Variant report

Variant	esv3339300
Chromosome Location	chr11:67887601-67890149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:682)
CpG islands
(count:855)
Chromatin interactive
region (count:43)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:682 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:67889032-67889923	HepG2	liver:	n/a	n/a
2	ATF1	chr11:67888793-67889075	K562	blood:	n/a	n/a
3	ATF2	chr11:67888951-67889278	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr11:67889346-67889451	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr11:67887800-67888036	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:67887907-67888161	GM12878	blood:	n/a	chr11:67888082-67888095 chr11:67888080-67888093
7	BCL11A	chr11:67887796-67888143	GM12878	blood:	n/a	chr11:67888082-67888095 chr11:67888080-67888093
8	BCL3	chr11:67888887-67889467	A549	lung:	n/a	chr11:67888988-67888997 chr11:67889008-67889021 chr11:67888948-67888957
9	BCL3	chr11:67888656-67889209	GM12878	blood:	n/a	chr11:67888988-67888997 chr11:67888758-67888767 chr11:67888738-67888751 chr11:67888857-67888866 chr11:67889008-67889021 chr11:67888948-67888957
10	BCLAF1	chr11:67887609-67888152	GM12878	blood:	n/a	chr11:67888082-67888095 chr11:67888080-67888093
11	BHLHE40	chr11:67888613-67889855	GM12878	blood:	n/a	chr11:67888668-67888684 chr11:67888665-67888681
12	BHLHE40	chr11:67887840-67888037	K562	blood:	n/a	n/a
13	BHLHE40	chr11:67888282-67888360	K562	blood:	n/a	n/a
14	BHLHE40	chr11:67888653-67889927	HepG2	liver:	n/a	chr11:67888668-67888684 chr11:67888665-67888681
15	BHLHE40	chr11:67887836-67888175	GM12878	blood:	n/a	n/a
16	BHLHE40	chr11:67888273-67888408	HepG2	liver:	n/a	n/a
17	BHLHE40	chr11:67888687-67889827	K562	blood:	n/a	n/a
18	BHLHE40	chr11:67888808-67888904	A549	lung:	n/a	n/a
19	BRCA1	chr11:67888826-67889918	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr11:67889601-67889832	HepG2	liver:	n/a	n/a
21	BRCA1	chr11:67889113-67889345	HepG2	liver:	n/a	n/a
22	CBX3	chr11:67888686-67889836	K562	blood:	n/a	n/a
23	CCNT2	chr11:67888291-67889658	K562	blood:	n/a	chr11:67889041-67889050
24	CEBPB	chr11:67889143-67889554	HepG2	liver:	n/a	n/a
25	CEBPB	chr11:67888784-67890012	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr11:67889105-67889532	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr11:67889076-67889638	A549	lung:	n/a	n/a
28	CEBPB	chr11:67889266-67889395	HepG2	liver:	n/a	n/a
29	CEBPB	chr11:67889004-67889502	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr11:67889082-67889540	MCF-7	breast:	n/a	n/a
31	CEBPB	chr11:67889162-67889946	HepG2	liver:	n/a	n/a
32	CEBPB	chr11:67889206-67889497	K562	blood:	n/a	n/a
33	CEBPB	chr11:67888782-67889897	HepG2	liver:	n/a	n/a
34	CEBPD	chr11:67888678-67889876	HepG2	liver:	n/a	n/a
35	CEBPD	chr11:67888915-67889166	HepG2	liver:	n/a	n/a
36	CHD1	chr11:67889482-67889528	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr11:67887675-67888152	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr11:67887748-67888759	GM12878	blood:	n/a	n/a
39	CHD1	chr11:67889089-67889353	GM12878	blood:	n/a	n/a
40	CHD2	chr11:67887837-67888126	GM12878	blood:	n/a	n/a
41	CHD2	chr11:67888805-67889088	K562	blood:	n/a	chr11:67889042-67889052
42	CHD2	chr11:67888801-67889294	H1-hESC	embryonic stem cell:	n/a	chr11:67889042-67889052
43	CHD2	chr11:67889574-67889848	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr11:67888737-67889950	Hela-S3	cervix:	n/a	chr11:67889042-67889052
45	CHD2	chr11:67888851-67889936	HepG2	liver:	n/a	chr11:67889042-67889052
46	CHD2	chr11:67888067-67888351	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr11:67888744-67889848	GM12878	blood:	n/a	chr11:67889042-67889052
48	CHD2	chr11:67889520-67889715	K562	blood:	n/a	n/a
49	CREB1	chr11:67888617-67889298	K562	blood:	n/a	n/a
50	CREB1	chr11:67888631-67889445	H1-hESC	embryonic stem cell:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67888955-67889005	NT2-D1	testis:	n/a
2	chr11:67888955-67889005	NT2-D1	testis:	n/a
3	chr11:67888858-67888908	IMR90	lung:	fetal
4	chr11:67889051-67889101	K562	blood:	n/a
5	chr11:67889062-67889112	HL-60	blood:	n/a
6	chr11:67888961-67889011	NH-A	brain:	n/a
7	chr11:67889051-67889101	HIPEpiC	eye:	n/a
8	chr11:67888858-67888908	Jurkat	blood:	n/a
9	chr11:67889062-67889112	NHBE	bronchial:	n/a
10	chr11:67888952-67889002	AG09319	gingival:	n/a
11	chr11:67888858-67888908	AG04450	lung:	fetal
12	chr11:67888858-67888908	AG09319	gingival:	n/a
13	chr11:67887978-67888028	HL-60	blood:	n/a
14	chr11:67888847-67888897	U87	brain:	n/a
15	chr11:67888858-67888908	HCPEpiC	choroid plexus:	n/a
16	chr11:67887978-67888028	NH-A	brain:	n/a
17	chr11:67889607-67889657	HCPEpiC	choroid plexus:	n/a
18	chr11:67888858-67888908	BE2_C	brain:	n/a
19	chr11:67888269-67888319	HepG2	liver:	n/a
