Variant report

Variant	rs3769201
Chromosome Location	chr2:173956541-173956542
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	chr2:173955487..173959709-chr2:173960295..173962989,5	K562	blood:
2	chr2:173938430..173941025-chr2:173956491..173960755,5	K562	blood:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10497403	0.84[CHD][hapmap]
rs11687539	0.82[CEU][hapmap]
rs1439977	0.81[CHD][hapmap]
rs1551249	0.88[CHD][hapmap]
rs17710437	0.81[CEU][hapmap]
rs1973037	0.84[CHD][hapmap]
rs2043950	0.82[CEU][hapmap]
rs3754747	0.82[CEU][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap]
rs3769159	0.94[CEU][hapmap]
rs3769162	0.82[CEU][hapmap]
rs3769210	0.83[CHB][hapmap]
rs3769211	0.83[CHB][hapmap]
rs3769213	0.82[CHD][hapmap]
rs3820835	0.82[CEU][hapmap]
rs4972529	0.82[CEU][hapmap]
rs6759847	0.94[CEU][hapmap]
rs722864	0.88[CEU][hapmap];0.80[GIH][hapmap]
rs734993	0.81[CEU][hapmap]
rs746179	0.82[CEU][hapmap]
rs7599340	0.88[CEU][hapmap];0.89[GIH][hapmap]
rs7604288	0.83[ASN][1000 genomes]
rs935006	0.87[CEU][hapmap];0.82[GIH][hapmap]
rs935007	0.82[CEU][hapmap];0.82[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3769201	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173941600-173969600	Weak transcription	Spleen	Spleen
2	chr2:173942800-173964600	Weak transcription	HUVEC	blood vessel
3	chr2:173942800-173971400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:173943000-173971200	Weak transcription	HSMMtube	muscle
5	chr2:173943400-173974200	Weak transcription	Fetal Intestine Large	intestine
6	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:173951400-173957400	Weak transcription	Small Intestine	intestine
8	chr2:173951400-173962000	Weak transcription	Brain Substantia Nigra	brain
9	chr2:173952000-173957600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:173952000-173973400	Weak transcription	Hela-S3	cervix
11	chr2:173952200-173971400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:173952800-173958800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:173953000-173968000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:173953400-173959200	Weak transcription	HepG2	liver
15	chr2:173953800-173991400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:173954600-173957200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:173954600-173958200	Enhancers	Rectal Smooth Muscle	rectum
18	chr2:173954800-173963000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:173955000-173958000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:173955200-173956600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:173955200-173956800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:173955200-173956800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:173955200-173956800	Enhancers	Fetal Muscle Leg	muscle
24	chr2:173955200-173957800	Strong transcription	Dnd41	blood
25	chr2:173955400-173956800	Strong transcription	Fetal Intestine Small	intestine
26	chr2:173955400-173958000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:173955400-173970200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:173955600-173956600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:173955600-173956600	Genic enhancers	NHDF-Ad	bronchial
30	chr2:173955600-173956600	Genic enhancers	Osteobl	bone
31	chr2:173955600-173956800	Enhancers	Colon Smooth Muscle	Colon
32	chr2:173955600-173956800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:173955600-173957000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:173955600-173958400	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr2:173955600-173959600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:173955600-173964800	Weak transcription	Esophagus	oesophagus
37	chr2:173955600-173968600	Weak transcription	Placenta	Placenta
38	chr2:173955600-173971800	Weak transcription	Lung	lung
39	chr2:173955600-173972000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:173955600-173984000	Weak transcription	Gastric	stomach
41	chr2:173955800-173956600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:173955800-173956600	Strong transcription	NHEK	skin
43	chr2:173955800-173957200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:173955800-173957200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:173955800-173958000	Genic enhancers	A549	lung
46	chr2:173955800-173958200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:173955800-173958200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr2:173955800-173977200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:173956000-173956600	Strong transcription	Fetal Thymus	thymus
50	chr2:173956000-173956600	Transcr. at gene 5' and 3'	K562	blood

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