Variant report

Variant	rs1265331
Chromosome Location	chr6:4803543-4803544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4774443..4775951-chr6:4803509..4806203,2	MCF-7	breast:
2	chr6:4794303..4796795-chr6:4800543..4803644,3	MCF-7	breast:
3	chr6:4777710..4780092-chr6:4801744..4804702,2	K562	blood:
4	chr6:4645018..4646864-chr6:4803237..4804893,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236336	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1022497	0.84[AFR][1000 genomes]
rs1022498	0.84[AFR][1000 genomes]
rs11967447	0.81[AFR][1000 genomes]
rs11967765	0.86[AFR][1000 genomes]
rs11967801	0.86[AFR][1000 genomes]
rs11967926	0.81[AFR][1000 genomes]
rs11968053	0.81[AFR][1000 genomes]
rs1265329	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs233475	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2875969	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4367417	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs56740053	0.88[AFR][1000 genomes]
rs57143473	0.88[AFR][1000 genomes]
rs57484544	0.88[AFR][1000 genomes]
rs57890105	0.81[AFR][1000 genomes]
rs59852455	0.88[AFR][1000 genomes]
rs60632423	0.81[AFR][1000 genomes]
rs6911106	0.81[AFR][1000 genomes]
rs6922314	0.88[AFR][1000 genomes]
rs6936040	0.86[AFR][1000 genomes]
rs6939986	0.81[AFR][1000 genomes]
rs7744408	0.84[AFR][1000 genomes]
rs7747385	0.88[AFR][1000 genomes]
rs7748721	0.84[AFR][1000 genomes]
rs7762268	0.84[AFR][1000 genomes]
rs7764676	0.81[AFR][1000 genomes]
rs7764795	0.81[AFR][1000 genomes]
rs7765321	0.81[AFR][1000 genomes]
rs808619	1.00[YRI][hapmap]
rs808623	1.00[YRI][hapmap]
rs808624	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1015888	chr6:4787784-4883663	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4787400-4808800	Weak transcription	Aorta	Aorta
2	chr6:4794800-4803600	Weak transcription	Esophagus	oesophagus
3	chr6:4794800-4804400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:4794800-4818800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:4795000-4806200	Weak transcription	Gastric	stomach
6	chr6:4795200-4803800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:4795200-4806600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:4798200-4803600	Weak transcription	Hela-S3	cervix
9	chr6:4798200-4803600	Weak transcription	NHLF	lung
10	chr6:4800000-4810400	Weak transcription	Fetal Intestine Small	intestine
11	chr6:4800800-4804000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr6:4801000-4803800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr6:4801000-4805000	Enhancers	Primary B cells from peripheral blood	blood
14	chr6:4801000-4805600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:4801200-4803600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:4801200-4804000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:4801600-4804800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr6:4801800-4803600	Enhancers	Primary T cells from cord blood	blood
19	chr6:4801800-4804000	Enhancers	Liver	Liver
20	chr6:4801800-4804000	Enhancers	Fetal Thymus	thymus
21	chr6:4801800-4804600	Enhancers	Primary T cells fromperipheralblood	blood
22	chr6:4801800-4805000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:4801800-4805200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:4801800-4805200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:4801800-4805200	Enhancers	Psoas Muscle	Psoas
26	chr6:4801800-4811600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr6:4802000-4803600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:4802000-4803800	Enhancers	Adipose Nuclei	Adipose
29	chr6:4802000-4805000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:4802200-4803800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr6:4802200-4804400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:4802200-4804800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr6:4802200-4811200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:4802400-4803600	Weak transcription	A549	lung
35	chr6:4802400-4803800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:4802400-4804200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:4802400-4804400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:4802400-4804600	Enhancers	K562	blood
39	chr6:4802400-4805000	Enhancers	Right Atrium	heart
40	chr6:4802400-4805200	Enhancers	Lung	lung
41	chr6:4802400-4806200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:4802400-4807000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr6:4802400-4807400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr6:4802400-4810400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:4802400-4812000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr6:4802400-4818800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:4802600-4804000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:4802600-4805000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:4802600-4805000	Enhancers	Right Ventricle	heart
50	chr6:4802800-4803600	Flanking Active TSS	Primary B cells from cord blood	blood

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