20	chr11:67889062-67889112	SK-N-SH_RA	brain:	n/a
21	chr11:67889051-67889101	HRPEpiC	eye:	n/a
22	chr11:67889607-67889657	ECC-1	luminal epithelium:	n/a
23	chr11:67889051-67889101	H1-hESC	embryonic stem cell:	embryo
24	chr11:67888858-67888908	CMK	blood:	n/a
25	chr11:67888949-67888999	HUVEC	blood vessel:	n/a
26	chr11:67889237-67889287	CMK	blood:	n/a
27	chr11:67888847-67888897	ProgFib	skin:	n/a
28	chr11:67888955-67889005	GM12891	blood:	n/a
29	chr11:67888955-67889005	ECC-1	luminal epithelium:	n/a
30	chr11:67887978-67888028	HRPEpiC	eye:	n/a
31	chr11:67888961-67889011	HNPCEpiC	eye:	n/a
32	chr11:67888955-67889005	LNCaP	prostate:	n/a
33	chr11:67888955-67889005	BE2_C	brain:	n/a
34	chr11:67889607-67889657	Caco-2	colon:	n/a
35	chr11:67887978-67888028	MCF-7	breast:	n/a
36	chr11:67888847-67888897	K562	blood:	n/a
37	chr11:67888952-67889002	SK-N-SH_RA	brain:	n/a
38	chr11:67888955-67889005	AG09319	gingival:	n/a
39	chr11:67888955-67889005	RPTEC	kidney:	n/a
40	chr11:67888269-67888319	Jurkat	blood:	n/a
41	chr11:67887978-67888028	PFSK-1	brain:	n/a
42	chr11:67889607-67889657	HRCEpiC	kidney:	n/a
43	chr11:67888269-67888319	HL-60	blood:	n/a
44	chr11:67889607-67889657	IMR90	lung:	fetal
45	chr11:67888949-67888999	ECC-1	luminal epithelium:	n/a
46	chr11:67887978-67888028	HMEC	breast:	n/a
47	chr11:67889051-67889101	PrEC	prostate:	n/a
48	chr11:67888949-67888999	HCPEpiC	choroid plexus:	n/a
49	chr11:67888285-67888335	HEK293	kidney:	embryo
50	chr11:67888961-67889011	K562	blood:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8710001..8710863-chr11:67889168..67889751,2	Hela-S3	cervix:
2	chr11:67888837..67889515-chr12:112450238..112451071,2	Hela-S3	cervix:
3	chr10:99496905..99497501-chr11:67888548..67889429,2	Hela-S3	cervix:
4	chr11:67771335..67773099-chr11:67888319..67890316,2	MCF-7	breast:
5	chr11:67887768..67889272-chr6:1609533..1611427,2	MCF-7	breast:
6	chr11:67883153..67885077-chr11:67890088..67891678,2	MCF-7	breast:
7	chr10:74033294..74033891-chr11:67888402..67888975,2	NB4	blood:
8	chr11:67888951..67889473-chr6:43969361..43969867,2	Hela-S3	cervix:
9	chr11:67805173..67807792-chr11:67887405..67889765,3	K562	blood:
10	chr11:67888893..67889536-chr5:149534758..149535758,2	Hela-S3	cervix:
11	chr11:67888702..67889469-chr12:46661053..46661870,2	Hela-S3	cervix:
12	chr11:67888366..67890483-chr11:68038112..68039690,2	K562	blood:
13	chr11:67796973..67799745-chr11:67886868..67889859,3	MCF-7	breast:
14	chr11:67887483..67890032-chr11:67980873..67983925,4	MCF-7	breast:
15	chr11:67770998..67775364-chr11:67887455..67891345,5	MCF-7	breast:
16	chr1:235291681..235292404-chr11:67888686..67889195,2	Hela-S3	cervix:
17	chr11:67889083..67889616-chr14:68161938..68162480,2	Hela-S3	cervix:
18	chr1:234744728..234746900-chr11:67886819..67889133,2	MCF-7	breast:
19	chr11:67797558..67799338-chr11:67885991..67888361,2	K562	blood:
20	chr11:67888400..67889306-chr15:72523095..72524055,2	Hela-S3	cervix:
21	chr11:67886377..67890473-chr11:67979925..67982167,7	K562	blood:
22	chr11:67887936..67890486-chr11:67979082..67980750,2	MCF-7	breast:
23	chr11:67805532..67808187-chr11:67887312..67890096,4	MCF-7	breast:
24	chr11:67888461..67889265-chr19:9694680..9695551,2	NB4	blood:
25	chr11:67764595..67767102-chr11:67888272..67890683,2	K562	blood:
26	chr11:67796548..67799452-chr11:67888689..67890440,2	K562	blood:
27	chr11:67889304..67890106-chr3:145878724..145879660,2	Hela-S3	cervix:
28	chr11:67848312..67851190-chr11:67885750..67887759,2	MCF-7	breast:
29	chr11:67809131..67812171-chr11:67888117..67890461,4	MCF-7	breast:
30	chr11:67856873..67858928-chr11:67888332..67890315,2	K562	blood:
31	chr11:67887644..67890253-chr11:67979136..67982167,3	K562	blood:
32	chr1:151964397..151965397-chr11:67888029..67888810,2	Hela-S3	cervix:
33	chr11:67888805..67889413-chr17:34957650..34958285,2	Hela-S3	cervix:
34	chr11:67888938..67889526-chr14:91884442..91885010,2	Hela-S3	cervix:
35	chr11:67772162..67773973-chr11:67887199..67889790,2	K562	blood:
36	chr11:67887256..67890230-chr11:67980200..67982109,4	MCF-7	breast:
37	chr11:67888391..67888933-chr5:37248964..37249645,2	Hela-S3	cervix:
38	chr11:67776209..67777895-chr11:67887404..67889163,2	K562	blood:
39	chr11:67809464..67811136-chr11:67889799..67892017,2	K562	blood:
40	chr11:67888934..67889819-chr19:46010404..46011013,2	Hela-S3	cervix:
41	chr11:67876263..67879090-chr11:67886261..67888114,2	K562	blood:
42	chr11:67805173..67809189-chr11:67886289..67889765,4	K562	blood:
43	chr11:67796203..67799766-chr11:67888971..67890534,5	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCIRG1-2	chr11:67889103-67889670	NONHSAT022507
2	lnc-TCIRG1-2	chr11:67889389-67889670	XLOC_009183
3	lnc-TCIRG1-2	chr11:67889520-67889670	ENSG00000255236.2
4	lnc-TCIRG1-2	chr11:67889047-67889670	XLOC_009183
5	lnc-TCIRG1-2	chr11:67889520-67889670	ENSG00000255236.1

