Variant report

Variant	esv3388869
Chromosome Location	chr2:10587326-10589874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:950)
CpG islands
(count:673)
Chromatin interactive
region (count:29)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:950 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:10589822-10590468	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:10588545-10588559	K562	blood:	n/a	n/a
3	ARID3A	chr2:10588802-10589018	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:10588104-10588185	K562	blood:	n/a	n/a
5	ATF2	chr2:10588724-10589212	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr2:10588737-10589160	GM12878	blood:	n/a	n/a
7	ATF3	chr2:10587944-10588307	HepG2	liver:	n/a	chr2:10587963-10587972
8	ATF3	chr2:10588723-10589046	K562	blood:	n/a	n/a
9	BACH1	chr2:10588358-10588681	K562	blood:	n/a	n/a
10	BACH1	chr2:10588407-10589117	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr2:10587483-10587820	K562	blood:	n/a	n/a
12	BCL3	chr2:10587992-10588612	GM12878	blood:	n/a	chr2:10588309-10588322 chr2:10588222-10588231 chr2:10588262-10588275
13	BCLAF1	chr2:10588742-10589164	GM12878	blood:	n/a	n/a
14	BCLAF1	chr2:10587426-10588480	GM12878	blood:	n/a	chr2:10588309-10588322 chr2:10588222-10588231 chr2:10588262-10588275
15	BHLHE40	chr2:10587527-10589296	GM12878	blood:	n/a	n/a
16	BHLHE40	chr2:10587766-10589275	K562	blood:	n/a	n/a
17	BHLHE40	chr2:10587939-10589085	HepG2	liver:	n/a	n/a
18	BHLHE40	chr2:10587981-10588510	A549	lung:	n/a	n/a
19	BRCA1	chr2:10588831-10589019	GM12878	blood:	n/a	n/a
20	BRCA1	chr2:10588827-10589018	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr2:10588054-10588211	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr2:10588839-10589039	HepG2	liver:	n/a	n/a
23	BRCA1	chr2:10589823-10590444	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr2:10587350-10587862	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr2:10588200-10588397	GM12878	blood:	n/a	n/a
26	BRCA1	chr2:10587521-10587856	GM12878	blood:	n/a	n/a
27	CBX3	chr2:10588746-10589370	K562	blood:	n/a	n/a
28	CBX3	chr2:10588718-10589067	K562	blood:	n/a	n/a
29	CCNT2	chr2:10587645-10589227	K562	blood:	n/a	chr2:10588665-10588674
30	CEBPB	chr2:10588855-10588961	HepG2	liver:	n/a	n/a
31	CEBPB	chr2:10587911-10588179	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr2:10587837-10587998	HepG2	liver:	n/a	n/a
33	CEBPB	chr2:10588754-10589093	K562	blood:	n/a	n/a
34	CEBPB	chr2:10587812-10589049	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr2:10587787-10588116	HepG2	liver:	n/a	n/a
36	CEBPB	chr2:10589872-10590586	HCT-116	colon:	n/a	chr2:10590269-10590280 chr2:10590268-10590281
37	CEBPB	chr2:10587868-10588043	K562	blood:	n/a	n/a
38	CEBPD	chr2:10588158-10589145	HepG2	liver:	n/a	n/a
39	CEBPD	chr2:10588248-10588734	K562	blood:	n/a	n/a
40	CHD1	chr2:10586760-10588522	GM12878	blood:	n/a	n/a
41	CHD1	chr2:10586355-10588647	IMR90	lung:	n/a	n/a
42	CHD1	chr2:10588782-10589428	GM12878	blood:	n/a	n/a
43	CHD2	chr2:10587612-10588195	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr2:10589857-10590439	HepG2	liver:	n/a	n/a
45	CHD2	chr2:10587585-10589145	HepG2	liver:	n/a	n/a
46	CHD2	chr2:10587612-10589347	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr2:10588737-10589106	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr2:10587479-10589205	K562	blood:	n/a	n/a
49	CHD2	chr2:10589410-10589514	HepG2	liver:	n/a	n/a
50	CHD2	chr2:10589585-10590498	Hela-S3	cervix:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:10587627-10587677	NH-A	brain:	n/a
2	chr2:10588232-10588282	NH-A	brain:	n/a
3	chr2:10587627-10587677	NH-A	brain:	n/a
4	chr2:10588232-10588282	NH-A	brain:	n/a
5	chr2:10589054-10589104	SAEC	small airway:	n/a
6	chr2:10588068-10588118	HEEpiC	esophagus:	n/a
7	chr2:10588468-10588518	HCF	heart:	n/a
8	chr2:10588468-10588518	AG09309	skin:	n/a
9	chr2:10588434-10588484	IMR90	lung:	fetal
10	chr2:10588232-10588282	K562	blood:	n/a
11	chr2:10588471-10588521	HMEC	breast:	n/a
12	chr2:10587627-10587677	HRE	kidney:	n/a
13	chr2:10588838-10588888	Jurkat	blood:	n/a
14	chr2:10588646-10588696	HCT-116	colon:	n/a
15	chr2:10588468-10588518	BE2_C	brain:	n/a
16	chr2:10588434-10588484	NH-A	brain:	n/a
17	chr2:10588838-10588888	MCF10A-Er-Src	breast:	n/a
18	chr2:10588468-10588518	ProgFib	skin:	n/a
19	chr2:10588068-10588118	HL-60	blood:	n/a
20	chr2:10588434-10588484	GM12892	blood:	n/a
21	chr2:10588471-10588521	HCT-116	colon:	n/a
22	chr2:10588434-10588484	AG04450	lung:	fetal
