Variant report

Variant	nsv897850
Chromosome Location	chr11:67793014-67805381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:974)
CpG islands
(count:1281)
Chromatin interactive
region (count:30)
LncRNA
region (count:6)
Mature miRNA
region (count: 4)
miRNA target
sites (count:0)

(count:974 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:67797896-67798188	K562	blood:	n/a	n/a
2	ARID3A	chr11:67797661-67798325	HepG2	liver:	n/a	n/a
3	ATF3	chr11:67795442-67795915	A549	lung:	n/a	n/a
4	ATF3	chr11:67795515-67795849	K562	blood:	n/a	n/a
5	BACH1	chr11:67798160-67798391	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr11:67797764-67798308	A549	lung:	n/a	chr11:67798185-67798194 chr11:67798297-67798306
7	BCL3	chr11:67795077-67795936	A549	lung:	n/a	n/a
8	BCL3	chr11:67803436-67803909	A549	lung:	n/a	n/a
9	BCL3	chr11:67804131-67805529	A549	lung:	n/a	chr11:67804665-67804674 chr11:67804697-67804706 chr11:67804227-67804240
10	BCL3	chr11:67796118-67797303	A549	lung:	n/a	chr11:67796836-67796845
11	BCL3	chr11:67796163-67797393	A549	lung:	n/a	chr11:67796836-67796845
12	BCL3	chr11:67795306-67795941	A549	lung:	n/a	n/a
13	BCL3	chr11:67804432-67806447	A549	lung:	n/a	chr11:67805867-67805880 chr11:67805657-67805670 chr11:67804665-67804674 chr11:67806423-67806436 chr11:67804697-67804706
14	BCL3	chr11:67797433-67798403	A549	lung:	n/a	chr11:67798185-67798194 chr11:67798297-67798306
15	BHLHE40	chr11:67804543-67804698	K562	blood:	n/a	n/a
16	BHLHE40	chr11:67798127-67798679	K562	blood:	n/a	n/a
17	BHLHE40	chr11:67797727-67797857	GM12878	blood:	n/a	n/a
18	BHLHE40	chr11:67798064-67798392	GM12878	blood:	n/a	n/a
19	BHLHE40	chr11:67798021-67798460	HepG2	liver:	n/a	n/a
20	BRCA1	chr11:67797753-67798480	Hela-S3	cervix:	n/a	n/a
21	CBX3	chr11:67797588-67798614	K562	blood:	n/a	n/a
22	CCNT2	chr11:67798039-67798434	K562	blood:	n/a	n/a
23	CCNT2	chr11:67803669-67803943	K562	blood:	n/a	n/a
24	CCNT2	chr11:67795582-67795782	K562	blood:	n/a	n/a
25	CEBPB	chr11:67795926-67796249	A549	lung:	n/a	chr11:67796094-67796105
26	CEBPB	chr11:67795939-67796146	HepG2	liver:	n/a	chr11:67796094-67796105
27	CEBPB	chr11:67803875-67804078	K562	blood:	n/a	n/a
28	CEBPB	chr11:67795946-67796283	K562	blood:	n/a	chr11:67796094-67796105
29	CEBPB	chr11:67803934-67804096	HepG2	liver:	n/a	n/a
30	CEBPB	chr11:67797649-67798122	Hela-S3	cervix:	n/a	chr11:67798010-67798018
31	CEBPB	chr11:67796650-67796865	HepG2	liver:	n/a	n/a
32	CEBPB	chr11:67795549-67796516	IMR90	lung:	n/a	chr11:67796094-67796105
33	CEBPB	chr11:67797518-67798043	K562	blood:	n/a	chr11:67798010-67798018
34	CEBPB	chr11:67803851-67804013	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr11:67795950-67796203	H1-hESC	embryonic stem cell:	n/a	chr11:67796094-67796105
36	CEBPB	chr11:67795934-67796264	Hela-S3	cervix:	n/a	chr11:67796094-67796105
