Variant report

Variant	rs10949965
Chromosome Location	chr7:64531550-64531551
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	chr7:64531465-64531921	K562	blood:	n/a	n/a
2	POLR2A	chr7:64530712-64531675	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr7:64531329-64531673	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000227113	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10234341	1.00[EUR][1000 genomes]
rs10237712	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10247582	1.00[EUR][1000 genomes]
rs10248989	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10807688	0.83[AMR][1000 genomes]
rs11768146	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11771328	0.82[AFR][1000 genomes]
rs13232354	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13233340	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1709519	0.83[AMR][1000 genomes]
rs1815140	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1830008	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1972156	0.83[AMR][1000 genomes]
rs2049441	0.83[AMR][1000 genomes]
rs2140725	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs28566658	0.81[AFR][1000 genomes]
rs34107917	0.86[AFR][1000 genomes]
rs3857672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4146028	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4380813	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4422675	0.83[AMR][1000 genomes]
rs4717231	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62456523	1.00[EUR][1000 genomes]
rs6460223	0.83[AMR][1000 genomes]
rs6946394	0.83[AFR][1000 genomes]
rs6959107	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7787889	1.00[EUR][1000 genomes]
rs7789630	0.83[AMR][1000 genomes]
rs7790622	0.83[AMR][1000 genomes]

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	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv3506582	chr7:64323055-64563984	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3506583	chr7:64323055-64563984	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	esv2752165	chr7:64345822-65208605	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv888284	chr7:64406439-64562139	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv1033517	chr7:64443052-64942418	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv538893	chr7:64443052-64942418	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv1034625	chr7:64456197-64850413	Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	nsv1019089	chr7:64456197-64874187	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	nsv1023699	chr7:64456197-64942418	Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	nsv517778	chr7:64462326-65326821	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
13	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	nsv917231	chr7:64478253-65300317	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
15	esv34341	chr7:64478386-65012082	Bivalent/Poised TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
16	esv2752166	chr7:64478386-65208605	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
17	nsv1029796	chr7:64494934-65302696	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
18	nsv916005	chr7:64499811-65012082	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	nsv533081	chr7:64499945-65208605	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
20	esv3339156	chr7:64510176-65349050	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
21	nsv888285	chr7:64511564-64662075	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv888286	chr7:64529883-64800432	Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64499600-64541000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:64499800-64541000	Weak transcription	Lung	lung
3	chr7:64499800-64541000	Weak transcription	Ovary	ovary
4	chr7:64500000-64540200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:64500000-64541000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:64500200-64541000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:64500200-64541000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:64500200-64541000	Weak transcription	NH-A	brain
9	chr7:64500400-64533800	Weak transcription	NHEK	skin
10	chr7:64500400-64541000	Weak transcription	Brain Germinal Matrix	brain
11	chr7:64500400-64541000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:64500600-64541000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:64500600-64541000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:64500600-64541000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:64500600-64541000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:64500600-64541000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:64500600-64541000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:64500600-64541000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:64500600-64541000	Weak transcription	Hela-S3	cervix
20	chr7:64500600-64541200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr7:64500800-64541200	Weak transcription	Primary T cells from cord blood	blood
22	chr7:64501000-64541000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:64504800-64541000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:64507000-64541000	Weak transcription	Pancreas	Pancrea
25	chr7:64511000-64532000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:64515400-64541200	Weak transcription	Aorta	Aorta
27	chr7:64515800-64541200	Weak transcription	Gastric	stomach
28	chr7:64517200-64532000	Weak transcription	Fetal Stomach	stomach
29	chr7:64517200-64535000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:64517600-64534600	Weak transcription	GM12878-XiMat	blood
31	chr7:64518600-64534800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:64518600-64541000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:64520200-64541200	Weak transcription	A549	lung
34	chr7:64520800-64541000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:64521800-64541200	Weak transcription	Spleen	Spleen
36	chr7:64522600-64541000	Weak transcription	Brain Anterior Caudate	brain
37	chr7:64522800-64531800	Weak transcription	Left Ventricle	heart
38	chr7:64522800-64541000	Weak transcription	Right Ventricle	heart
39	chr7:64522800-64541000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:64522800-64541200	Weak transcription	Brain Angular Gyrus	brain
41	chr7:64523000-64541000	Weak transcription	Psoas Muscle	Psoas
42	chr7:64523200-64541000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr7:64523200-64541200	Weak transcription	Brain Hippocampus Middle	brain
44	chr7:64523600-64541000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:64523800-64541000	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:64524200-64541000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr7:64524200-64541000	Weak transcription	HSMM	muscle
48	chr7:64524800-64541000	Weak transcription	Liver	Liver
49	chr7:64525200-64538800	Weak transcription	K562	blood
50	chr7:64525800-64534000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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