Variant report

Variant	rs6677523
Chromosome Location	chr1:92202467-92202468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92198152..92200213-chr1:92201193..92206399,7	K562	blood:
2	chr1:92197202..92203288-chr1:92206365..92210533,5	K562	blood:
3	chr1:92196960..92199922-chr1:92201744..92205146,4	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10874915	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11466579	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11579207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582136	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11582616	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12403389	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs13374915	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131544	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306886	0.86[JPT][hapmap]
rs55996125	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs923377	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92191800-92204000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:92197000-92215200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:92197200-92202600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:92197200-92215400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:92197600-92203000	Enhancers	Fetal Intestine Small	intestine
6	chr1:92197600-92203400	Enhancers	Fetal Intestine Large	intestine
7	chr1:92197600-92230000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:92197800-92211000	Weak transcription	Colonic Mucosa	Colon
9	chr1:92198000-92210400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:92198200-92202600	Weak transcription	Brain Angular Gyrus	brain
11	chr1:92198200-92206600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:92198200-92224400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:92198400-92202600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:92198400-92202600	Weak transcription	Pancreas	Pancrea
15	chr1:92198400-92202600	Weak transcription	Right Atrium	heart
16	chr1:92198400-92202800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:92198400-92207000	Weak transcription	Gastric	stomach
18	chr1:92198400-92207400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:92198400-92210400	Weak transcription	HUVEC	blood vessel
20	chr1:92198600-92204400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:92198600-92207600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:92198800-92203800	Enhancers	Fetal Kidney	kidney
23	chr1:92199000-92203200	Genic enhancers	K562	blood
24	chr1:92199000-92206200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:92199200-92218600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:92199400-92219000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:92199600-92204200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:92200200-92202800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:92200400-92203200	Enhancers	Liver	Liver
30	chr1:92200600-92202600	Enhancers	Rectal Smooth Muscle	rectum
31	chr1:92200600-92205000	Genic enhancers	HepG2	liver
32	chr1:92200800-92203000	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr1:92200800-92203400	Enhancers	Fetal Lung	lung
34	chr1:92201000-92205200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:92201000-92208600	Weak transcription	Small Intestine	intestine
36	chr1:92201200-92202600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:92201200-92203400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:92201200-92203400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr1:92201200-92219000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:92201400-92202600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:92201400-92202800	Enhancers	Fetal Stomach	stomach
42	chr1:92201400-92203400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:92201400-92217600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:92201800-92203200	Enhancers	Psoas Muscle	Psoas
45	chr1:92201800-92203200	Flanking Active TSS	Hela-S3	cervix
46	chr1:92201800-92203400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:92201800-92203400	Enhancers	Left Ventricle	heart
48	chr1:92201800-92203400	Enhancers	Lung	lung
49	chr1:92202000-92202600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:92202000-92202800	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links