Variant report

Variant	rs7456018
Chromosome Location	chr7:64029658-64029659
allele	C/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	CTCF	chr7:64029640-64029790	HCM	heart:	n/a	chr7:64029769-64029787
2	CTCF	chr7:64029580-64029730	HFF-Myc	foreskin:	n/a	n/a
3	POLR2A	chr7:64029525-64029939	K562	blood:	n/a	n/a
4	CTCF	chr7:64029600-64029750	AG04449	skin:	n/a	n/a
5	CTCF	chr7:64029640-64029790	AG04450	lung:	n/a	chr7:64029769-64029787
6	CTCF	chr7:64029560-64029710	WI-38	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000235349	TF binding region

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10224643	0.87[EUR][1000 genomes]
rs10228666	0.84[EUR][1000 genomes]
rs10234885	0.84[EUR][1000 genomes]
rs10235312	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236450	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238116	1.00[ASN][1000 genomes]
rs10238379	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243731	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244141	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248313	1.00[ASN][1000 genomes]
rs10248437	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256682	1.00[ASN][1000 genomes]
rs10258736	1.00[ASN][1000 genomes]
rs10272999	0.84[AFR][1000 genomes]
rs10279234	0.89[EUR][1000 genomes]
rs11766865	1.00[ASN][1000 genomes]
rs11768537	1.00[ASN][1000 genomes]
rs11973673	0.84[AFR][1000 genomes]
rs11974106	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977336	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11979331	1.00[ASN][1000 genomes]
rs11979336	0.83[AFR][1000 genomes]
rs12111607	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12698473	1.00[ASN][1000 genomes]
rs12698474	1.00[ASN][1000 genomes]
rs12698480	0.87[EUR][1000 genomes]
rs13229310	0.84[AFR][1000 genomes]
rs13230924	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235345	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235710	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236187	0.88[EUR][1000 genomes]
rs13237045	0.86[EUR][1000 genomes]
rs13238250	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238743	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239925	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13242372	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13243255	1.00[ASN][1000 genomes]
rs13243485	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246918	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247467	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348867	0.87[EUR][1000 genomes]
rs1596927	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127039	0.82[AFR][1000 genomes]
rs35654744	1.00[ASN][1000 genomes]
rs4448144	1.00[ASN][1000 genomes]
rs4582437	1.00[ASN][1000 genomes]
rs6460159	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460160	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460169	0.80[EUR][1000 genomes]
rs6952263	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957579	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958645	1.00[ASN][1000 genomes]
rs7357287	1.00[ASN][1000 genomes]
rs7787566	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802057	1.00[ASN][1000 genomes]
rs7810249	0.82[EUR][1000 genomes]
rs912161	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429759	chr7:63662150-64110550	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv429760	chr7:63687850-64110550	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	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
4	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv429761	chr7:63747498-64096138	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
7	nsv429762	chr7:63790450-64110550	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
9	nsv1031703	chr7:63839601-64225952	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
10	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
11	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	nsv1023042	chr7:63956027-64116232	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv888271	chr7:63961212-64295884	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
14	nsv888273	chr7:63990100-64291622	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
15	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
16	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
17	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
18	nsv1021893	chr7:63995601-64155027	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
19	nsv538892	chr7:63995601-64155027	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
20	nsv888277	chr7:64023581-64054804	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64023600-64029800	Weak transcription	Gastric	stomach
2	chr7:64023600-64029800	Weak transcription	Pancreas	Pancrea
3	chr7:64028600-64029800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:64029200-64029800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:64029400-64029800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
6	chr7:64029400-64029800	Active TSS	Stomach Smooth Muscle	stomach
7	chr7:64029400-64029800	ZNF genes & repeats	Spleen	Spleen
8	chr7:64029400-64030400	Enhancers	Lung	lung
9	chr7:64029400-64030800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:64029400-64030800	Active TSS	Brain Anterior Caudate	brain
11	chr7:64029400-64031200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:64029600-64029800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:64029600-64029800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr7:64029600-64029800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr7:64029600-64029800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr7:64029600-64029800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:64029600-64029800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr7:64029600-64029800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr7:64029600-64029800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:64029600-64029800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr7:64029600-64029800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:64029600-64029800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:64029600-64029800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:64029600-64029800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:64029600-64029800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:64029600-64029800	Active TSS	Adipose Nuclei	Adipose
27	chr7:64029600-64029800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr7:64029600-64029800	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr7:64029600-64029800	Bivalent Enhancer	Fetal Thymus	thymus
30	chr7:64029600-64029800	Enhancers	Left Ventricle	heart
31	chr7:64029600-64029800	Enhancers	Ovary	ovary
32	chr7:64029600-64029800	Flanking Active TSS	Right Atrium	heart
33	chr7:64029600-64029800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
34	chr7:64029600-64030000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:64029600-64030000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr7:64029600-64030000	ZNF genes & repeats	Liver	Liver
37	chr7:64029600-64030000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
38	chr7:64029600-64030000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
39	chr7:64029600-64030000	Enhancers	Fetal Heart	heart
40	chr7:64029600-64030000	Bivalent Enhancer	Placenta	Placenta
41	chr7:64029600-64030000	Bivalent/Poised TSS	NH-A	brain
42	chr7:64029600-64030200	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr7:64029600-64030200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
44	chr7:64029600-64030200	Bivalent Enhancer	Fetal Brain Male	brain
45	chr7:64029600-64030400	Bivalent/Poised TSS	Fetal Brain Female	brain
46	chr7:64029600-64030600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr7:64029600-64030600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:64029600-64030600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
49	chr7:64029600-64030600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:64029600-64030600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin

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