Variant report

Variant	rs2896303
Chromosome Location	chr7:121035029-121035030
allele	A/G
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	chr7:121034875-121036868	GM19193	blood:	n/a	n/a
2	POLR2A	chr7:121034804-121035127	HCT-116	colon:	n/a	n/a
3	RCOR1	chr7:121034921-121035164	Hela-S3	cervix:	n/a	n/a
4	RCOR1	chr7:121034569-121035150	K562	blood:	n/a	n/a
5	JUND	chr7:121034862-121035078	HepG2	liver:	n/a	chr7:121034960-121034971
6	NFIC	chr7:121034755-121035876	GM12878	blood:	n/a	chr7:121034773-121034789
7	MAZ	chr7:121034597-121035123	GM12878	blood:	n/a	n/a
8	CUX1	chr7:121034347-121035314	GM12878	blood:	n/a	n/a
9	IRF1	chr7:121034607-121035213	K562	blood:	n/a	chr7:121034749-121034760 chr7:121034748-121034760 chr7:121034749-121034759
10	POLR2A	chr7:121034699-121035189	GM12892	blood:	n/a	n/a
11	MAFK	chr7:121034679-121035107	Hela-S3	cervix:	n/a	chr7:121034857-121034872
12	EP300	chr7:121034938-121035242	GM12878	blood:	n/a	n/a
13	STAT3	chr7:121034745-121035034	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:121034841-121035237	GM12892	blood:	n/a	n/a
15	ARID3A	chr7:121034882-121035165	K562	blood:	n/a	n/a
16	HNF4G	chr7:121034879-121035161	HepG2	liver:	n/a	chr7:121035019-121035027 chr7:121035051-121035066
17	EP300	chr7:121034897-121035193	HepG2	liver:	n/a	n/a
18	MAZ	chr7:121034807-121035202	K562	blood:	n/a	n/a
19	RUNX3	chr7:121034654-121035267	GM12878	blood:	n/a	n/a
20	RUNX3	chr7:121034833-121035196	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:121034389-121035181	GM12891	blood:	n/a	n/a
22	NR2F2	chr7:121034678-121035282	K562	blood:	n/a	n/a
23	WRNIP1	chr7:121034959-121035117	GM12878	blood:	n/a	n/a
24	BRCA1	chr7:121034885-121035179	Hela-S3	cervix:	n/a	n/a
25	TEAD4	chr7:121034600-121035229	K562	blood:	n/a	n/a
26	HCFC1	chr7:121034821-121035172	K562	blood:	n/a	n/a
27	MYC	chr7:121034510-121035233	K562	blood:	n/a	n/a
28	MAFK	chr7:121034671-121035036	IMR90	lung:	n/a	chr7:121034857-121034872
29	EP300	chr7:121034481-121035222	K562	blood:	n/a	n/a
30	ARID3A	chr7:121034975-121035177	HepG2	liver:	n/a	n/a
31	ATF1	chr7:121034869-121035209	K562	blood:	n/a	n/a
32	IRF1	chr7:121034420-121035661	K562	blood:	n/a	chr7:121034749-121034760 chr7:121034748-121034760 chr7:121034749-121034759
33	POLR2A	chr7:121034459-121035217	HepG2	liver:	n/a	n/a
34	MAFF	chr7:121034583-121035081	K562	blood:	n/a	chr7:121034855-121034873
35	MAFK	chr7:121034677-121035047	HepG2	liver:	n/a	chr7:121034857-121034872
36	GATA2	chr7:121034870-121035214	K562	blood:	n/a	n/a
37	POLR2A	chr7:121034650-121035228	GM12891	blood:	n/a	n/a
38	POLR2A	chr7:121031072-121037039	K562	blood:	n/a	n/a
39	POLR2A	chr7:121034575-121036931	GM19099	blood:	n/a	n/a
40	POLR2A	chr7:121034372-121035275	GM12878	blood:	n/a	n/a
41	EBF1	chr7:121034866-121035201	GM12878	blood:	n/a	n/a
42	EP300	chr7:121034751-121035195	GM12878	blood:	n/a	n/a
43	MAFK	chr7:121034686-121035050	HepG2	liver:	n/a	chr7:121034857-121034872
44	POLR2A	chr7:121034414-121037239	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr7:121032402-121036821	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:121034885-121035182	GM12892	blood:	n/a	n/a
47	TCF7L2	chr7:121034853-121035185	Hela-S3	cervix:	n/a	n/a
48	ATF2	chr7:121034605-121035325	GM12878	blood:	n/a	n/a
49	POLR2A	chr7:121034262-121036939	GM12878	blood:	n/a	n/a
50	POLR2A	chr7:121034406-121035237	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:121035002..121037392-chr7:121079786..121082049,2	K562	blood:
2	chr7:121034329..121037845-chrX:23092301..23095324,3	K562	blood:
3	chr7:121034886..121037643-chr7:121057416..121062764,7	MCF-7	breast:
4	chr7:121004060..121005597-chr7:121034745..121036816,2	K562	blood:
5	chr7:120380508..120383141-chr7:121034892..121036653,2	K562	blood:
6	chr7:121024298..121027882-chr7:121032352..121035031,6	MCF-7	breast:

