Variant report

Variant	rs17489287
Chromosome Location	chr2:98393231-98393232
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	chr10:112679022..112679864-chr2:98392755..98393255,2	NB4	blood:

Variant related genes	Relation type
ENSG00000214413	Chromatin interaction
ENSG00000108061	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11679828	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs11680018	0.86[ASN][1000 genomes]
rs11688829	1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs11692470	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs12988571	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs13004090	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17489454	0.81[ASW][hapmap];0.81[GIH][hapmap]
rs17489984	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17490429	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2044459	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2084176	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2278700	0.81[GIH][hapmap]
rs2305143	0.81[GIH][hapmap]
rs34373359	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs34654057	0.96[ASN][1000 genomes]
rs34974566	0.93[ASN][1000 genomes]
rs35218942	0.86[ASN][1000 genomes]
rs55776387	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs62156511	0.89[ASN][1000 genomes]
rs6710088	0.86[ASN][1000 genomes]
rs6738389	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs895438	0.88[GIH][hapmap]

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	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98352200-98398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:98366200-98400000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:98368000-98393800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:98368600-98413000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:98369600-98398800	Strong transcription	Fetal Muscle Leg	muscle
6	chr2:98370600-98393800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:98370600-98407600	Weak transcription	HUVEC	blood vessel
8	chr2:98371200-98398600	Strong transcription	Primary B cells from cord blood	blood
9	chr2:98377200-98394400	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr2:98377400-98408000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:98377400-98410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:98378600-98421400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:98380800-98393800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:98381400-98397600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:98382800-98398600	Weak transcription	Small Intestine	intestine
16	chr2:98382800-98419800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:98383000-98408600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:98383200-98408800	Weak transcription	Fetal Brain Male	brain
19	chr2:98383200-98420200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:98383400-98405600	Weak transcription	A549	lung
21	chr2:98384000-98398800	Weak transcription	Stomach Mucosa	stomach
22	chr2:98385400-98399200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:98385800-98398800	Strong transcription	Fetal Stomach	stomach
24	chr2:98386000-98398800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:98386200-98398000	Strong transcription	Fetal Intestine Large	intestine
26	chr2:98386200-98398800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr2:98386400-98395600	Weak transcription	Right Atrium	heart
28	chr2:98386600-98398200	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:98386800-98393800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr2:98386800-98395600	Weak transcription	Fetal Heart	heart
31	chr2:98387200-98393600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:98387400-98393800	Strong transcription	Stomach Smooth Muscle	stomach
33	chr2:98387400-98394200	Strong transcription	Left Ventricle	heart
34	chr2:98387400-98394400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:98387800-98393600	Strong transcription	Spleen	Spleen
36	chr2:98387800-98408000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:98387800-98408000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:98387800-98438200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:98388000-98393600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:98388000-98393800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:98388000-98394000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:98388000-98396200	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:98388000-98398800	Strong transcription	Fetal Intestine Small	intestine
44	chr2:98388000-98407800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:98388000-98408600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:98388200-98394400	Strong transcription	Liver	Liver
47	chr2:98388400-98393600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:98388400-98393800	Strong transcription	Lung	lung
49	chr2:98388400-98395600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:98388800-98395600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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