Variant report

Variant	rs62176035
Chromosome Location	chr2:178986459-178986460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178986165..178987742-chr2:178994216..178996447,2	K562	blood:
2	chr2:178985399..178987987-chr2:179314612..179317404,2	MCF-7	breast:
3	chr2:178986068..178988538-chr2:178997888..179000584,2	K562	blood:

Variant related genes	Relation type
ENSG00000204311	Chromatin interaction
ENSG00000180228	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12613853	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12617847	0.91[ASN][1000 genomes]
rs12619532	0.90[ASN][1000 genomes]
rs13005772	0.94[ASN][1000 genomes]
rs1435572	0.88[ASN][1000 genomes]
rs16866111	0.88[AFR][1000 genomes]
rs16866116	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16866118	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276622	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2366366	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6705312	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6753254	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7564892	0.88[AFR][1000 genomes];0.98[ASN][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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583739	chr2:178942302-178993562	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv518790	chr2:178963445-179000291	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178978000-178986600	Weak transcription	Left Ventricle	heart
2	chr2:178978000-178989200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:178978000-178996600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:178978000-178996600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:178978000-179001000	Weak transcription	Lung	lung
6	chr2:178978000-179002200	Weak transcription	Esophagus	oesophagus
7	chr2:178978000-179003200	Weak transcription	Spleen	Spleen
8	chr2:178978000-179003800	Weak transcription	Aorta	Aorta
9	chr2:178978000-179016400	Weak transcription	Gastric	stomach
10	chr2:178978200-178986600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:178978200-178986800	Weak transcription	Psoas Muscle	Psoas
12	chr2:178978200-178990200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:178978200-178997400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:178978200-179002800	Weak transcription	Fetal Stomach	stomach
15	chr2:178978400-178986600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:178978400-178986600	Weak transcription	Ovary	ovary
17	chr2:178978400-178988200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:178978400-178988200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:178978400-178988800	Weak transcription	HUVEC	blood vessel
20	chr2:178978400-178990000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:178978400-178990200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:178978400-178991800	Weak transcription	Colonic Mucosa	Colon
23	chr2:178978400-178997400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:178978400-179001200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:178978400-179001400	Weak transcription	Brain Substantia Nigra	brain
26	chr2:178978400-179001600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:178978400-179001800	Weak transcription	Brain Angular Gyrus	brain
28	chr2:178978600-178986600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:178978600-178986600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:178978600-178986600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:178978600-178987000	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:178978600-178987600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:178978600-178989200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:178978600-178989600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:178978600-178990200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:178978600-178996000	Weak transcription	Stomach Mucosa	stomach
37	chr2:178978600-178998400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:178978600-179001800	Weak transcription	Hela-S3	cervix
39	chr2:178978600-179003000	Weak transcription	Right Ventricle	heart
40	chr2:178978600-179003600	Weak transcription	Fetal Heart	heart
41	chr2:178978800-178986600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:178978800-178986600	Weak transcription	Fetal Brain Male	brain
43	chr2:178978800-178986600	Weak transcription	Thymus	Thymus
44	chr2:178978800-178986800	Weak transcription	Fetal Lung	lung
45	chr2:178978800-178986800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:178978800-178987600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:178978800-178990800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:178978800-178991600	Weak transcription	Fetal Intestine Small	intestine
49	chr2:178978800-178993800	Weak transcription	HSMMtube	muscle
50	chr2:178978800-178997200	Weak transcription	NHEK	skin

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