Variant report

Variant	rs794783
Chromosome Location	chr6:15302172-15302173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15300692..15302915-chr6:15309585..15311589,2	MCF-7	breast:
2	chr6:15210366..15212939-chr6:15300598..15303177,2	K562	blood:
3	chr6:15264447..15266600-chr6:15301287..15304010,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs2282823	1.00[JPT][hapmap]
rs2299055	1.00[JPT][hapmap]
rs3857641	0.82[YRI][hapmap]
rs3915734	0.81[JPT][hapmap]
rs56156626	0.96[AFR][1000 genomes]
rs58053975	0.96[AFR][1000 genomes]
rs707828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs707829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs707830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs707831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs707835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs707836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs707838	0.81[CHB][hapmap]
rs707839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73361549	0.94[AFR][1000 genomes]
rs73361569	0.96[AFR][1000 genomes]
rs794775	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794776	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs794777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794779	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794784	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794786	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs794788	0.81[CHB][hapmap]
rs794789	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs794792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794793	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs794795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs794797	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9383048	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15290600-15309400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:15292000-15303600	Weak transcription	Ovary	ovary
3	chr6:15293000-15302800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:15294000-15303400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:15294200-15302200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr6:15294400-15303600	Weak transcription	Brain Germinal Matrix	brain
7	chr6:15295000-15303400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:15295000-15305600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:15295800-15311400	Enhancers	Primary hematopoietic stem cells	blood
10	chr6:15296000-15302200	Enhancers	Primary B cells from cord blood	blood
11	chr6:15296000-15302400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:15296000-15302800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:15296600-15303400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:15296600-15305200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:15297800-15302400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:15298000-15302400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:15298200-15302400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:15298400-15302200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:15298400-15302200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr6:15299200-15302200	Flanking Active TSS	GM12878-XiMat	blood
21	chr6:15300000-15303400	Weak transcription	Pancreas	Pancrea
22	chr6:15300000-15303600	Weak transcription	Esophagus	oesophagus
23	chr6:15300200-15303000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:15300200-15303400	Weak transcription	Lung	lung
25	chr6:15300200-15303600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:15300200-15305000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:15300200-15308400	Weak transcription	A549	lung
28	chr6:15300200-15312400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:15300400-15303600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:15300400-15304200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:15300400-15305000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:15300400-15308000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr6:15300400-15312600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:15300600-15303400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr6:15300600-15303400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:15300600-15303400	Weak transcription	Brain Anterior Caudate	brain
37	chr6:15300600-15303600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr6:15300600-15304200	Weak transcription	Colonic Mucosa	Colon
39	chr6:15300600-15305000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:15300800-15303200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:15300800-15303400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:15300800-15303400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:15300800-15303400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:15300800-15303400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:15300800-15303400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr6:15300800-15303400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr6:15300800-15303400	Weak transcription	Brain Substantia Nigra	brain
48	chr6:15300800-15303400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr6:15300800-15303400	Weak transcription	Fetal Intestine Small	intestine
50	chr6:15300800-15303400	Weak transcription	Gastric	stomach

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