No data

Variant related genes	Relation type
ENSG00000255236	TF binding region
CHKA	TF binding region
ENSG00000255236	CpG island
CHKA	CpG island
ENSG00000168264	chromatin interactions
ENSG00000125753	chromatin interactions
ENSG00000110717	chromatin interactions
ENSG00000072042	chromatin interactions
ENSG00000173726	chromatin interactions
ENSG00000110066	chromatin interactions
ENSG00000110057	chromatin interactions
ENSG00000171067	chromatin interactions
ENSG00000166441	chromatin interactions
ENSG00000197603	chromatin interactions
ENSG00000054598	chromatin interactions
ENSG00000111371	chromatin interactions
ENSG00000152952	chromatin interactions
ENSG00000197961	chromatin interactions
ENSG00000129282	chromatin interactions
ENSG00000258798	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000197747	chromatin interactions
ENSG00000110719	chromatin interactions
ENSG00000113721	chromatin interactions
ENSG00000198270	chromatin interactions
ENSG00000255306	chromatin interactions
ENSG00000110721	chromatin interactions
ENSG00000155256	chromatin interactions
ENSG00000006534	chromatin interactions
ENSG00000067225	chromatin interactions
EHF	miRNA target sites
PIP4K2A	miRNA target sites

Extended variants
information (count: 75 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569541351	chr11:67887621-67887622	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs537131008	chr11:67887639-67887640	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs148814034	chr11:67887697-67887698	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs578079577	chr11:67887722-67887723	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs189419596	chr11:67887738-67887739	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs79792945	chr11:67887746-67887747	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs193222227	chr11:67887762-67887763	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs553099252	chr11:67887766-67887767	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs578169231	chr11:67887786-67887787	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs185221601	chr11:67887793-67887794	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs190216551	chr11:67887801-67887802	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs141745202	chr11:67887840-67887841	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs181426211	chr11:67887926-67887927	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs138514575	chr11:67888009-67888010	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs542554487	chr11:67888101-67888102	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs528983573	chr11:67888123-67888124	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs540982190	chr11:67888198-67888199	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs559102150	chr11:67888215-67888216	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs533034767	chr11:67888235-67888236	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs371147054	chr11:67888252-67888253	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs560866089	chr11:67888271-67888272	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs551295541	chr11:67888272-67888273	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs375078573	chr11:67888273-67888274	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs569504520	chr11:67888299-67888300	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs549563780	chr11:67888304-67888305	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs530664707	chr11:67888358-67888359	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs548906257	chr11:67888412-67888413	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
28	rs567708807	chr11:67888426-67888427	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs534821347	chr11:67888449-67888450	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs546942861	chr11:67888687-67888688	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
31	rs185636134	chr11:67888786-67888787	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
32	rs188388975	chr11:67888793-67888794	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	mRNA abundance
33	rs539325376	chr11:67888797-67888798	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
34	rs180946292	chr11:67888806-67888807	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
35	rs185174605	chr11:67888809-67888810	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
36	rs536796627	chr11:67888868-67888869	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
37	rs554874086	chr11:67888880-67888881	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
38	rs573647528	chr11:67888925-67888926	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
