Variant report

Variant	rs718215
Chromosome Location	chr2:10273735-10273736
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10270635..10275854-chr2:10544682..10552679,11	K562	blood:
2	chr2:10273672..10275632-chr2:10379805..10383115,3	K562	blood:
3	chr2:10272153..10274468-chr2:10296810..10299007,2	MCF-7	breast:
4	chr2:10273219..10275582-chr2:10534083..10536706,2	K562	blood:
5	chr2:10272230..10274773-chr2:10544365..10546593,2	MCF-7	breast:
6	chr2:10272011..10278010-chr2:10546327..10552012,10	K562	blood:
7	chr2:10271027..10273752-chr6:16266812..16269282,2	K562	blood:
8	chr2:10273526..10275857-chr20:45986585..45989455,2	MCF-7	breast:
9	chr2:10272274..10274991-chr2:10298937..10301947,3	K562	blood:
10	chr2:10271666..10276241-chr2:10279595..10283078,5	MCF-7	breast:
11	chr2:10238235..10241032-chr2:10272026..10274970,3	K562	blood:
12	chr2:10272209..10275438-chr2:10333614..10336814,3	K562	blood:
13	chr2:10272972..10275013-chr2:10442640..10445673,3	K562	blood:
14	chr2:10273185..10278025-chr2:10572544..10579398,11	K562	blood:
15	chr2:10197998..10200342-chr2:10271933..10274475,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115756	Chromatin interaction
ENSG00000163009	Chromatin interaction

Extended variants
information (count: 34 )
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]
rs4668664	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]
rs6432062	0.92[ASN][1000 genomes]
rs6432064	1.00[ASW][hapmap];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];0.91[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[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[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[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	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603436	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:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs718215	ROCK2	cis	cerebellum	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10263800-10277400	Weak transcription	Esophagus	oesophagus
2	chr2:10263800-10283600	Weak transcription	Spleen	Spleen
3	chr2:10264200-10281800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:10265400-10280000	Weak transcription	Fetal Kidney	kidney
5	chr2:10265400-10284000	Weak transcription	Placenta	Placenta
6	chr2:10265600-10273800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:10265600-10275600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:10265600-10276000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:10266000-10275400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:10266200-10276000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:10267400-10277600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:10267600-10274800	Weak transcription	Fetal Lung	lung
13	chr2:10268800-10274000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:10269000-10276000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:10269000-10277000	Weak transcription	HSMM	muscle
16	chr2:10269600-10299400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:10269800-10274800	Weak transcription	HepG2	liver
18	chr2:10269800-10275400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:10269800-10285200	Weak transcription	Brain Germinal Matrix	brain
20	chr2:10270400-10273800	Genic enhancers	Dnd41	blood
21	chr2:10270800-10274000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr2:10271400-10273800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:10271400-10303800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:10271600-10273800	Strong transcription	Fetal Muscle Leg	muscle
25	chr2:10271800-10273800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:10271800-10274000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:10271800-10274000	Strong transcription	Fetal Stomach	stomach
28	chr2:10272000-10273800	Genic enhancers	H1 Cell Line	embryonic stem cell
29	chr2:10272000-10274000	Genic enhancers	K562	blood
30	chr2:10272000-10275000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:10272200-10273800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:10272200-10273800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:10272200-10273800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:10272200-10276000	Weak transcription	NHDF-Ad	bronchial
35	chr2:10272200-10284000	Weak transcription	GM12878-XiMat	blood
36	chr2:10272400-10273800	Genic enhancers	A549	lung
37	chr2:10272400-10274600	Weak transcription	Hela-S3	cervix
38	chr2:10272400-10276200	Weak transcription	Fetal Intestine Large	intestine
39	chr2:10272400-10276200	Weak transcription	NH-A	brain
40	chr2:10272400-10276200	Weak transcription	Osteobl	bone
41	chr2:10272400-10277200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:10272400-10277600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:10272600-10289800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:10272800-10273800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:10272800-10273800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:10272800-10274000	Genic enhancers	Thymus	Thymus
47	chr2:10272800-10275600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:10272800-10275800	Weak transcription	NHEK	skin
49	chr2:10273000-10273800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:10273000-10273800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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