Variant report

Variant	rs4668664
Chromosome Location	chr2:10268798-10268799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10212601..10214407-chr2:10268587..10270323,2	K562	blood:
2	chr2:10267037..10269007-chr2:10310464..10312919,2	K562	blood:
3	chr2:10268261..10270412-chr2:10564291..10566012,3	K562	blood:
4	chr17:56408352..56409911-chr2:10267487..10269783,2	K562	blood:

Variant related genes	Relation type
ENSG00000265206	Chromatin interaction

Extended variants
information (count: 35 )
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];0.98[ASN][1000 genomes]
rs11896140	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs13392622	0.98[ASN][1000 genomes]
rs2110641	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs2110643	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2160190	0.84[CEU][hapmap]
rs2241113	0.87[CEU][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap]
rs34455011	0.87[ASN][1000 genomes]
rs4309551	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs6432062	0.92[ASN][1000 genomes]
rs6432064	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6432065	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6432066	0.94[CEU][hapmap]
rs6432068	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs6706570	0.83[CEU][hapmap];0.81[JPT][hapmap]
rs6707144	0.84[CEU][hapmap]
rs6715884	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6737932	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6741290	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs6749325	0.83[CEU][hapmap];0.81[JPT][hapmap]
rs6759180	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.96[MKK][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717886	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729917	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]
rs7577887	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603436	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7604817	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7605457	0.90[CEU][hapmap]

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	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	nsv1007965	chr2:10154960-10276125	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1014790	chr2:10156968-10274855	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv999019	chr2:10157762-10273232	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4668664	ROCK2	cis	cerebellum	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10262800-10270400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr2:10263800-10272200	Weak transcription	Gastric	stomach
3	chr2:10263800-10277400	Weak transcription	Esophagus	oesophagus
4	chr2:10263800-10283600	Weak transcription	Spleen	Spleen
5	chr2:10264200-10268800	Enhancers	Fetal Heart	heart
6	chr2:10264200-10281800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:10264600-10272000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:10264600-10272800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:10265000-10269800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:10265000-10270000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:10265200-10270400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:10265400-10268800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:10265400-10269600	Weak transcription	Small Intestine	intestine
14	chr2:10265400-10269800	Genic enhancers	HepG2	liver
15	chr2:10265400-10269800	Genic enhancers	K562	blood
16	chr2:10265400-10269800	Strong transcription	NHEK	skin
17	chr2:10265400-10270000	Weak transcription	Primary B cells from cord blood	blood
18	chr2:10265400-10270000	Genic enhancers	A549	lung
19	chr2:10265400-10271400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:10265400-10271400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:10265400-10272000	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr2:10265400-10272200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:10265400-10273600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:10265400-10280000	Weak transcription	Fetal Kidney	kidney
25	chr2:10265400-10284000	Weak transcription	Placenta	Placenta
26	chr2:10265600-10268800	Genic enhancers	HUVEC	blood vessel
27	chr2:10265600-10269600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:10265600-10270200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:10265600-10272800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:10265600-10273800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:10265600-10275600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:10265600-10276000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:10266000-10268800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:10266000-10275400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:10266200-10268800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:10266200-10269600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:10266200-10269600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:10266200-10270400	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr2:10266200-10271800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:10266200-10272000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:10266200-10272200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:10266200-10272400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:10266200-10272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:10266200-10276000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:10266400-10269000	Strong transcription	HSMM	muscle
46	chr2:10266400-10269600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:10266400-10273600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr2:10266600-10269200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr2:10266600-10273000	Strong transcription	HMEC	breast
50	chr2:10267000-10270200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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