Variant report

Variant	rs12047759
Chromosome Location	chr1:161912016-161912017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161896648..161898427-chr1:161911622..161914345,2	K562	blood:
2	chr1:161910321..161912086-chr1:161917926..161919630,2	K562	blood:
3	chr1:161908780..161912195-chr1:161914395..161917998,3	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16823450	0.93[AFR][1000 genomes]
rs16832939	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16839823	1.00[MEX][hapmap]
rs16840028	1.00[MEX][hapmap]
rs16846658	0.85[AFR][1000 genomes]
rs4517327	0.89[YRI][hapmap]
rs60437935	0.96[AFR][1000 genomes]
rs60717214	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv947136	chr1:161904744-161912405	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161824200-161928400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:161861600-161936000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:161883200-161916000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:161883400-161928200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:161884600-161927600	Weak transcription	NHEK	skin
6	chr1:161884800-161922600	Weak transcription	Brain Anterior Caudate	brain
7	chr1:161885000-161914400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:161885000-161928000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:161885800-161919200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:161887000-161918600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:161887000-161928200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:161887200-161914200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:161887200-161915600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:161887200-161929600	Weak transcription	Hela-S3	cervix
15	chr1:161891000-161912800	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:161891000-161915600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:161891800-161915800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:161896200-161916400	Weak transcription	Fetal Stomach	stomach
19	chr1:161897800-161928400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:161897800-161940000	Weak transcription	Brain Germinal Matrix	brain
21	chr1:161899400-161914400	Weak transcription	Psoas Muscle	Psoas
22	chr1:161899800-161918400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:161900000-161914200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:161900000-161916000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:161900200-161918600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:161900600-161914000	Weak transcription	HUVEC	blood vessel
27	chr1:161900600-161915600	Weak transcription	HSMM	muscle
28	chr1:161900600-161915600	Weak transcription	NHLF	lung
29	chr1:161901400-161935400	Weak transcription	Fetal Lung	lung
30	chr1:161902400-161923000	Weak transcription	Brain Substantia Nigra	brain
31	chr1:161902800-161943400	Weak transcription	Esophagus	oesophagus
32	chr1:161903600-161930400	Weak transcription	Fetal Brain Female	brain
33	chr1:161903800-161914400	Weak transcription	Spleen	Spleen
34	chr1:161903800-161918800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:161903800-161923800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:161904400-161915600	Weak transcription	HSMMtube	muscle
37	chr1:161904400-161923200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:161904800-161956600	Weak transcription	Fetal Brain Male	brain
39	chr1:161905000-161920600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:161905400-161913400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:161905600-161912600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:161906000-161914600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:161906000-161923200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:161906000-161923200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:161906000-161927800	Weak transcription	Thymus	Thymus
46	chr1:161906800-161918000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:161906800-161923200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr1:161906800-161928000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:161906800-161932200	Weak transcription	Stomach Mucosa	stomach
50	chr1:161907000-161919200	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links