Variant report

Variant	rs7763069
Chromosome Location	chr6:1724791-1724792
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:1724262..1726680-chr6:1728353..1730358,2	K562	blood:
2	chr6:1610217..1612226-chr6:1723387..1726071,3	MCF-7	breast:
3	chr6:1687393..1689735-chr6:1723369..1725669,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054598	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs3800030	0.83[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs3823261	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs6906968	0.92[CEU][hapmap];0.91[CHB][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6930768	0.87[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7746815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9378310	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9392326	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs960295	0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024111	chr6:1231850-1730146	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1021924	chr6:1254891-1736995	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv538082	chr6:1254891-1736995	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
5	nsv491607	chr6:1580681-1951526	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv530888	chr6:1605768-1739933	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv432843	chr6:1694719-1725261	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020603	chr6:1697548-1921374	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv538093	chr6:1697548-1921374	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1695400-1729400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:1695800-1731400	Weak transcription	Fetal Intestine Large	intestine
3	chr6:1701200-1749400	Weak transcription	Colonic Mucosa	Colon
4	chr6:1704200-1725200	Weak transcription	Primary B cells from cord blood	blood
5	chr6:1706800-1726800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:1713400-1724800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:1713400-1726000	Weak transcription	Dnd41	blood
8	chr6:1716000-1749200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:1716400-1724800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:1716600-1728200	Weak transcription	Liver	Liver
11	chr6:1717000-1726200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:1717600-1731600	Weak transcription	Aorta	Aorta
13	chr6:1718800-1724800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:1718800-1724800	Weak transcription	Pancreas	Pancrea
15	chr6:1718800-1731400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:1719800-1725800	Weak transcription	Fetal Intestine Small	intestine
17	chr6:1721200-1731600	Weak transcription	Right Atrium	heart
18	chr6:1721200-1746200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:1721200-1748800	Weak transcription	Osteobl	bone
20	chr6:1721400-1724800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:1721400-1730600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:1721400-1739400	Weak transcription	Hela-S3	cervix
23	chr6:1721600-1726600	Weak transcription	Brain Substantia Nigra	brain
24	chr6:1721800-1728600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:1722000-1729400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:1722200-1725400	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:1722200-1727800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:1722400-1724800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr6:1722800-1725600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr6:1723000-1727600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr6:1723000-1743200	Strong transcription	HepG2	liver
32	chr6:1723800-1725200	Enhancers	Placenta	Placenta
33	chr6:1723800-1725200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr6:1723800-1726800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:1724000-1725400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr6:1724000-1725400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:1724000-1725600	Enhancers	HMEC	breast
38	chr6:1724000-1725800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:1724000-1726800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr6:1724000-1728000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:1724200-1724800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr6:1724200-1724800	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr6:1724200-1725000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr6:1724200-1725400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:1724200-1725400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:1724200-1725400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr6:1724200-1725400	Enhancers	Fetal Lung	lung
48	chr6:1724200-1725600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr6:1724200-1725600	Enhancers	Fetal Kidney	kidney
50	chr6:1724200-1725600	Enhancers	NHEK	skin

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