Variant report

Variant	rs2312929
Chromosome Location	chr6:76194007-76194008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:76193006..76194649-chr6:76195003..76197738,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10485375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11753082	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11754482	0.82[ASN][1000 genomes]
rs11754561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11755872	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11756013	0.89[ASN][1000 genomes]
rs1414595	0.96[ASN][1000 genomes]
rs17414086	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17414687	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17414729	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17414757	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17496664	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17497655	0.96[ASN][1000 genomes]
rs17499394	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17499531	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17792195	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1989367	0.89[ASN][1000 genomes]
rs2313589	0.89[ASN][1000 genomes]
rs4311480	0.89[MEX][hapmap];0.90[AMR][1000 genomes]
rs55749651	0.86[ASN][1000 genomes]
rs55839204	0.82[ASN][1000 genomes]
rs55971756	0.96[ASN][1000 genomes]
rs55973299	0.89[ASN][1000 genomes]
rs56228311	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56343691	0.89[ASN][1000 genomes]
rs62414230	0.96[ASN][1000 genomes]
rs62414242	0.89[ASN][1000 genomes]
rs62414244	0.89[ASN][1000 genomes]
rs62415560	0.89[ASN][1000 genomes]
rs62415572	0.82[ASN][1000 genomes]
rs62415578	0.82[ASN][1000 genomes]
rs62415581	0.82[ASN][1000 genomes]
rs62415582	0.82[ASN][1000 genomes]
rs6453833	0.89[ASN][1000 genomes]
rs6453835	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6901064	0.89[ASN][1000 genomes]
rs6904567	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap]
rs6913513	0.89[ASN][1000 genomes]
rs6918285	0.89[ASN][1000 genomes]
rs6930338	0.89[ASN][1000 genomes]
rs715090	0.82[ASN][1000 genomes]
rs72884964	0.89[ASN][1000 genomes]
rs72886846	0.82[ASN][1000 genomes]
rs766244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7738852	0.89[ASN][1000 genomes]
rs7744412	0.89[ASN][1000 genomes]
rs7753896	0.89[ASN][1000 genomes]
rs7775832	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs956653	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS 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
2	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS 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	48 gene(s)	inside rSNPs	diseases
5	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
6	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised 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	47 gene(s)	inside rSNPs	diseases
7	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
8	nsv886182	chr6:76096230-76194007	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1019328	chr6:76154751-76604197	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	nsv538314	chr6:76154751-76604197	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
11	nsv348407	chr6:76192830-76195714	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76183000-76200800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:76187400-76194200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr6:76187800-76196000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:76189600-76201200	Weak transcription	Lung	lung
5	chr6:76190200-76195000	Enhancers	A549	lung
6	chr6:76191200-76194400	Enhancers	HUVEC	blood vessel
7	chr6:76191400-76197000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:76191600-76202200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:76192000-76194200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:76192000-76194200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:76192000-76197000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:76192000-76197600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:76192000-76198000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:76192000-76201400	Weak transcription	GM12878-XiMat	blood
15	chr6:76192200-76197400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:76192400-76197400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:76192600-76197400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:76192800-76194600	Enhancers	Fetal Muscle Leg	muscle
19	chr6:76192800-76195000	Enhancers	Fetal Lung	lung
20	chr6:76192800-76196800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:76193000-76194400	Enhancers	Left Ventricle	heart
22	chr6:76193000-76194600	Enhancers	Psoas Muscle	Psoas
23	chr6:76193000-76194600	Enhancers	Right Ventricle	heart
24	chr6:76193200-76196000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:76193400-76194400	Enhancers	Aorta	Aorta
26	chr6:76193400-76197600	Weak transcription	NHLF	lung
27	chr6:76193400-76197800	Enhancers	Fetal Heart	heart
28	chr6:76193600-76197000	Weak transcription	Adipose Nuclei	Adipose
29	chr6:76193600-76197000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr6:76193600-76197000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:76193800-76194200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr6:76193800-76194400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:76193800-76194600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr6:76193800-76194600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr6:76193800-76194600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:76193800-76195000	Weak transcription	Colon Smooth Muscle	Colon
37	chr6:76193800-76196800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:76194000-76195200	Weak transcription	Right Atrium	heart
39	chr6:76194000-76196000	Weak transcription	Pancreas	Pancrea
40	chr6:76194000-76201000	Weak transcription	HSMMtube	muscle

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