Variant report

Variant	rs729917
Chromosome Location	chr2:10284315-10284316
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	chr2:9920726..9922513-chr2:10283585..10286351,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10172702	0.87[CEU][hapmap]
rs10197121	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs1130609	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11896140	0.87[CEU][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap]
rs13392622	0.97[ASN][1000 genomes]
rs2110641	0.87[CEU][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap]
rs2110643	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160190	0.84[CEU][hapmap]
rs2241113	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs34455011	0.86[ASN][1000 genomes]
rs4309551	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs4668664	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6432062	0.92[ASN][1000 genomes]
rs6432064	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6432065	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6432066	0.94[CEU][hapmap]
rs6432068	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs6706570	0.83[CEU][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap]
rs6707144	0.84[CEU][hapmap]
rs6715884	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737932	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6741290	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6749325	0.83[CEU][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap]
rs6759180	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs717886	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs718215	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7577887	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7603436	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7604817	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7605457	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv873634	chr2:10275814-10337034	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs729917	ROCK2	cis	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10269600-10299400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:10269800-10285200	Weak transcription	Brain Germinal Matrix	brain
3	chr2:10271400-10303800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:10272600-10289800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:10273400-10285000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:10273800-10289800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:10273800-10330400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:10274000-10299200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:10276400-10307400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:10276600-10301800	Weak transcription	Osteobl	bone
11	chr2:10277600-10321600	Weak transcription	K562	blood
12	chr2:10277800-10295400	Weak transcription	Hela-S3	cervix
13	chr2:10278000-10302200	Weak transcription	HSMM	muscle
14	chr2:10278000-10311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:10278200-10285000	Weak transcription	NHEK	skin
16	chr2:10278200-10285200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:10279400-10292000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:10279600-10295600	Weak transcription	Fetal Brain Female	brain
19	chr2:10280800-10287000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:10281000-10292400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:10281000-10294200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:10281600-10286400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:10281600-10287000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:10281800-10287000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr2:10282000-10286400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:10282000-10286800	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:10282000-10287800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:10282200-10290200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:10282200-10316600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:10282400-10284400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:10282400-10285800	Genic enhancers	Fetal Intestine Small	intestine
32	chr2:10282400-10286400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:10282400-10287000	Strong transcription	Thymus	Thymus
34	chr2:10282400-10289800	Strong transcription	Dnd41	blood
35	chr2:10282600-10285600	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr2:10282800-10284400	Strong transcription	A549	lung
37	chr2:10282800-10284800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:10283000-10285600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:10283000-10289200	Strong transcription	Fetal Thymus	thymus
40	chr2:10283000-10289600	Weak transcription	Primary T cells from cord blood	blood
41	chr2:10283400-10284400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:10283400-10284400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:10283400-10284600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:10283400-10286400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:10283400-10287000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr2:10283400-10287800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:10283600-10284400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:10283600-10284600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:10283600-10284600	Genic enhancers	Fetal Muscle Leg	muscle
50	chr2:10283600-10285600	Weak transcription	Colonic Mucosa	Colon

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