23	chr2:10588838-10588888	BJ	skin:	n/a
24	chr2:10588232-10588282	Hela-S3	cervix:	n/a
25	chr2:10588493-10588543	HMEC	breast:	n/a
26	chr2:10588434-10588484	SAEC	small airway:	n/a
27	chr2:10588232-10588282	LNCaP	prostate:	n/a
28	chr2:10587627-10587677	HepG2	liver:	n/a
29	chr2:10588068-10588118	U87	brain:	n/a
30	chr2:10588646-10588696	NB4	blood:	n/a
31	chr2:10587627-10587677	HCT-116	colon:	n/a
32	chr2:10588068-10588118	BJ	skin:	n/a
33	chr2:10587627-10587677	BE2_C	brain:	n/a
34	chr2:10588232-10588282	U87	brain:	n/a
35	chr2:10589054-10589104	HIPEpiC	eye:	n/a
36	chr2:10588068-10588118	AG10803	skin:	n/a
37	chr2:10588471-10588521	GM12878	blood:	n/a
38	chr2:10588471-10588521	K562	blood:	n/a
39	chr2:10589242-10589292	HMEC	breast:	n/a
40	chr2:10588468-10588518	PFSK-1	brain:	n/a
41	chr2:10588646-10588696	AG04449	skin:	fetal
42	chr2:10588232-10588282	NHBE	bronchial:	n/a
43	chr2:10588232-10588282	HEEpiC	esophagus:	n/a
44	chr2:10589242-10589292	GM12892	blood:	n/a
45	chr2:10589054-10589104	ProgFib	skin:	n/a
46	chr2:10587627-10587677	IMR90	lung:	fetal
47	chr2:10588232-10588282	SKMC	muscle:	n/a
48	chr2:10587627-10587677	AG09319	gingival:	n/a
49	chr2:10588471-10588521	HIPEpiC	eye:	n/a
50	chr2:10588646-10588696	PFSK-1	brain:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:204463219..204463852-chr2:10587588..10588349,2	Hela-S3	cervix:
2	chr14:94547166..94547694-chr2:10588672..10589265,2	HCT-116	colon:
3	chr2:10587002..10587961-chr9:130548122..130548787,2	Hela-S3	cervix:
4	chr1:85725140..85725768-chr2:10588151..10588652,2	MCF-7	breast:
5	chr2:10584788..10589777-chr2:10826863..10830293,6	K562	blood:
6	chr2:10257984..10265070-chr2:10582045..10589780,17	K562	blood:
7	chr2:10259710..10265084-chr2:10586364..10590442,7	MCF-7	breast:
8	chr12:53400061..53400730-chr2:10588280..10589184,2	Hela-S3	cervix:
9	chr2:10587837..10588679-chr9:136214618..136215524,2	Hela-S3	cervix:
10	chr2:10588007..10588995-chr20:62587586..62588155,2	Hela-S3	cervix:
11	chr19:39897578..39898321-chr2:10587983..10588853,2	Hela-S3	cervix:
12	chr2:10191630..10196148-chr2:10586386..10589794,5	K562	blood:
13	chr18:32072933..32074749-chr2:10587681..10589883,2	MCF-7	breast:
14	chr2:9982517..9985169-chr2:10586715..10588876,2	K562	blood:
15	chr2:10589361..10589892-chr3:50336432..50336956,2	Hela-S3	cervix:
16	chr1:11866723..11867645-chr2:10588785..10589744,2	Hela-S3	cervix:
17	chr17:56708807..56709356-chr2:10588054..10588762,2	Hela-S3	cervix:
18	chr1:27481139..27481769-chr2:10588437..10589315,2	NB4	blood:
19	chr2:10259653..10265917-chr2:10585320..10590295,8	MCF-7	breast:
20	chr2:10183697..10185477-chr2:10588092..10590281,2	K562	blood:
21	chr2:10259839..10264771-chr2:10582056..10590038,19	K562	blood:
22	chr2:10441623..10444200-chr2:10586906..10588748,2	K562	blood:
23	chr2:10265245..10266788-chr2:10587089..10589177,2	K562	blood:
24	chr2:10441623..10444177-chr2:10587166..10588748,2	K562	blood:
25	chr2:10586529..10589550-chr2:10592115..10595368,3	MCF-7	breast:
26	chr2:10588336..10588842-chr5:34007597..34008142,2	Hela-S3	cervix:
27	chr2:10420712..10423243-chr2:10586890..10589076,2	K562	blood:
28	chr11:77184882..77185407-chr2:10587988..10588765,2	HCT-116	colon:
29	chr11:125439070..125439799-chr2:10588616..10589170,2	HCT-116	colon:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HPCAL1-1	chr2:10589333-10590809	NONHSAT069109
2	lnc-HPCAL1-1	chr2:10589126-10589307	XLOC_001342
3	lnc-HPCAL1-1	chr2:10589126-10589307	XLOC_001342
4	lnc-HPCAL1-1	chr2:10589240-10589307	XLOC_001342
5	lnc-HPCAL1-1	chr2:10589695-10589997	NONHSAT069111
6	lnc-HPCAL1-1	chr2:10589854-10589997	ENSG00000257135
7	lnc-HPCAL1-1	chr2:10589126-10589307	XLOC_001342
8	lnc-HPCAL1-1	chr2:10589581-10590407	XLOC_001342
9	lnc-HPCAL1-1	chr2:10589731-10590781	XLOC_001342
10	lnc-HPCAL1-1	chr2:10589870-10590407	XLOC_001342
11	lnc-HPCAL1-1	chr2:10588861-10590831	NONHSAT069104
12	lnc-HPCAL1-1	chr2:10589870-10589997	XLOC_001342
13	lnc-HPCAL1-1	chr2:10589870-10589997	XLOC_001342
14	lnc-HPCAL1-1	chr2:10589870-10589997	XLOC_001342

No data

Variant related genes	Relation type
ENSG00000257135	TF binding region
ENSG00000217258	TF binding region
ODC1	TF binding region
SNORA80B	TF binding region
ENSG00000257135	CpG island
ENSG00000217258	CpG island
ODC1	CpG island
SNORA80B	CpG island
ENSG00000128016	chromatin interactions
ENSG00000133056	chromatin interactions
ENSG00000217258	chromatin interactions
ENSG00000148297	chromatin interactions
ENSG00000115756	chromatin interactions
