Variant report

Variant	rs62176783
Chromosome Location	chr2:169740887-169740888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:169740008..169742410-chr20:3801025..3803112,2	K562	blood:
2	chr2:169736562..169739615-chr2:169739927..169743457,5	K562	blood:

Variant related genes	Relation type
ENSG00000125843	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10497345	0.97[EUR][1000 genomes]
rs10497348	1.00[EUR][1000 genomes]
rs34073293	1.00[EUR][1000 genomes]
rs58191289	1.00[EUR][1000 genomes]
rs59686285	0.97[EUR][1000 genomes]
rs62175726	0.97[EUR][1000 genomes]
rs62176769	1.00[EUR][1000 genomes]
rs62176770	1.00[EUR][1000 genomes]
rs62176780	0.95[EUR][1000 genomes]
rs62176781	0.97[EUR][1000 genomes]
rs62176786	1.00[EUR][1000 genomes]
rs6739749	1.00[EUR][1000 genomes]
rs6739984	1.00[EUR][1000 genomes]
rs73014610	1.00[EUR][1000 genomes]

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	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv875381	chr2:169686559-169749841	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169698600-169744600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:169715400-169746200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:169716000-169745800	Weak transcription	HSMM	muscle
4	chr2:169717000-169746400	Weak transcription	Primary B cells from cord blood	blood
5	chr2:169722000-169741200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:169722000-169741400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:169722000-169741400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:169722000-169741400	Weak transcription	NHEK	skin
9	chr2:169722000-169741800	Weak transcription	Fetal Lung	lung
10	chr2:169722000-169742800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:169722000-169744000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:169722000-169745800	Weak transcription	Fetal Stomach	stomach
13	chr2:169722000-169745800	Weak transcription	GM12878-XiMat	blood
14	chr2:169722000-169746000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:169722000-169746000	Weak transcription	Fetal Intestine Large	intestine
16	chr2:169722000-169746000	Weak transcription	Fetal Intestine Small	intestine
17	chr2:169722000-169746000	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:169722200-169741400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:169728600-169741400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:169729600-169741600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:169729600-169745800	Weak transcription	Thymus	Thymus
22	chr2:169730000-169741400	Weak transcription	HMEC	breast
23	chr2:169730200-169743200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:169730200-169745800	Weak transcription	HUVEC	blood vessel
25	chr2:169730400-169741000	Weak transcription	A549	lung
26	chr2:169731600-169746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:169731800-169741400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:169731800-169741600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:169731800-169746600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:169732000-169745800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:169733800-169741000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:169733800-169741400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:169733800-169741600	Weak transcription	NHDF-Ad	bronchial
34	chr2:169733800-169745800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:169734000-169744000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:169734000-169746200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:169734200-169745800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:169737000-169741400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:169737200-169744000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:169737600-169745800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:169737800-169741400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:169737800-169745800	Weak transcription	Fetal Heart	heart
43	chr2:169738000-169741400	Weak transcription	Osteobl	bone
44	chr2:169738000-169746000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:169738200-169741000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:169738400-169744200	Weak transcription	NH-A	brain
47	chr2:169738600-169741200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:169739400-169746400	Weak transcription	Primary T cells from cord blood	blood
49	chr2:169739600-169746000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:169740000-169741800	Strong transcription	Dnd41	blood

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