Variant report

Variant	rs2794649
Chromosome Location	chr10:1035612-1035613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr10:1035289-1035836	K562	blood:	n/a	n/a
2	POLR2A	chr10:1035353-1036081	K562	blood:	n/a	n/a
3	WRNIP1	chr10:1035332-1035873	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:1035324-1036345	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:1034967-1035991	HepG2	liver:	n/a	n/a
6	ZNF263	chr10:1033469-1035694	HEK293-T-REx	kidney:	n/a	chr10:1034808-1034817 chr10:1033951-1033960
7	IRF1	chr10:1035278-1035658	K562	blood:	n/a	n/a
8	POLR2A	chr10:1032930-1035641	IMR90	lung:	n/a	n/a
9	MXI1	chr10:1032982-1035874	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr10:1032933-1036170	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:1034188-1035722	K562	blood:	n/a	n/a
12	POLR2A	chr10:1035280-1036018	A549	lung:	n/a	n/a
13	POLR2A	chr10:1035395-1035686	Hela-S3	cervix:	n/a	n/a
14	MXI1	chr10:1032884-1035669	IMR90	lung:	n/a	n/a
15	POLR2A	chr10:1035414-1036009	HepG2	liver:	n/a	n/a
16	YY1	chr10:1035370-1035629	GM12878	blood:	n/a	n/a
17	POLR2A	chr10:1035391-1035619	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

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	chr10:1033347..1035141-chr10:1035280..1036978,2	MCF-7	breast:
9	chr10:1033196..1035740-chr10:1100283..1103390,4	K562	blood:
10	chr10:1003784..1006528-chr10:1035596..1037131,2	K562	blood:
11	chr10:1031711..1035740-chr10:1100728..1103796,4	K562	blood:
12	chr10:1034471..1036574-chr10:1093266..1095946,3	K562	blood:
13	chr10:974636..980819-chr10:1029938..1037009,15	MCF-7	breast:

No data

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

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

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]
rs1250900	0.87[AFR][1000 genomes]
rs2620943	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2620944	1.00[YRI][hapmap]
rs4880777	1.00[YRI][hapmap]
rs7915678	1.00[YRI][hapmap]
rs7918994	1.00[YRI][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	chr10:1033200-1036000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr10:1033400-1036200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr10:1033600-1035800	Active TSS	HSMMtube	muscle
4	chr10:1033600-1036000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr10:1033600-1036000	Active TSS	A549	lung
6	chr10:1033800-1036200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr10:1034000-1036000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
8	chr10:1034600-1035800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:1034800-1035800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr10:1034800-1036000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr10:1034800-1036000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:1035000-1035800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr10:1035000-1035800	Enhancers	Gastric	stomach
14	chr10:1035000-1036000	Flanking Active TSS	Liver	Liver
15	chr10:1035000-1036000	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr10:1035000-1036000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr10:1035000-1036000	Enhancers	Spleen	Spleen
18	chr10:1035000-1036200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr10:1035000-1037200	Enhancers	Small Intestine	intestine
20	chr10:1035000-1038800	Weak transcription	Aorta	Aorta
21	chr10:1035000-1094000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr10:1035200-1035800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:1035200-1035800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr10:1035200-1035800	Enhancers	Fetal Lung	lung
25	chr10:1035200-1035800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr10:1035200-1035800	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr10:1035200-1036000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:1035200-1036000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr10:1035200-1036000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:1035200-1036000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:1035200-1036000	Flanking Active TSS	Fetal Thymus	thymus
32	chr10:1035200-1036000	Flanking Active TSS	Right Ventricle	heart
33	chr10:1035200-1036000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr10:1035200-1036200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr10:1035200-1036200	Enhancers	Stomach Mucosa	stomach
36	chr10:1035200-1036400	Transcr. at gene 5' and 3'	Dnd41	blood
37	chr10:1035200-1037200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr10:1035400-1035800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr10:1035400-1035800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
40	chr10:1035400-1035800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
41	chr10:1035400-1035800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:1035400-1035800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr10:1035400-1035800	Enhancers	Fetal Muscle Trunk	muscle
44	chr10:1035400-1035800	Flanking Active TSS	HUVEC	blood vessel
45	chr10:1035400-1035800	Flanking Active TSS	NHDF-Ad	bronchial
46	chr10:1035400-1035800	Flanking Active TSS	NHLF	lung
47	chr10:1035400-1035800	Transcr. at gene 5' and 3'	Osteobl	bone
48	chr10:1035400-1036000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr10:1035400-1036000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:1035400-1036000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived

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