ENSG00000115761	chromatin interactions
ENSG00000243477	chromatin interactions
ENSG00000242110	chromatin interactions
ENSG00000148303	chromatin interactions
ENSG00000090020	chromatin interactions
ENSG00000162642	chromatin interactions
ENSG00000063046	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000165948	chromatin interactions
ENSG00000172059	chromatin interactions
ENSG00000186792	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000136807	chromatin interactions
ENSG00000134769	chromatin interactions
ENSG00000264030	chromatin interactions
ENSG00000149547	chromatin interactions
ENSG00000198276	chromatin interactions
ENSG00000089737	chromatin interactions
ENSG00000149269	chromatin interactions
ENSG00000271787	chromatin interactions
ENSG00000272524	chromatin interactions
ENSG00000177000	chromatin interactions
ENSG00000115750	chromatin interactions
EIF2C1	miRNA target sites
HUWE1	miRNA target sites
DICER1	miRNA target sites
CHPT1	miRNA target sites

Extended variants
information (count: 90 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200357846	chr2:10587334-10587335	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs116245326	chr2:10587343-10587344	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs559460530	chr2:10587355-10587356	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs550397840	chr2:10587365-10587366	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs28362378	chr2:10587370-10587371	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144229860	chr2:10587374-10587375	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs372256804	chr2:10587379-10587380	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs10490729	chr2:10587393-10587394	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530710819	chr2:10587401-10587402	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs549288588	chr2:10587409-10587410	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs536929574	chr2:10587413-10587414	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs377353326	chr2:10587450-10587451	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs28362377	chr2:10587504-10587505	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs34885558	chr2:10587508-10587509	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs567307987	chr2:10587528-10587529	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs34145750	chr2:10587537-10587538	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs28362376	chr2:10587545-10587546	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs181138553	chr2:10587565-10587566	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs34007534	chr2:10587570-10587571	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs530214071	chr2:10587606-10587607	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs546902944	chr2:10587702-10587703	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs539134939	chr2:10587738-10587739	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs559433926	chr2:10587760-10587761	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs557265763	chr2:10587778-10587779	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs566793109	chr2:10587798-10587799	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs542934741	chr2:10587859-10587860	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs555265161	chr2:10587866-10587867	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs573598448	chr2:10587868-10587869	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs2430422	chr2:10587869-10587870	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs374816611	chr2:10587895-10587896	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs532875798	chr2:10587897-10587898	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs34608521	chr2:10587949-10587950	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs558481132	chr2:10587970-10587971	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs545133914	chr2:10587999-10588000	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs146435265	chr2:10588031-10588032	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
36	rs115030661	chr2:10588045-10588046	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs538382777	chr2:10588051-10588052	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
38	rs554745040	chr2:10588055-10588056	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
39	rs548782636	chr2:10588087-10588088	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
