Variant report

Variant	rs7775422
Chromosome Location	chr6:166965756-166965757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166964236..166966556-chr6:166978667..166980857,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16899098	1.00[TSI][hapmap]
rs3778395	0.92[LWK][hapmap];0.83[AFR][1000 genomes]
rs55731457	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55830943	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56129294	0.85[AFR][1000 genomes]
rs57559140	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58837225	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73788047	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7738206	1.00[MEX][hapmap]
rs7743191	1.00[MEX][hapmap]
rs7744326	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886941	chr6:166907173-166996991	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv5592	chr6:166958317-167002951	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7775422	T	cis	lymphoblastoid	seeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166935400-166966400	Weak transcription	NH-A	brain
2	chr6:166947400-166969400	Weak transcription	Aorta	Aorta
3	chr6:166952400-166969000	Weak transcription	Psoas Muscle	Psoas
4	chr6:166953400-166967400	Weak transcription	Fetal Lung	lung
5	chr6:166955000-166967000	Weak transcription	Brain Substantia Nigra	brain
6	chr6:166955200-166970600	Weak transcription	Pancreas	Pancrea
7	chr6:166955200-166970600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:166956000-166966400	Weak transcription	Adipose Nuclei	Adipose
9	chr6:166956000-166966600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:166956000-166967800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:166956000-166969000	Weak transcription	Gastric	stomach
12	chr6:166956200-166967400	Weak transcription	Ovary	ovary
13	chr6:166956400-166966400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:166956600-166966400	Weak transcription	HMEC	breast
15	chr6:166956800-166966200	Weak transcription	HSMM	muscle
16	chr6:166956800-166966600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:166957000-166967200	Weak transcription	HUVEC	blood vessel
18	chr6:166957000-166967400	Weak transcription	Right Atrium	heart
19	chr6:166957200-166968000	Weak transcription	Spleen	Spleen
20	chr6:166957600-166966000	Weak transcription	Fetal Stomach	stomach
21	chr6:166957800-166968800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:166959600-166965800	Weak transcription	NHDF-Ad	bronchial
23	chr6:166960000-166972800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr6:166960400-166966400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:166961200-166966400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:166961200-166970400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:166962800-166966000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:166963400-166965800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:166963400-166966200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:166963400-166966400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:166963400-166968600	Weak transcription	Esophagus	oesophagus
32	chr6:166963800-166966000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:166964200-166966200	Weak transcription	Lung	lung
34	chr6:166964200-166966200	Weak transcription	Osteobl	bone
35	chr6:166964200-166967400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:166964600-166966000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr6:166964600-166966400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr6:166964800-166965800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:166964800-166966000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:166964800-166966400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:166964800-166966400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr6:166964800-166966600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:166964800-166966800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr6:166964800-166968600	Enhancers	Brain Germinal Matrix	brain
45	chr6:166964800-166972000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr6:166965000-166966000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:166965000-166966200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:166965000-166966200	Weak transcription	Brain Hippocampus Middle	brain
49	chr6:166965000-166966400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:166965000-166966400	Weak transcription	NHLF	lung

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