37	CEBPB	chr11:67797700-67797734	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr11:67797642-67798164	K562	blood:	n/a	chr11:67798010-67798018
39	CEBPD	chr11:67798024-67798558	HepG2	liver:	n/a	n/a
40	CEBPD	chr11:67797589-67797976	HepG2	liver:	n/a	n/a
41	CEBPZ	chr11:67797855-67798233	HepG2	liver:	n/a	n/a
42	CHD1	chr11:67797661-67798515	GM12878	blood:	n/a	n/a
43	CHD1	chr11:67794882-67795982	IMR90	lung:	n/a	n/a
44	CHD2	chr11:67804842-67805440	K562	blood:	n/a	n/a
45	CHD2	chr11:67797788-67798443	GM12878	blood:	n/a	n/a
46	CHD2	chr11:67797624-67798733	K562	blood:	n/a	n/a
47	CHD2	chr11:67797904-67798384	HepG2	liver:	n/a	n/a
48	CHD2	chr11:67795522-67795791	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr11:67797613-67798522	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr11:67797754-67798316	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1281 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67797922-67797972	BJ	skin:	n/a
2	chr11:67805250-67805300	NHBE	bronchial:	n/a
3	chr11:67798128-67798178	AG09319	gingival:	n/a
4	chr11:67798128-67798178	HCM	heart:	n/a
5	chr11:67798292-67798342	PANC-1	pancreas:	n/a
6	chr11:67798041-67798091	AG10803	skin:	n/a
7	chr11:67797936-67797986	SAEC	small airway:	n/a
8	chr11:67803771-67803821	K562	blood:	n/a
9	chr11:67797684-67797734	HNPCEpiC	eye:	n/a
10	chr11:67797975-67798025	HL-60	blood:	n/a
11	chr11:67797886-67797936	HRCEpiC	kidney:	n/a
12	chr11:67798532-67798582	T-47D	breast:	n/a
13	chr11:67797908-67797958	MCF10A-Er-Src	breast:	n/a
14	chr11:67804112-67804162	GM19239	blood:	n/a
15	chr11:67801224-67801274	K562	blood:	n/a
16	chr11:67798532-67798582	AG09319	gingival:	n/a
17	chr11:67797886-67797936	HAEpiC	amniotic membrane:	n/a
18	chr11:67798041-67798091	BE2_C	brain:	n/a
19	chr11:67798532-67798582	HMEC	breast:	n/a
20	chr11:67797922-67797972	HPAEpiC	pulmonary alveolar:	n/a
21	chr11:67803951-67804001	RPTEC	kidney:	n/a
22	chr11:67797913-67797963	AG09309	skin:	n/a
23	chr11:67797936-67797986	GM06990	blood:	n/a
24	chr11:67797883-67797933	HEK293	kidney:	embryo
25	chr11:67801224-67801274	AG04449	skin:	fetal
26	chr11:67795659-67795709	PrEC	prostate:	n/a
27	chr11:67797975-67798025	NHDF-neo	bronchial:	n/a
28	chr11:67798212-67798262	CMK	blood:	n/a
29	chr11:67798041-67798091	NHBE	bronchial:	n/a
30	chr11:67795659-67795709	HCPEpiC	choroid plexus:	n/a
31	chr11:67805250-67805300	ProgFib	skin:	n/a
32	chr11:67798041-67798091	NH-A	brain:	n/a
33	chr11:67798532-67798582	HRE	kidney:	n/a
34	chr11:67797922-67797972	HIPEpiC	eye:	n/a
35	chr11:67797922-67797972	HAEpiC	amniotic membrane:	n/a
36	chr11:67797936-67797986	HEK293	kidney:	embryo
37	chr11:67797913-67797963	AG04450	lung:	fetal
38	chr11:67797936-67797986	HCT-116	colon:	n/a
39	chr11:67805250-67805300	HepG2	liver:	n/a
40	chr11:67797684-67797734	SK-N-SH	brain:	n/a
41	chr11:67797975-67798025	BJ	skin:	n/a
42	chr11:67797936-67797986	GM12878	blood:	n/a
