Variant report

Variant	rs57629676
Chromosome Location	chr2:172185522-172185523
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172183444..172186307-chr2:172187734..172190283,2	K562	blood:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10171164	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10186304	0.80[AFR][1000 genomes]
rs10192493	0.80[AFR][1000 genomes]
rs10195990	0.80[AFR][1000 genomes]
rs13395084	0.80[AFR][1000 genomes]
rs13414723	0.83[AFR][1000 genomes]
rs4566333	0.83[AFR][1000 genomes]
rs59235233	0.80[AFR][1000 genomes]
rs59449823	0.80[AFR][1000 genomes]
rs73976149	0.88[AFR][1000 genomes]
rs73976150	0.88[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172169200-172193400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172170200-172192800	Weak transcription	Fetal Intestine Large	intestine
3	chr2:172171400-172190800	Weak transcription	Esophagus	oesophagus
4	chr2:172171800-172211600	Weak transcription	Fetal Intestine Small	intestine
5	chr2:172172600-172190600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:172172800-172190600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:172172800-172222400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:172173600-172186000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:172175400-172187600	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:172175600-172188000	Weak transcription	Adipose Nuclei	Adipose
11	chr2:172176000-172187800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:172176200-172198600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:172178000-172190600	Weak transcription	Left Ventricle	heart
14	chr2:172180000-172195800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:172180600-172190800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:172180600-172203400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:172180800-172193000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:172180800-172198200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:172181000-172188000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:172181000-172203800	Weak transcription	HMEC	breast
21	chr2:172181000-172221600	Weak transcription	K562	blood
22	chr2:172181200-172198000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:172181200-172204200	Weak transcription	NHEK	skin
24	chr2:172181800-172187200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:172182800-172193200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:172183000-172188200	Enhancers	Primary B cells from peripheral blood	blood
27	chr2:172183800-172197200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:172184000-172186600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:172184000-172187000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:172184000-172190200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr2:172184000-172195800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:172184000-172197800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:172184000-172198000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:172184000-172203400	Weak transcription	NH-A	brain
35	chr2:172184200-172193200	Weak transcription	Primary T cells from cord blood	blood
36	chr2:172184400-172186000	Weak transcription	Primary B cells from cord blood	blood
37	chr2:172184600-172186600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:172184600-172186800	Enhancers	GM12878-XiMat	blood
39	chr2:172184600-172190600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:172184600-172190600	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:172184600-172203200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:172184800-172185600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:172184800-172186800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:172184800-172187000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:172184800-172189000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr2:172184800-172195600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:172184800-172195800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:172184800-172203200	Weak transcription	Fetal Thymus	thymus
49	chr2:172184800-172203200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr2:172185000-172187400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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