Variant report

Variant	rs10272976
Chromosome Location	chr7:111967040-111967041
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111965666..111967562-chr7:111973508..111976479,2	MCF-7	breast:
2	chr7:111960085..111962357-chr7:111965697..111968570,2	K562	blood:
3	chr7:111957865..111960569-chr7:111963076..111967286,5	K562	blood:
4	chr7:111966020..111968583-chr7:111970529..111973341,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1016274	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10224887	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10233673	0.88[CEU][hapmap]
rs10252741	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10253713	0.82[ASN][1000 genomes]
rs11763356	0.81[ASN][1000 genomes]
rs11768608	0.80[CHD][hapmap]
rs11768719	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769219	0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs11773464	0.94[ASW][hapmap];0.88[CEU][hapmap];0.88[GIH][hapmap]
rs12537746	0.88[CEU][hapmap]
rs12705817	0.88[CEU][hapmap];0.88[GIH][hapmap]
rs17159351	0.86[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap]
rs2107117	0.81[ASW][hapmap];0.90[GIH][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2188534	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.83[ASN][1000 genomes]
rs2249151	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2249157	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2520470	0.83[ASN][1000 genomes]
rs2520474	0.83[ASN][1000 genomes]
rs2520475	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2520476	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2520482	0.88[MEX][hapmap]
rs2708588	0.85[CHD][hapmap]
rs2708592	0.85[CHD][hapmap]
rs2708595	0.85[CHD][hapmap]
rs2708603	0.85[CHD][hapmap]
rs28781733	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28805003	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28817601	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3807884	0.80[CHD][hapmap]
rs3823514	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823515	0.82[ASN][1000 genomes]
rs3948719	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4727766	0.88[CEU][hapmap];0.88[GIH][hapmap];0.90[MKK][hapmap]
rs4730524	0.85[CEU][hapmap]
rs4730529	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]
rs66788052	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6944662	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6949809	0.88[CEU][hapmap];0.88[GIH][hapmap];0.82[MKK][hapmap]
rs6976889	0.88[CEU][hapmap]
rs6978767	0.82[CEU][hapmap]
rs735150	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7781245	0.80[CHD][hapmap]
rs7781261	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7781393	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs886353	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs960348	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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:116 , 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	chr7:111950200-111967400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:111956200-111977200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:111956200-111982400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:111956200-111983200	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:111957400-111980200	Weak transcription	NHDF-Ad	bronchial
14	chr7:111957600-111967600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr7:111957800-111980200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:111958600-111968600	Strong transcription	Dnd41	blood
17	chr7:111958800-111968000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr7:111958800-111987400	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:111959000-111972400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:111959000-111982400	Weak transcription	HUVEC	blood vessel
21	chr7:111959200-111969400	Weak transcription	Stomach Mucosa	stomach
22	chr7:111960800-111990000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:111961000-111987000	Weak transcription	Small Intestine	intestine
24	chr7:111961800-111986000	Weak transcription	K562	blood
25	chr7:111962000-111978800	Weak transcription	HSMM	muscle
26	chr7:111962200-111970400	Strong transcription	Liver	Liver
27	chr7:111962200-111971000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:111962200-111971000	Weak transcription	Fetal Brain Female	brain
29	chr7:111962200-111978600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:111962200-111982200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:111962400-111967800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:111962400-111967800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:111962400-111969800	Weak transcription	HepG2	liver
34	chr7:111962400-111971000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:111962400-111977800	Weak transcription	Psoas Muscle	Psoas
36	chr7:111962600-111967400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr7:111962600-111972800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr7:111962800-111968600	Strong transcription	Primary T cells from cord blood	blood
39	chr7:111963000-111967800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:111963200-111971000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:111963200-111976400	Weak transcription	Fetal Heart	heart
42	chr7:111963400-111967600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:111963400-111967600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:111963400-111968400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:111963400-111968600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:111963400-111971000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:111963600-111971000	Weak transcription	Fetal Brain Male	brain
48	chr7:111963600-111976000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:111963600-111980200	Weak transcription	A549	lung
50	chr7:111963600-111980800	Weak transcription	NHEK	skin

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