Variant report

Variant	rs2076171
Chromosome Location	chr6:35438558-35438559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:46247769..46250041-chr6:35436696..35439352,2	MCF-7	breast:
2	chr6:35308405..35313609-chr6:35434054..35440248,12	K562	blood:
3	chr6:35260730..35269335-chr6:35433870..35444063,22	MCF-7	breast:
4	chr6:35434857..35438603-chr6:35692996..35696802,4	K562	blood:
5	chr6:35253934..35256378-chr6:35438296..35440191,2	K562	blood:
6	chr6:35270811..35278072-chr6:35434777..35439344,8	MCF-7	breast:
7	chr6:35308378..35313609-chr6:35433550..35439145,12	K562	blood:
8	chr6:35334952..35336985-chr6:35437820..35439683,2	MCF-7	breast:
9	chr6:35309215..35314259-chr6:35432456..35439068,10	MCF-7	breast:
10	chr6:35261657..35264844-chr6:35438190..35440165,4	MCF-7	breast:
11	chr6:35438538..35440763-chr6:35753826..35756739,2	K562	blood:
12	chr6:35257372..35267692-chr6:35433856..35438688,25	K562	blood:
13	chr6:35415818..35424678-chr6:35432486..35440672,36	K562	blood:
14	chr6:35257372..35267871-chr6:35433266..35439192,25	K562	blood:

No data

Variant related genes	Relation type
ENSG00000065029	Chromatin interaction
ENSG00000096060	Chromatin interaction
ENSG00000112033	Chromatin interaction
ENSG00000204140	Chromatin interaction
ENSG00000112039	Chromatin interaction
ENSG00000023892	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1076655	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11756089	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11758353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072887	0.84[ASN][1000 genomes]
rs2273002	0.90[JPT][hapmap]
rs3800379	0.84[ASN][1000 genomes]
rs41270066	0.97[ASN][1000 genomes]
rs41270070	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45454199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45464000	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45472598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45624039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713863	0.84[ASN][1000 genomes]
rs4713866	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4713870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713872	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4713880	0.90[JPT][hapmap]
rs4713901	0.86[JPT][hapmap]
rs6935950	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs9658118	1.00[TSI][hapmap]

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	nsv830641	chr6:35282534-35440603	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
2	nsv528351	chr6:35377922-35465786	Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
3	nsv885799	chr6:35378778-35442397	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
4	nsv462908	chr6:35378778-35457396	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv602910	chr6:35378778-35457396	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
6	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
7	nsv984463	chr6:35432948-35477634	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	67 gene(s)	inside rSNPs	diseases
8	nsv965717	chr6:35437464-35438661	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35435200-35440200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:35435600-35438800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:35435800-35439200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:35435800-35439200	Transcr. at gene 5' and 3'	NHLF	lung
5	chr6:35436200-35440400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:35436200-35440600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:35436400-35439200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
8	chr6:35436400-35439200	Transcr. at gene 5' and 3'	A549	lung
9	chr6:35436400-35439200	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr6:35436400-35439200	Transcr. at gene 5' and 3'	Osteobl	bone
11	chr6:35436400-35439400	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
12	chr6:35436400-35439400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
13	chr6:35436400-35439400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
14	chr6:35436400-35440200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:35436400-35440200	Transcr. at gene 5' and 3'	NHEK	skin
16	chr6:35436400-35440600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
17	chr6:35436600-35438800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
18	chr6:35436600-35438800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:35436600-35438800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:35436600-35438800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:35436600-35439200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
22	chr6:35436600-35439200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:35436600-35439600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
24	chr6:35436600-35439800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
25	chr6:35436800-35439200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
26	chr6:35436800-35439200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:35436800-35439200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:35437000-35439200	Transcr. at gene 5' and 3'	NH-A	brain
29	chr6:35437000-35439800	Transcr. at gene 5' and 3'	Hela-S3	cervix
30	chr6:35437000-35440800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
31	chr6:35437200-35439200	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
32	chr6:35437200-35439200	Transcr. at gene 5' and 3'	HMEC	breast
33	chr6:35437200-35440400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
34	chr6:35437200-35440400	Transcr. at gene 5' and 3'	K562	blood
35	chr6:35437200-35440600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:35437400-35438600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:35437400-35438800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:35437400-35438800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
39	chr6:35437400-35439000	Transcr. at gene 5' and 3'	HSMM	muscle
40	chr6:35437400-35439200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:35437400-35439200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
42	chr6:35437400-35439200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
43	chr6:35437400-35439400	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:35437400-35440000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:35437600-35438800	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
46	chr6:35437600-35438800	Transcr. at gene 5' and 3'	HSMMtube	muscle
47	chr6:35437600-35439000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:35437600-35439000	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
49	chr6:35437600-35439200	Genic enhancers	Spleen	Spleen
50	chr6:35437600-35449200	Strong transcription	Aorta	Aorta

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