Variant report

Variant	rs71546632
Chromosome Location	chr7:38255638-38255639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:38254875..38255995-chr7:38357724..38359529,9	MCF-7	breast:
2	chr7:38255012..38257306-chr7:38260650..38262240,2	K562	blood:
3	chr7:38217836..38219466-chr7:38255497..38257831,2	K562	blood:
4	chr7:38146750..38147644-chr7:38255037..38256019,2	K562	blood:
5	chr7:38255022..38255645-chr7:38375302..38376120,3	MCF-7	breast:
6	chr7:38146765..38147691-chr7:38255215..38255987,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000010270	Chromatin interaction
ENSG00000211695	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11561858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12056051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12154578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12155282	0.84[AMR][1000 genomes]
rs12155480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12701609	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12701610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12701612	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12701619	0.84[AMR][1000 genomes]
rs13224408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228253	0.83[EUR][1000 genomes]
rs13228385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13230963	0.84[AMR][1000 genomes]
rs13235913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13241002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13244147	0.84[AMR][1000 genomes]
rs13244639	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17171309	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17171318	0.84[AMR][1000 genomes]
rs17171319	0.84[AMR][1000 genomes]
rs2075008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270170	0.84[AMR][1000 genomes]
rs34053049	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34362539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34367511	0.84[AMR][1000 genomes]
rs34385844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34723472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34809818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34854936	0.84[EUR][1000 genomes]
rs34928238	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34938473	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34954380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35130602	0.84[AMR][1000 genomes]
rs35268837	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35505895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35506556	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35849318	0.84[EUR][1000 genomes]
rs35899177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71546629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71546630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71546635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71546636	0.88[EUR][1000 genomes]
rs71548605	0.84[AMR][1000 genomes]
rs7349990	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7795457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9638936	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016355	chr7:38168232-38372719	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv830963	chr7:38172988-38344779	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv830964	chr7:38218708-38390518	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1030349	chr7:38227528-38372719	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv538818	chr7:38227528-38372719	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv1025974	chr7:38227528-38503472	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv538819	chr7:38227528-38503472	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv433041	chr7:38229107-38358728	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv433044	chr7:38238119-38358728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv932229	chr7:38248340-38727527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS 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	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38218600-38259200	Weak transcription	Colonic Mucosa	Colon
2	chr7:38228000-38256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:38230200-38259200	Weak transcription	K562	blood
4	chr7:38232800-38256000	Weak transcription	Fetal Brain Male	brain
5	chr7:38236800-38261600	Weak transcription	HMEC	breast
6	chr7:38237600-38258600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:38237800-38261600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:38238000-38257000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:38238000-38259200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:38238600-38268800	Weak transcription	Esophagus	oesophagus
11	chr7:38239200-38256200	Weak transcription	Aorta	Aorta
12	chr7:38239800-38256600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:38249200-38256000	Weak transcription	NHEK	skin
14	chr7:38249200-38259200	Weak transcription	Spleen	Spleen
15	chr7:38249400-38256400	Weak transcription	Thymus	Thymus
16	chr7:38249600-38256400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:38249800-38256000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:38251200-38261400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:38251400-38256400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:38251400-38256400	Weak transcription	Left Ventricle	heart
21	chr7:38251600-38270400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:38251800-38256200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:38251800-38256200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:38251800-38270200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:38252000-38272400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:38252000-38273000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:38252400-38256000	Weak transcription	Right Atrium	heart
28	chr7:38252400-38256000	Weak transcription	Right Ventricle	heart
29	chr7:38253400-38256600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:38253600-38256400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr7:38253600-38256400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:38253600-38256400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:38253800-38256400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr7:38253800-38267400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:38254000-38256200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:38254000-38256200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:38254000-38256400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:38254200-38255800	Genic enhancers	A549	lung
39	chr7:38254200-38261600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:38254400-38255800	Enhancers	Duodenum Mucosa	Duodenum
41	chr7:38254400-38255800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr7:38254400-38263200	Strong transcription	HSMMtube	muscle
43	chr7:38254600-38255800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr7:38254600-38255800	Enhancers	Liver	Liver
45	chr7:38254600-38255800	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr7:38254600-38255800	Enhancers	Fetal Heart	heart
47	chr7:38254600-38256200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:38254600-38256200	Enhancers	Fetal Intestine Large	intestine
49	chr7:38254600-38256400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:38254600-38256400	Enhancers	Fetal Intestine Small	intestine

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