Variant report

Variant	rs2812709
Chromosome Location	chr6:80377897-80377898
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80375563..80378458-chr6:80382282..80385126,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2812704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2812710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80360000-80378000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:80365400-80378000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:80366200-80384000	Weak transcription	Brain Germinal Matrix	brain
4	chr6:80366400-80380600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:80372600-80378800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr6:80372600-80382600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr6:80373400-80412400	Weak transcription	Fetal Brain Male	brain
8	chr6:80373800-80378000	Weak transcription	Esophagus	oesophagus
9	chr6:80374000-80378000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:80374000-80379800	Weak transcription	Colonic Mucosa	Colon
11	chr6:80374000-80381200	Weak transcription	Brain Anterior Caudate	brain
12	chr6:80374000-80381600	Weak transcription	Fetal Brain Female	brain
13	chr6:80374400-80380600	Weak transcription	K562	blood
14	chr6:80374400-80381400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:80374400-80381400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:80374400-80381400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:80374400-80383600	Weak transcription	Right Ventricle	heart
18	chr6:80374400-80386800	Weak transcription	Right Atrium	heart
19	chr6:80375600-80378400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr6:80375600-80378400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr6:80375600-80378800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr6:80375800-80378800	Enhancers	Stomach Mucosa	stomach
23	chr6:80375800-80383600	Weak transcription	Fetal Kidney	kidney
24	chr6:80376000-80379600	Weak transcription	HUVEC	blood vessel
25	chr6:80376000-80381400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:80376000-80385000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:80376200-80378000	Weak transcription	Left Ventricle	heart
28	chr6:80376200-80378000	Weak transcription	Lung	lung
29	chr6:80376200-80378200	Weak transcription	Fetal Lung	lung
30	chr6:80376200-80380600	Weak transcription	Gastric	stomach
31	chr6:80376200-80380600	Weak transcription	Pancreas	Pancrea
32	chr6:80376200-80380600	Weak transcription	Psoas Muscle	Psoas
33	chr6:80376200-80380600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:80376200-80380800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr6:80376200-80381200	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:80376200-80381400	Weak transcription	HSMM	muscle
37	chr6:80376200-80384200	Weak transcription	Brain Angular Gyrus	brain
38	chr6:80376400-80378000	Weak transcription	Fetal Intestine Large	intestine
39	chr6:80376400-80381000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr6:80376400-80381400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr6:80376400-80396200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:80376400-80402000	Weak transcription	Brain Substantia Nigra	brain
43	chr6:80376600-80379800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr6:80376600-80383200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:80376800-80378400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:80377000-80378000	Weak transcription	HepG2	liver
47	chr6:80377000-80378600	Enhancers	Adipose Nuclei	Adipose
48	chr6:80377000-80385800	Weak transcription	Fetal Muscle Leg	muscle
49	chr6:80377200-80378200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr6:80377200-80379400	Weak transcription	Fetal Stomach	stomach

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