40	rs567195721	chr2:10588109-10588110	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
41	rs2302615	chr2:10588138-10588139	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs28362374	chr2:10588179-10588180	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
43	rs2302616	chr2:10588191-10588192	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs34562944	chr2:10588198-10588199	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
45	rs369899055	chr2:10588218-10588219	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
46	rs538755970	chr2:10588392-10588393	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
47	rs28362372	chr2:10588422-10588423	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
48	rs551085591	chr2:10588426-10588427	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
49	rs569267026	chr2:10588467-10588468	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
50	rs28742580	chr2:10588552-10588553	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10573000-10587400	Weak transcription	Right Atrium	heart
2	chr2:10577200-10587800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:10580000-10587400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:10580000-10587400	Weak transcription	Stomach Mucosa	stomach
5	chr2:10582600-10587400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:10584600-10587600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:10584800-10587400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:10584800-10587400	Weak transcription	Pancreas	Pancrea
9	chr2:10585000-10587400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:10585000-10587400	Weak transcription	Ovary	ovary
11	chr2:10585000-10587400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:10585000-10587400	Weak transcription	Right Ventricle	heart
13	chr2:10585000-10587600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:10585000-10587600	Weak transcription	Esophagus	oesophagus
15	chr2:10585000-10587600	Transcr. at gene 5' and 3'	NHEK	skin
16	chr2:10585000-10587800	Weak transcription	Spleen	Spleen
17	chr2:10585200-10587400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:10585200-10587400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:10585200-10587400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:10585200-10587800	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr2:10585200-10588000	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr2:10585400-10587400	Enhancers	Brain Hippocampus Middle	brain
23	chr2:10585600-10587400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:10585600-10588000	Active TSS	Fetal Kidney	kidney
25	chr2:10585600-10589000	Active TSS	GM12878-XiMat	blood
26	chr2:10585800-10587400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr2:10586000-10587400	Enhancers	Primary hematopoietic stem cells	blood
28	chr2:10586000-10587400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:10586000-10589600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr2:10586200-10587400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:10586200-10587800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:10586200-10588200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr2:10586200-10588800	Active TSS	Fetal Muscle Trunk	muscle
34	chr2:10586200-10589000	Active TSS	HSMM	muscle
35	chr2:10586200-10589000	Active TSS	HSMMtube	muscle
36	chr2:10586200-10589800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:10586400-10587400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:10586400-10587400	Enhancers	Colon Smooth Muscle	Colon
39	chr2:10586400-10587600	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr2:10586400-10587600	Flanking Active TSS	Dnd41	blood
41	chr2:10586400-10587800	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr2:10586400-10588800	Active TSS	Colonic Mucosa	Colon
43	chr2:10586400-10589000	Active TSS	Hela-S3	cervix
44	chr2:10586600-10587400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:10586600-10587400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr2:10586600-10587400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr2:10586600-10587400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:10586600-10587400	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr2:10586600-10587400	Enhancers	Rectal Smooth Muscle	rectum
50	chr2:10586600-10587400	Flanking Active TSS	HepG2	liver

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