Variant report

Variant	rs4713871
Chromosome Location	chr6:35439073-35439074
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	chr6:35419539..35422466-chr6:35438622..35441201,2	MCF-7	breast:
2	chr20:46247769..46250041-chr6:35436696..35439352,2	MCF-7	breast:
3	chr6:35308405..35313609-chr6:35434054..35440248,12	K562	blood:
4	chr6:35260730..35269335-chr6:35433870..35444063,22	MCF-7	breast:
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	chr6:35261657..35264844-chr6:35438190..35440165,4	MCF-7	breast:
10	chr6:35438538..35440763-chr6:35753826..35756739,2	K562	blood:
11	chr6:35263451..35267137-chr6:35438747..35441852,5	K562	blood:
12	chr6:35438691..35440741-chr6:35704071..35706760,2	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
ENSG00000112039	Chromatin interaction
ENSG00000232909	Chromatin interaction
ENSG00000204140	Chromatin interaction
ENSG00000112033	Chromatin interaction
ENSG00000157343	Chromatin interaction
ENSG00000023892	Chromatin interaction
ENSG00000065029	Chromatin interaction

Extended variants
information (count: 29 )
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]
rs2076171	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]
rs2092427	0.80[JPT][hapmap]
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]
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]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:126 , 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	chr6:35435800-35439200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:35435800-35439200	Transcr. at gene 5' and 3'	NHLF	lung
4	chr6:35436200-35440400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:35436200-35440600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:35436400-35439200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
7	chr6:35436400-35439200	Transcr. at gene 5' and 3'	A549	lung
8	chr6:35436400-35439200	Transcr. at gene 5' and 3'	Dnd41	blood
9	chr6:35436400-35439200	Transcr. at gene 5' and 3'	Osteobl	bone
10	chr6:35436400-35439400	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
11	chr6:35436400-35439400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
12	chr6:35436400-35439400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
13	chr6:35436400-35440200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:35436400-35440200	Transcr. at gene 5' and 3'	NHEK	skin
15	chr6:35436400-35440600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
16	chr6:35436600-35439200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
17	chr6:35436600-35439200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:35436600-35439600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
19	chr6:35436600-35439800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
20	chr6:35436800-35439200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
21	chr6:35436800-35439200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:35436800-35439200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:35437000-35439200	Transcr. at gene 5' and 3'	NH-A	brain
24	chr6:35437000-35439800	Transcr. at gene 5' and 3'	Hela-S3	cervix
25	chr6:35437000-35440800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
26	chr6:35437200-35439200	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
27	chr6:35437200-35439200	Transcr. at gene 5' and 3'	HMEC	breast
28	chr6:35437200-35440400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
29	chr6:35437200-35440400	Transcr. at gene 5' and 3'	K562	blood
30	chr6:35437200-35440600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:35437400-35439200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:35437400-35439200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
33	chr6:35437400-35439200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
34	chr6:35437400-35439400	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:35437400-35440000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:35437600-35439200	Genic enhancers	Spleen	Spleen
37	chr6:35437600-35449200	Strong transcription	Aorta	Aorta
38	chr6:35437800-35439200	Genic enhancers	Primary B cells from peripheral blood	blood
39	chr6:35437800-35439600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:35437800-35440000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:35437800-35440400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
42	chr6:35437800-35443800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:35437800-35446200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr6:35437800-35451000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr6:35438000-35439200	Genic enhancers	Colon Smooth Muscle	Colon
46	chr6:35438000-35439200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
47	chr6:35438000-35439200	Genic enhancers	Rectal Mucosa Donor 31	rectum
48	chr6:35438000-35439200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
49	chr6:35438000-35439600	Strong transcription	Brain Anterior Caudate	brain
50	chr6:35438000-35440200	Genic enhancers	Primary T cells fromperipheralblood	blood

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