39	rs77583548	chr11:67888935-67888936	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
40	rs559284661	chr11:67889027-67889028	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
41	rs538855035	chr11:67889083-67889084	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
42	rs544898368	chr11:67889084-67889085	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
43	rs563195218	chr11:67889114-67889115	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
44	rs557482980	chr11:67889117-67889118	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
45	rs530721254	chr11:67889136-67889137	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
46	rs79345575	chr11:67889145-67889146	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
47	rs560945954	chr11:67889243-67889244	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
48	rs191070677	chr11:67889283-67889284	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
49	rs546814461	chr11:67889300-67889301	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
50	rs144218912	chr11:67889308-67889309	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
small cell lung cancer	20016488	CNVD
Developmental delay	21373257	CNVD
speech delay	21373257	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67875400-67888200	Weak transcription	Spleen	Spleen
2	chr11:67878800-67887800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:67883000-67887800	Weak transcription	Aorta	Aorta
4	chr11:67884200-67887800	Weak transcription	Esophagus	oesophagus
5	chr11:67884400-67888000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr11:67885400-67887800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:67885600-67887800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:67885800-67889200	Active TSS	Fetal Intestine Large	intestine
9	chr11:67886000-67887800	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:67886000-67888000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr11:67886000-67888200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:67886000-67889600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr11:67886200-67887800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr11:67886200-67888000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:67886200-67888000	Flanking Active TSS	Liver	Liver
16	chr11:67886200-67888000	Flanking Active TSS	Hela-S3	cervix
17	chr11:67886200-67888200	Flanking Active TSS	Dnd41	blood
18	chr11:67886400-67888200	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr11:67886600-67888000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr11:67886600-67889000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:67886600-67889200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr11:67886600-67889200	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr11:67886600-67889200	Active TSS	GM12878-XiMat	blood
24	chr11:67886600-67889400	Active TSS	Brain Germinal Matrix	brain
25	chr11:67886600-67889600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr11:67886600-67890000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr11:67886800-67888000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:67886800-67888200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr11:67886800-67888200	Active TSS	Fetal Lung	lung
30	chr11:67886800-67889200	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr11:67886800-67889200	Active TSS	Rectal Smooth Muscle	rectum
32	chr11:67886800-67889400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:67886800-67889400	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr11:67886800-67889400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:67886800-67889400	Active TSS	Brain Anterior Caudate	brain
36	chr11:67886800-67889400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr11:67886800-67889400	Active TSS	Fetal Brain Female	brain
38	chr11:67886800-67889400	Active TSS	Pancreas	Pancrea
39	chr11:67886800-67889600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:67886800-67889600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:67886800-67889600	Active TSS	Brain Substantia Nigra	brain
42	chr11:67886800-67889800	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr11:67887000-67887800	Weak transcription	Fetal Heart	heart
44	chr11:67887000-67887800	Weak transcription	Stomach Mucosa	stomach
45	chr11:67887000-67889200	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr11:67887000-67889200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:67887000-67889200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:67887000-67889200	Active TSS	Fetal Intestine Small	intestine
49	chr11:67887000-67889400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:67887000-67889400	Active TSS	Brain Cingulate Gyrus	brain

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