43	chr11:67797936-67797986	MCF10A-Er-Src	breast:	n/a
44	chr11:67801224-67801274	HRPEpiC	eye:	n/a
45	chr11:67798128-67798178	HNPCEpiC	eye:	n/a
46	chr11:67797931-67797981	HL-60	blood:	n/a
47	chr11:67797922-67797972	SK-N-SH_RA	brain:	n/a
48	chr11:67804055-67804105	GM19239	blood:	n/a
49	chr11:67803951-67804001	HUVEC	blood vessel:	n/a
50	chr11:67798212-67798262	U87	brain:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67797558..67799338-chr11:67885991..67888361,2	K562	blood:
2	chr11:67797762..67803553-chr11:67979125..67981829,6	MCF-7	breast:
3	chr11:67782340..67787471-chr11:67792467..67797834,9	K562	blood:
4	chr11:67803608..67807840-chr11:67979633..67982182,3	K562	blood:
5	chr11:67792188..67795052-chr3:168699147..168701968,2	MCF-7	breast:
6	chr11:67770583..67773138-chr11:67804309..67805810,2	K562	blood:
7	chr11:67787554..67789987-chr11:67792495..67796734,5	K562	blood:
8	chr11:67796548..67799452-chr11:67888689..67890440,2	K562	blood:
9	chr11:67776070..67778120-chr11:67803675..67805660,2	K562	blood:
10	chr11:67770133..67772267-chr11:67796388..67798189,2	K562	blood:
11	chr1:115323245..115324929-chr11:67804198..67805795,2	MCF-7	breast:
12	chr11:67771853..67773886-chr11:67794118..67796060,2	K562	blood:
13	chr11:67770218..67773172-chr11:67805064..67808057,3	K562	blood:
14	chr11:67805173..67807792-chr11:67887405..67889765,3	K562	blood:
15	chr11:67794907..67797094-chr11:67930115..67932239,2	MCF-7	breast:
16	chr11:67798014..67799610-chr11:67799781..67801892,2	K562	blood:
17	chr11:67803003..67807692-chr11:67979461..67982180,5	MCF-7	breast:
18	chr11:67790100..67792204-chr11:67793798..67795840,2	K562	blood:
19	chr11:67796203..67799766-chr11:67888971..67890534,5	MCF-7	breast:
20	chr11:67776633..67779501-chr11:67798153..67800329,2	K562	blood:
21	chr11:67792299..67793938-chr11:67945521..67947128,2	MCF-7	breast:
22	chr11:67798014..67799610-chr11:67799781..67801892,2	K562	blood:
23	chr11:67805173..67809189-chr11:67886289..67889765,4	K562	blood:
24	chr11:67796973..67799745-chr11:67886868..67889859,3	MCF-7	breast:
25	chr1:153939786..153940359-chr11:67797734..67798606,2	Hela-S3	cervix:
26	chr11:67803641..67806455-chr11:67892940..67895598,3	MCF-7	breast:
27	chr11:67791239..67794033-chr11:67979567..67982575,4	MCF-7	breast:
28	chr11:67795954..67799796-chr11:67979267..67982361,5	MCF-7	breast:
29	chr11:67797865..67798398-chr19:41724615..41725298,2	Hela-S3	cervix:
30	chr11:67804584..67806148-chr11:67919212..67921767,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UNC93B1-2	chr11:67795082-67796887	NONHSAT022490
2	lnc-TCIRG1-4	chr11:67799619-67800152	NONHSAT022491
3	lnc-UNC93B1-2	chr11:67797760-67797781	NONHSAT022490
4	lnc-UNC93B1-2	chr11:67797726-67797928	ENSG00000255306.1
5	lnc-UNC93B1-2	chr11:67796751-67796887	ENSG00000255306.1
6	lnc-TCIRG1-4	chr11:67798120-67798200	NONHSAT022491

