Variant report

Variant	rs2922804
Chromosome Location	chr8:6359024-6359025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6357189..6359349-chr8:6362649..6365411,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11776519	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs11779674	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11779676	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13281117	0.91[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap]
rs17077317	0.83[CEU][hapmap];0.81[JPT][hapmap]
rs1870	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1975616	0.91[ASW][hapmap];0.91[CEU][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2167071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2242005	0.93[YRI][hapmap]
rs2408342	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2442631	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs2442632	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs2442633	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs2442634	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs2442635	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs2442636	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs2515435	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs2916702	0.94[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2916715	0.87[CEU][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2916716	0.83[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2916725	0.91[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap]
rs2916735	0.83[CEU][hapmap]
rs2916736	0.95[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2916755	0.96[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs2916756	0.82[CEU][hapmap]
rs2922805	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2922895	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2922905	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs2922906	0.96[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs2922907	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs2959790	0.91[CEU][hapmap];0.81[CHB][hapmap]
rs2959791	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2959793	0.92[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2959794	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2979671	0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap]
rs2979673	0.83[CEU][hapmap]
rs3020210	0.83[CEU][hapmap]
rs3020212	0.95[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes]
rs3020213	0.95[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap]
rs3020214	0.91[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.84[MEX][hapmap]
rs3020216	0.85[JPT][hapmap]
rs3020219	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs3020221	0.91[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap]
rs34744896	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3958765	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv890057	chr8:6317165-6427868	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1025860	chr8:6328628-6360743	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv890058	chr8:6329510-6367302	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv1022895	chr8:6355213-6414874	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv933260	chr8:6357124-6410013	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6304400-6360200	Weak transcription	Esophagus	oesophagus
2	chr8:6308000-6372600	Weak transcription	HMEC	breast
3	chr8:6317800-6380200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:6325800-6374400	Weak transcription	K562	blood
5	chr8:6336800-6377600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:6338800-6360400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:6338800-6360600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:6338800-6369600	Weak transcription	Spleen	Spleen
9	chr8:6338800-6389600	Weak transcription	HSMMtube	muscle
10	chr8:6339800-6360400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:6340000-6360400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:6340400-6371600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:6340800-6360200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:6340800-6360400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:6340800-6371800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:6341000-6360200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:6341000-6360600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:6341000-6372000	Weak transcription	A549	lung
19	chr8:6341000-6375000	Weak transcription	Brain Angular Gyrus	brain
20	chr8:6341200-6360400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:6341200-6360400	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:6341200-6360800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:6341200-6369400	Weak transcription	Primary B cells from cord blood	blood
24	chr8:6341200-6371200	Weak transcription	Fetal Brain Female	brain
25	chr8:6341400-6363600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:6341800-6360600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:6342000-6360400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr8:6342400-6359200	Weak transcription	Left Ventricle	heart
29	chr8:6342400-6360200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:6342400-6360200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr8:6342400-6360200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:6342400-6360200	Weak transcription	Fetal Stomach	stomach
33	chr8:6342400-6360200	Weak transcription	Pancreas	Pancrea
34	chr8:6342400-6360400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:6342400-6360400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:6342400-6360400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:6342400-6360400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:6342400-6360400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:6342400-6360600	Weak transcription	Lung	lung
40	chr8:6342400-6365600	Weak transcription	Psoas Muscle	Psoas
41	chr8:6342400-6369600	Weak transcription	NHEK	skin
42	chr8:6342400-6421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:6342600-6360200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:6342800-6360800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:6343400-6360400	Weak transcription	Thymus	Thymus
46	chr8:6344400-6360200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:6344600-6360200	Weak transcription	Adipose Nuclei	Adipose
48	chr8:6345200-6360400	Weak transcription	Fetal Intestine Large	intestine
49	chr8:6345600-6360000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:6345800-6360400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links