Variant report

Variant	rs62432580
Chromosome Location	chr7:7721646-7721647
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7720780..7722829-chr7:8008432..8010921,2	MCF-7	breast:
2	chr7:7720832..7721819-chr7:7800536..7801542,7	MCF-7	breast:
3	chr7:7721081..7721703-chr7:7804254..7805179,2	MCF-7	breast:
4	chr7:7721232..7721744-chr7:8075592..8076157,2	MCF-7	breast:
5	chr7:7719627..7722096-chr7:8004642..8007515,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106415	Chromatin interaction
ENSG00000233108	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10486185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11761559	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11762695	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11763947	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11765275	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11771027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12702639	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13225697	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13234396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13245945	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13247039	0.93[EUR][1000 genomes]
rs1468760	0.93[EUR][1000 genomes]
rs1468761	0.93[EUR][1000 genomes]
rs17136437	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17136498	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17169361	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17169446	1.00[AFR][1000 genomes]
rs17169495	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17169565	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17546242	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2110554	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28912668	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28912672	0.81[ASN][1000 genomes]
rs28912694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28914168	0.97[ASN][1000 genomes]
rs28914835	0.93[EUR][1000 genomes]
rs28915072	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs28915973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28915985	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs28916271	1.00[AFR][1000 genomes]
rs28992771	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs28992773	1.00[AFR][1000 genomes]
rs28992774	1.00[AFR][1000 genomes]
rs34124547	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35209697	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35639902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35823742	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62432576	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62432577	0.97[ASN][1000 genomes]
rs62432578	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62432579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62432581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62432607	0.89[EUR][1000 genomes]
rs62452504	1.00[AFR][1000 genomes]
rs62452508	1.00[AFR][1000 genomes]
rs62452509	1.00[AFR][1000 genomes]
rs62452512	1.00[AFR][1000 genomes]
rs62452515	0.86[ASN][1000 genomes]
rs6964727	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7791543	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7798277	0.87[EUR][1000 genomes]
rs7800009	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9648617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9692373	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	84 gene(s)	inside rSNPs	diseases
2	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	59 gene(s)	inside rSNPs	diseases
5	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv606044	chr7:7652372-7727101	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv887479	chr7:7681131-7779091	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv887481	chr7:7681576-7779324	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887482	chr7:7682439-7785047	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887483	chr7:7682439-7798217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv887484	chr7:7692483-7769363	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv606045	chr7:7704889-7755491	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv887486	chr7:7712498-7785047	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7703400-7726800	Weak transcription	Brain Germinal Matrix	brain
2	chr7:7704400-7726400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:7706800-7743200	Weak transcription	Gastric	stomach
4	chr7:7708600-7738600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:7711600-7726400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:7714400-7722600	Weak transcription	Thymus	Thymus
7	chr7:7715800-7722600	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:7715800-7722600	Weak transcription	Pancreas	Pancrea
9	chr7:7715800-7726400	Weak transcription	Aorta	Aorta
10	chr7:7715800-7728800	Weak transcription	Right Ventricle	heart
11	chr7:7715800-7736400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:7716000-7724000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:7716000-7726400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:7716000-7727000	Weak transcription	Left Ventricle	heart
15	chr7:7716000-7733400	Weak transcription	Esophagus	oesophagus
16	chr7:7716000-7735200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:7716000-7738400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:7717800-7722600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:7717800-7749000	Weak transcription	Fetal Intestine Small	intestine
20	chr7:7718000-7722200	Weak transcription	Fetal Thymus	thymus
21	chr7:7718000-7727800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:7718000-7731400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:7719400-7722600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:7719400-7722800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr7:7720400-7722000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:7720400-7723000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:7720600-7721800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr7:7720800-7721800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:7720800-7721800	Enhancers	Duodenum Mucosa	Duodenum
30	chr7:7720800-7721800	Enhancers	Stomach Mucosa	stomach
31	chr7:7720800-7721800	Enhancers	HMEC	breast
32	chr7:7720800-7722000	Enhancers	Primary B cells from cord blood	blood
33	chr7:7720800-7722000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr7:7720800-7722600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr7:7720800-7722600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr7:7720800-7722800	Enhancers	GM12878-XiMat	blood
37	chr7:7720800-7722800	Enhancers	Hela-S3	cervix
38	chr7:7720800-7723000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:7720800-7723000	Enhancers	Dnd41	blood
40	chr7:7721000-7721800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:7721000-7721800	Enhancers	Primary B cells from peripheral blood	blood
42	chr7:7721000-7721800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr7:7721000-7722600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:7721000-7722800	Active TSS	Stomach Smooth Muscle	stomach
45	chr7:7721000-7723000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:7721200-7721800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:7721200-7722000	Enhancers	Brain Substantia Nigra	brain
48	chr7:7721200-7722400	Weak transcription	Fetal Brain Female	brain
49	chr7:7721200-7722600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:7721200-7722600	Weak transcription	Fetal Brain Male	brain

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