Variant related genes	Relation type
CYCSP19	TF binding region
ENSG00000174028	Chromatin interaction
ENSG00000184408	Chromatin interaction
ENSG00000196937	Chromatin interaction
ENSG00000227371	Chromatin interaction
ENSG00000234985	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10225647	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10232028	1.00[AMR][1000 genomes]
rs10237944	1.00[AMR][1000 genomes]
rs10248910	1.00[AMR][1000 genomes]
rs10270194	1.00[AMR][1000 genomes]
rs10274424	1.00[AMR][1000 genomes]
rs12111905	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12535821	1.00[AMR][1000 genomes]
rs13438018	1.00[AMR][1000 genomes]
rs17143353	1.00[AMR][1000 genomes]
rs17143357	1.00[AMR][1000 genomes]
rs28635533	1.00[AMR][1000 genomes]
rs56835233	1.00[AMR][1000 genomes]
rs57412322	1.00[AMR][1000 genomes]
rs59723881	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6943177	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6944198	1.00[AMR][1000 genomes]
rs6944409	1.00[AMR][1000 genomes]
rs6960006	1.00[AMR][1000 genomes]
rs6975632	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
2	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121016000-121035400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:121016200-121035600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:121018000-121035400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:121018600-121035600	Weak transcription	Gastric	stomach
5	chr7:121018800-121035400	Weak transcription	Placenta	Placenta
6	chr7:121020000-121035400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:121026200-121035400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:121026200-121035600	Weak transcription	Left Ventricle	heart
9	chr7:121026200-121035800	Weak transcription	Spleen	Spleen
10	chr7:121026600-121035400	Weak transcription	Pancreas	Pancrea
11	chr7:121026600-121035600	Weak transcription	Aorta	Aorta
12	chr7:121030800-121035600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:121032200-121035400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:121032600-121035400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:121032600-121035400	Weak transcription	Lung	lung
16	chr7:121033400-121035400	Weak transcription	Small Intestine	intestine
17	chr7:121033600-121035400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr7:121033600-121036600	Active TSS	Fetal Intestine Small	intestine
19	chr7:121033600-121036600	Active TSS	GM12878-XiMat	blood
20	chr7:121033800-121035400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:121033800-121035400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr7:121033800-121035600	Enhancers	Primary T cells from cord blood	blood
23	chr7:121034000-121035200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr7:121034000-121035400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr7:121034000-121035400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr7:121034200-121035200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:121034200-121035200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr7:121034200-121036600	Active TSS	Fetal Intestine Large	intestine
29	chr7:121034400-121035200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:121034400-121035400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:121034400-121035600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr7:121034400-121035800	Flanking Active TSS	Liver	Liver
33	chr7:121034600-121035200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr7:121034600-121035200	Enhancers	Fetal Heart	heart
35	chr7:121034600-121035200	Flanking Active TSS	Hela-S3	cervix
36	chr7:121034600-121035200	Flanking Active TSS	HMEC	breast
37	chr7:121034600-121035200	Flanking Active TSS	K562	blood
38	chr7:121034600-121035200	Flanking Active TSS	NH-A	brain
39	chr7:121034600-121035200	Flanking Active TSS	NHDF-Ad	bronchial
40	chr7:121034600-121035400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:121034600-121035400	Enhancers	Colon Smooth Muscle	Colon
42	chr7:121034600-121035400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr7:121034600-121035400	Enhancers	Fetal Lung	lung
44	chr7:121034600-121035400	Enhancers	Ovary	ovary
45	chr7:121034600-121035400	Flanking Active TSS	HUVEC	blood vessel
46	chr7:121034600-121035400	Flanking Active TSS	Osteobl	bone
47	chr7:121034600-121035800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:121034600-121036000	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr7:121034600-121036600	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr7:121034600-121036600	Active TSS	Duodenum Mucosa	Duodenum

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