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4691-5p	chr11:67801377-67801399	MIMAT0019781
hsa-miR-7113-3p	chr11:67800367-67800389	MIMAT0028124
hsa-miR-7113-5p	chr11:67800332-67800352	MIMAT0028123
hsa-miR-4691-3p	chr11:67801416-67801438	MIMAT0019782

No data

Variant related genes	Relation type
MIR4691	TF binding region
NDUFS8	TF binding region
ENSG00000255306	TF binding region
TCIRG1	TF binding region
MIR4691	CpG island
NDUFS8	CpG island
ENSG00000255306	CpG island
TCIRG1	CpG island
ENSG00000143578	chromatin interactions
ENSG00000143570	chromatin interactions
ENSG00000052723	chromatin interactions
ENSG00000266737	chromatin interactions
ENSG00000006534	chromatin interactions
ENSG00000167601	chromatin interactions
ENSG00000110057	chromatin interactions
ENSG00000110066	chromatin interactions
ENSG00000255236	chromatin interactions
ENSG00000110717	chromatin interactions
ENSG00000110721	chromatin interactions

Extended variants
information (count: 641 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:641 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs105147	chr11:67793014-67793015	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529565455	chr11:67793023-67793024	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547782624	chr11:67793114-67793115	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs559885920	chr11:67793116-67793117	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs3794179	chr11:67793164-67793165	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs552277146	chr11:67793167-67793168	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs570595262	chr11:67793171-67793172	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs545545659	chr11:67793188-67793189	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs537955509	chr11:67793224-67793225	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs142004633	chr11:67793225-67793226	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs567965747	chr11:67793237-67793238	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs535701240	chr11:67793252-67793253	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs553822503	chr11:67793306-67793307	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs193260014	chr11:67793324-67793325	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs184724852	chr11:67793392-67793393	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs73505244	chr11:67793404-67793405	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189247497	chr11:67793412-67793413	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs376862122	chr11:67793441-67793442	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs571082269	chr11:67793447-67793448	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs2286164	chr11:67793448-67793449	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs566600792	chr11:67793455-67793456	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs573988503	chr11:67793489-67793490	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs200311887	chr11:67793501-67793502	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs2286163	chr11:67793509-67793510	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs199696843	chr11:67793527-67793528	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs200756299	chr11:67793530-67793531	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs146327359	chr11:67793537-67793538	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs374098126	chr11:67793573-67793574	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs567254294	chr11:67793593-67793594	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs536243069	chr11:67793594-67793595	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs376656014	chr11:67793613-67793614	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs367688785	chr11:67793622-67793623	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs549618932	chr11:67793652-67793653	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs568039726	chr11:67793659-67793660	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs34526809	chr11:67793669-67793670	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs535152235	chr11:67793713-67793714	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs192112673	chr11:67793726-67793727	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs555499548	chr11:67793782-67793783	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs184300776	chr11:67793843-67793844	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs139932687	chr11:67793850-67793851	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs188599027	chr11:67793872-67793873	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs575837757	chr11:67793880-67793881	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs143369530	chr11:67793941-67793942	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs555625360	chr11:67793944-67793945	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs573953875	chr11:67793989-67793990	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs71459684	chr11:67793998-67793999	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs886702	chr11:67794005-67794006	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs578242624	chr11:67794013-67794014	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs372738079	chr11:67794023-67794024	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs181187589	chr11:67794038-67794039	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21373257	CNVD
speech delay	21373257	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1222 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67771600-67797600	Weak transcription	Small Intestine	intestine
2	chr11:67782400-67794800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:67782400-67794800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:67782400-67796800	Weak transcription	Colon Smooth Muscle	Colon
5	chr11:67782600-67794000	Weak transcription	NH-A	brain
6	chr11:67782600-67797000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:67782800-67795800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:67782800-67797200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:67785200-67797200	Weak transcription	Right Atrium	heart
10	chr11:67785400-67795800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:67785600-67796000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:67785600-67797600	Weak transcription	Brain Substantia Nigra	brain
13	chr11:67785800-67794800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:67788200-67797000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:67788400-67795200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:67788400-67797000	Weak transcription	Right Ventricle	heart
17	chr11:67788600-67797000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:67788800-67794000	Weak transcription	HSMM	muscle
19	chr11:67788800-67794800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:67788800-67795600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:67788800-67796600	Weak transcription	Fetal Heart	heart
22	chr11:67788800-67797000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:67788800-67797600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr11:67789000-67793800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:67789000-67794800	Weak transcription	HMEC	breast
26	chr11:67789000-67795200	Weak transcription	Esophagus	oesophagus
27	chr11:67789000-67795800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr11:67789000-67796400	Strong transcription	Spleen	Spleen
29	chr11:67789000-67796600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:67789000-67796600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:67789000-67796600	Weak transcription	Liver	Liver
32	chr11:67789000-67796800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:67789000-67797000	Weak transcription	Stomach Mucosa	stomach
34	chr11:67789200-67793200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:67789200-67793800	Strong transcription	Hela-S3	cervix
36	chr11:67789200-67797000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:67789800-67796800	Weak transcription	Fetal Intestine Large	intestine
38	chr11:67790000-67793400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:67790200-67795200	Strong transcription	Placenta	Placenta
40	chr11:67790800-67794600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:67791200-67794600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr11:67791400-67793200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:67791400-67793200	Strong transcription	Adipose Nuclei	Adipose
44	chr11:67791400-67793400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:67791400-67793800	Strong transcription	Gastric	stomach
46	chr11:67791400-67794800	Strong transcription	Osteobl	bone
47	chr11:67791400-67795600	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:67791600-67793200	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr11:67791600-67793400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:67791600-67793800	Strong transcription	Stomach Smooth Muscle	stomach

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