Variant report

Variant	rs4730529
Chromosome Location	chr7:111976914-111976915
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111975441..111977682-chr7:111980035..111981752,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1016274	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10224887	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10238141	0.81[JPT][hapmap]
rs10252741	0.95[ASN][1000 genomes]
rs10272976	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11763768	0.81[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs11768719	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11773393	0.81[JPT][hapmap]
rs13230061	0.81[JPT][hapmap]
rs17159351	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs2107117	0.94[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2188534	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2249151	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249157	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2520470	0.85[ASN][1000 genomes]
rs2520473	0.81[CHB][hapmap]
rs2520474	0.85[ASN][1000 genomes]
rs2520475	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2520476	0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2523039	0.81[JPT][hapmap]
rs2708597	0.81[CHB][hapmap]
rs28781733	0.96[ASN][1000 genomes]
rs28805003	0.96[ASN][1000 genomes]
rs28817601	0.96[ASN][1000 genomes]
rs3823514	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3823515	0.81[CHB][hapmap]
rs3948719	0.83[CEU][hapmap];0.87[ASN][1000 genomes]
rs4730516	0.81[JPT][hapmap]
rs56969420	0.81[ASN][1000 genomes]
rs66788052	0.96[ASN][1000 genomes]
rs6944662	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6955231	0.81[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs735150	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736771	0.85[CEU][hapmap]
rs7781261	0.97[ASN][1000 genomes]
rs7781393	0.97[ASN][1000 genomes]
rs7795336	0.81[JPT][hapmap]
rs7802828	0.89[CEU][hapmap]
rs886353	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers 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
4	nsv5902	chr7:111952128-111997265	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111926200-111979600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:111926600-111982200	Weak transcription	Right Ventricle	heart
3	chr7:111928600-111978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:111931000-111981000	Weak transcription	HSMMtube	muscle
5	chr7:111943000-111978600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:111943000-111985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:111945200-111986800	Weak transcription	Hela-S3	cervix
8	chr7:111947400-111981000	Weak transcription	Brain Angular Gyrus	brain
9	chr7:111956200-111977200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:111956200-111982400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:111956200-111983200	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:111957400-111980200	Weak transcription	NHDF-Ad	bronchial
13	chr7:111957800-111980200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:111958800-111987400	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:111959000-111982400	Weak transcription	HUVEC	blood vessel
16	chr7:111960800-111990000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:111961000-111987000	Weak transcription	Small Intestine	intestine
18	chr7:111961800-111986000	Weak transcription	K562	blood
19	chr7:111962000-111978800	Weak transcription	HSMM	muscle
20	chr7:111962200-111978600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr7:111962200-111982200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:111962400-111977800	Weak transcription	Psoas Muscle	Psoas
23	chr7:111963600-111980200	Weak transcription	A549	lung
24	chr7:111963600-111980800	Weak transcription	NHEK	skin
25	chr7:111963800-111977400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:111963800-111984400	Weak transcription	HMEC	breast
27	chr7:111963800-111987200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:111965400-111980000	Weak transcription	Brain Substantia Nigra	brain
29	chr7:111965600-111980200	Weak transcription	Brain Anterior Caudate	brain
30	chr7:111965800-111977800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:111965800-111978200	Weak transcription	Left Ventricle	heart
32	chr7:111965800-111980200	Weak transcription	Placenta	Placenta
33	chr7:111965800-111981800	Weak transcription	Colonic Mucosa	Colon
34	chr7:111965800-111985400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:111965800-111986800	Weak transcription	GM12878-XiMat	blood
36	chr7:111966000-111977800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr7:111966000-111981600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:111966000-111983200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:111966000-111985800	Weak transcription	Spleen	Spleen
40	chr7:111966000-111989600	Weak transcription	Gastric	stomach
41	chr7:111966400-111977400	Weak transcription	Adipose Nuclei	Adipose
42	chr7:111966400-111977800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:111966400-111977800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr7:111966400-111981000	Weak transcription	Ovary	ovary
45	chr7:111966400-111991400	Weak transcription	Esophagus	oesophagus
46	chr7:111966600-111977400	Weak transcription	Lung	lung
47	chr7:111966600-111977800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr7:111966600-111978000	Weak transcription	Thymus	Thymus
49	chr7:111966600-111981000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:111966600-111981600	Weak transcription	Fetal Stomach	stomach

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