Variant report

Variant	rs1265336
Chromosome Location	chr6:4790727-4790728
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4774936..4777199-chr6:4788444..4791160,3	MCF-7	breast:
2	chr6:4789235..4792155-chr6:4793481..4795463,2	MCF-7	breast:
3	chr6:4775712..4777921-chr6:4789550..4792037,2	K562	blood:
4	chr6:4778081..4781516-chr6:4787216..4791667,5	MCF-7	breast:
5	chr6:4785155..4787889-chr6:4789535..4792390,3	MCF-7	breast:
6	chr6:4788250..4792483-chr6:4794003..4797255,3	MCF-7	breast:
7	chr6:4781609..4783179-chr6:4790419..4792319,2	K562	blood:

Variant related genes	Relation type
ENSG00000153046	Chromatin interaction
ENSG00000236336	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1883327	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs233477	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs233479	0.87[CEU][hapmap];0.83[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs55653939	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6925763	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73364556	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7747591	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs808615	0.94[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs808622	0.87[ASW][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.90[MEX][hapmap];0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv3429586	chr6:4719363-4792438	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4781400-4794000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:4781400-4794400	Weak transcription	NHLF	lung
3	chr6:4781600-4797800	Weak transcription	Hela-S3	cervix
4	chr6:4781800-4794200	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:4782000-4794400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:4782000-4797800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:4782600-4791400	Weak transcription	Fetal Heart	heart
8	chr6:4783000-4791400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr6:4785400-4794400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:4786000-4790800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:4786200-4792000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr6:4786600-4793400	Weak transcription	A549	lung
13	chr6:4787200-4790800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr6:4787200-4791400	Weak transcription	Thymus	Thymus
15	chr6:4787200-4794400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:4787400-4791400	Weak transcription	HepG2	liver
17	chr6:4787400-4793200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:4787400-4794000	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:4787400-4808800	Weak transcription	Aorta	Aorta
20	chr6:4787600-4794400	Weak transcription	NHEK	skin
21	chr6:4788800-4790800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:4788800-4791000	Enhancers	Primary B cells from peripheral blood	blood
23	chr6:4788800-4791000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr6:4788800-4791000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:4788800-4792000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr6:4789000-4790800	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr6:4789000-4791000	Enhancers	Primary B cells from cord blood	blood
28	chr6:4789000-4791000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr6:4789000-4791600	Enhancers	K562	blood
30	chr6:4789000-4791800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:4789000-4792000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr6:4789200-4790800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:4789200-4790800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr6:4789200-4791000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:4789400-4791000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr6:4789400-4792000	Enhancers	Adipose Nuclei	Adipose
37	chr6:4789400-4794200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:4789600-4790800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr6:4789600-4792000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr6:4789800-4790800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr6:4789800-4792000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:4789800-4793400	Weak transcription	Right Atrium	heart
43	chr6:4789800-4794400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:4789800-4794400	Weak transcription	Esophagus	oesophagus
45	chr6:4790000-4790800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:4790000-4790800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:4790000-4792000	Enhancers	Fetal Lung	lung
48	chr6:4790000-4792800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:4790000-4793400	Weak transcription	Left Ventricle	heart
50	chr6:4790000-4794000	Weak transcription	Spleen	Spleen

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