Variant report

Variant	rs2620943
Chromosome Location	chr10:1035034-1035035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:1032891-1035077	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOS	chr10:1034891-1035178	MCF10A-Er-Src	breast:	n/a	chr10:1035022-1035033
3	CTCF	chr10:1033632-1035197	A549	lung:	n/a	chr10:1034472-1034485
4	POLR2A	chr10:1034025-1035110	K562	blood:	n/a	n/a
5	MAX	chr10:1033648-1035097	A549	lung:	n/a	chr10:1034077-1034086
6	ZNF384	chr10:1034163-1035206	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:1033171-1035101	HepG2	liver:	n/a	n/a
8	GABPA	chr10:1033822-1035105	A549	lung:	n/a	n/a
9	FOS	chr10:1034978-1035047	MCF10A-Er-Src	breast:	n/a	chr10:1035022-1035033
10	MAX	chr10:1033563-1035147	A549	lung:	n/a	chr10:1034077-1034086
11	POLR2A	chr10:1033055-1035050	GM12878	blood:	n/a	n/a
12	MYC	chr10:1033652-1035118	A549	lung:	n/a	chr10:1034077-1034086
13	POLR2A	chr10:1034967-1035991	HepG2	liver:	n/a	n/a
14	ZNF263	chr10:1033469-1035694	HEK293-T-REx	kidney:	n/a	chr10:1034808-1034817 chr10:1033951-1033960
15	MAZ	chr10:1032887-1035296	IMR90	lung:	n/a	chr10:1034077-1034086
16	POLR2A	chr10:1032930-1035641	IMR90	lung:	n/a	n/a
17	MTA3	chr10:1033575-1035168	GM12878	blood:	n/a	n/a
18	MYC	chr10:1033720-1035098	MCF10A-Er-Src	breast:	n/a	chr10:1034077-1034086
19	GABPA	chr10:1033671-1035102	A549	lung:	n/a	n/a
20	TCF12	chr10:1033604-1035063	A549	lung:	n/a	chr10:1035027-1035036 chr10:1033825-1033835
21	POLR2A	chr10:1033449-1035155	MCF10A-Er-Src	breast:	n/a	n/a
22	MXI1	chr10:1032982-1035874	SK-N-SH	brain:	n/a	n/a
23	JUN	chr10:1034044-1035124	K562	blood:	n/a	chr10:1035022-1035033
24	POLR2A	chr10:1033775-1035290	NB4	blood:	n/a	n/a
25	POLR2A	chr10:1032933-1036170	GM12878	blood:	n/a	n/a
26	ZNF384	chr10:1034194-1035306	K562	blood:	n/a	n/a
27	POLR2A	chr10:1034188-1035722	K562	blood:	n/a	n/a
28	POLR2A	chr10:1033500-1035056	GM12892	blood:	n/a	n/a
29	CTCF	chr10:1033455-1035045	SK-N-SH	brain:	n/a	chr10:1034472-1034485
30	CEBPB	chr10:1034739-1035062	A549	lung:	n/a	n/a
31	POLR2A	chr10:1032984-1035179	MCF10A-Er-Src	breast:	n/a	n/a
32	SIN3AK20	chr10:1033809-1035086	MCF-7	breast:	n/a	n/a
33	POLR2A	chr10:1033042-1035045	GM12891	blood:	n/a	n/a
34	MXI1	chr10:1032884-1035669	IMR90	lung:	n/a	n/a
35	POLR2A	chr10:1032982-1035036	K562	blood:	n/a	n/a
36	POLR2A	chr10:1032898-1035197	GM12878	blood:	n/a	n/a
37	SIN3A	chr10:1033309-1035172	H1-hESC	embryonic stem cell:	n/a	n/a
38	PML	chr10:1033473-1035136	GM12878	blood:	n/a	n/a
39	CEBPB	chr10:1035014-1035092	K562	blood:	n/a	n/a
40	BATF	chr10:1034872-1035161	GM12878	blood:	n/a	chr10:1035022-1035033
41	NFATC1	chr10:1034050-1035136	GM12878	blood:	n/a	n/a
42	NR2F2	chr10:1033963-1035129	K562	blood:	n/a	n/a
43	POLR2A	chr10:1033829-1035055	PFSK-1	brain:	n/a	n/a
44	TBL1XR1	chr10:1034095-1035126	K562	blood:	n/a	n/a
45	CEBPB	chr10:1034335-1035193	IMR90	lung:	n/a	n/a
46	JUN	chr10:1033255-1035043	K562	blood:	n/a	chr10:1035022-1035033
47	HEY1	chr10:1033327-1035188	K562	blood:	n/a	chr10:1033933-1033948
48	CHD1	chr10:1034788-1035055	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr10:1034989-1035035	HUVEC	blood vessel:	n/a	n/a
50	NFIC	chr10:1034045-1035035	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:975309..980832-chr10:1031626..1035973,12	K562	blood:
2	chr10:1033990..1039615-chr10:1093691..1098446,7	MCF-7	breast:
3	chr10:1031887..1035944-chr10:1099515..1103666,8	MCF-7	breast:
4	chr10:1034243..1036141-chr10:1058339..1060305,2	K562	blood:
5	chr10:974439..980732-chr10:1030011..1038533,28	MCF-7	breast:
6	chr10:976344..979673-chr10:1032747..1036349,14	K562	blood:
7	chr10:1034367..1036220-chr10:1101305..1103834,2	MCF-7	breast:
8	chr10:1033196..1035740-chr10:1100283..1103390,4	K562	blood:
9	chr10:1031711..1035740-chr10:1100728..1103796,4	K562	blood:
10	chr10:1034471..1036574-chr10:1093266..1095946,3	K562	blood:
11	chr10:974636..980819-chr10:1029938..1037009,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205740	TF binding region
ENSG00000107937	Chromatin interaction
ENSG00000047056	Chromatin interaction
ENSG00000229869	Chromatin interaction
ENSG00000067064	Chromatin interaction
ENSG00000107929	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11253466	1.00[YRI][hapmap]
rs12242982	1.00[YRI][hapmap]
rs12259527	1.00[YRI][hapmap]
rs12264328	1.00[YRI][hapmap]
rs12267422	1.00[YRI][hapmap]
rs1250884	1.00[ASW][hapmap];0.90[LWK][hapmap];0.91[MKK][hapmap]
rs1250900	0.87[AFR][1000 genomes]
rs2620944	1.00[YRI][hapmap]
rs2794649	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4880777	1.00[YRI][hapmap]
rs6560856	1.00[YRI][hapmap]
rs7095047	1.00[ASW][hapmap]
rs7915678	1.00[YRI][hapmap]
rs7918994	1.00[YRI][hapmap]
