Variant report

Variant	rs2746314
Chromosome Location	chr6:80374293-80374294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1009742	0.85[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1883878	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2235880	0.85[CEU][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2473826	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2746316	0.88[EUR][1000 genomes]
rs2746317	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2812703	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2812708	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2812712	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2812713	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6927296	0.86[JPT][hapmap]
rs980225	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80358400-80377800	Weak transcription	Spleen	Spleen
2	chr6:80359600-80376000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:80360000-80377800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:80360000-80378000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:80365400-80378000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:80366200-80384000	Weak transcription	Brain Germinal Matrix	brain
7	chr6:80366400-80380600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:80372600-80374400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr6:80372600-80374600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr6:80372600-80374600	Enhancers	Stomach Mucosa	stomach
11	chr6:80372600-80378800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr6:80372600-80382600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr6:80372800-80374400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr6:80372800-80374400	Enhancers	K562	blood
15	chr6:80373000-80374400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:80373000-80374400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr6:80373000-80374400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr6:80373000-80374400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr6:80373000-80374800	Strong transcription	Fetal Intestine Small	intestine
20	chr6:80373200-80374400	Enhancers	Lung	lung
21	chr6:80373200-80374400	Enhancers	Pancreas	Pancrea
22	chr6:80373400-80412400	Weak transcription	Fetal Brain Male	brain
23	chr6:80373600-80374400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:80373600-80374400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:80373600-80374400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:80373600-80374400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:80373600-80374400	Enhancers	Gastric	stomach
28	chr6:80373600-80374400	Enhancers	Right Ventricle	heart
29	chr6:80373600-80374600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr6:80373800-80374400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:80373800-80374400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr6:80373800-80374400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr6:80373800-80374400	Strong transcription	Fetal Intestine Large	intestine
34	chr6:80373800-80375600	Weak transcription	Primary T cells from cord blood	blood
35	chr6:80373800-80375800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:80373800-80377800	Weak transcription	Small Intestine	intestine
37	chr6:80373800-80378000	Weak transcription	Esophagus	oesophagus
38	chr6:80374000-80374400	Enhancers	Brain Substantia Nigra	brain
39	chr6:80374000-80375400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr6:80374000-80375600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr6:80374000-80375600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:80374000-80375600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:80374000-80375600	Weak transcription	Left Ventricle	heart
44	chr6:80374000-80375800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr6:80374000-80375800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr6:80374000-80378000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:80374000-80379800	Weak transcription	Colonic Mucosa	Colon
48	chr6:80374000-80381200	Weak transcription	Brain Anterior Caudate	brain
49	chr6:80374000-80381600	Weak transcription	Fetal Brain Female	brain
50	chr6:80374200-80374400	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links