rs947402	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916591	chr10:224406-1088734	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1054659	chr10:611444-1133578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv466697	chr10:734229-1129527	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv549765	chr10:734229-1129527	Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv530116	chr10:776548-1401075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv1052540	chr10:887562-1300134	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv540407	chr10:887562-1300134	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv533861	chr10:945438-1382068	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv530117	chr10:945438-1729634	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv540408	chr10:955835-1260680	Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	nsv817532	chr10:964660-1885945	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	esv2753756	chr10:985264-1052950	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv1050577	chr10:986723-1277854	Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv540409	chr10:986723-1277854	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv949405	chr10:1010464-1376105	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	nsv1048254	chr10:1016006-1146595	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
18	esv1812809	chr10:1021156-1051728	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
19	esv1813158	chr10:1021156-1062915	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
20	esv1831483	chr10:1021156-1062915	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
21	nsv1040178	chr10:1024910-1126104	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
22	nsv540410	chr10:1024910-1126104	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1033000-1035200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:1033000-1035400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr10:1033000-1035400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr10:1033200-1035200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr10:1033200-1035400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr10:1033200-1035400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr10:1033200-1035400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr10:1033200-1036000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr10:1033400-1035200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:1033400-1035200	Active TSS	Fetal Kidney	kidney
11	chr10:1033400-1035200	Active TSS	Fetal Thymus	thymus
12	chr10:1033400-1035400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:1033400-1036200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr10:1033600-1035200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:1033600-1035200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:1033600-1035200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:1033600-1035200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:1033600-1035200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr10:1033600-1035200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:1033600-1035200	Active TSS	Left Ventricle	heart
21	chr10:1033600-1035200	Active TSS	Lung	lung
22	chr10:1033600-1035200	Active TSS	Ovary	ovary
23	chr10:1033600-1035200	Active TSS	Pancreas	Pancrea
24	chr10:1033600-1035200	Active TSS	Psoas Muscle	Psoas
25	chr10:1033600-1035200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr10:1033600-1035200	Active TSS	Right Ventricle	heart
27	chr10:1033600-1035200	Active TSS	Stomach Mucosa	stomach
28	chr10:1033600-1035400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:1033600-1035400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr10:1033600-1035400	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr10:1033600-1035400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr10:1033600-1035400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:1033600-1035400	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr10:1033600-1035400	Active TSS	Brain Hippocampus Middle	brain
35	chr10:1033600-1035400	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr10:1033600-1035400	Active TSS	Fetal Intestine Large	intestine
37	chr10:1033600-1035400	Active TSS	Right Atrium	heart
38	chr10:1033600-1035400	Bivalent/Poised TSS	HepG2	liver
39	chr10:1033600-1035400	Active TSS	HSMM	muscle
40	chr10:1033600-1035400	Active TSS	NHDF-Ad	bronchial
41	chr10:1033600-1035400	Active TSS	NHLF	lung
42	chr10:1033600-1035600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr10:1033600-1035600	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr10:1033600-1035800	Active TSS	HSMMtube	muscle
45	chr10:1033600-1036000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr10:1033600-1036000	Active TSS	A549	lung
47	chr10:1033800-1035200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:1033800-1035200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:1033800-1035200	Active TSS	Brain Angular Gyrus	brain
50	chr10:1033800-1035200	Active TSS	Esophagus	oesophagus

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