Variant report

Variant	rs6708945
Chromosome Location	chr2:11505640-11505641
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	chr2:11503472..11505641-chr2:11513994..11516819,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ROCK2-1	chr2:11505224-11505762	XLOC_001988
2	lnc-ROCK2-1	chr2:11505224-11505658	NONHSAT069161

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10170598	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10170791	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10182588	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10195908	0.91[ASN][1000 genomes]
rs10202323	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs10929734	0.82[JPT][hapmap]
rs12692438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12692439	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12692440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12692441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12993210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13024110	1.00[CHB][hapmap];0.82[JPT][hapmap];0.99[ASN][1000 genomes]
rs35029584	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4280434	1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs4533449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4641909	0.98[ASN][1000 genomes]
rs4668722	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4668723	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs6432189	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6708718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6711409	1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs6711414	1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs6716724	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6719739	0.91[ASN][1000 genomes]
rs6721881	1.00[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs6756145	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7420679	0.91[ASN][1000 genomes]
rs7581184	0.86[JPT][hapmap]
rs7595700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6708945	ROCK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11497600-11507400	Weak transcription	Fetal Brain Female	brain
2	chr2:11498200-11507400	Weak transcription	Small Intestine	intestine
3	chr2:11498200-11508000	Weak transcription	Right Atrium	heart
4	chr2:11500000-11507600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:11500200-11507600	Weak transcription	Brain Germinal Matrix	brain
6	chr2:11500400-11507400	Weak transcription	Fetal Lung	lung
7	chr2:11503200-11508000	Weak transcription	Osteobl	bone
8	chr2:11503400-11507400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:11503400-11507800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:11503400-11508000	Weak transcription	Hela-S3	cervix
11	chr2:11504400-11506000	Enhancers	Fetal Muscle Trunk	muscle
12	chr2:11504600-11508000	Weak transcription	Psoas Muscle	Psoas
13	chr2:11504800-11506000	Enhancers	K562	blood
14	chr2:11504800-11507600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:11505200-11505800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:11505200-11505800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:11505200-11506000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:11505200-11506000	Enhancers	Fetal Stomach	stomach
19	chr2:11505200-11506000	Enhancers	Spleen	Spleen
20	chr2:11505200-11506200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:11505400-11505800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:11505400-11506000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:11505400-11506000	Enhancers	Fetal Muscle Leg	muscle
24	chr2:11505400-11506000	Enhancers	Placenta	Placenta
25	chr2:11505400-11506200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:11505400-11506200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:11505400-11506200	Enhancers	Liver	Liver
28	chr2:11505400-11506800	Flanking Active TSS	HepG2	liver
29	chr2:11505400-11508200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:11505400-11514400	Enhancers	Fetal Intestine Large	intestine
31	chr2:11505600-11505800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:11505600-11505800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:11505600-11505800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:11505600-11505800	Enhancers	HSMMtube	muscle
35	chr2:11505600-11505800	Enhancers	NHLF	lung
36	chr2:11505600-11506000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr2:11505600-11506000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:11505600-11506000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:11505600-11506000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:11505600-11506000	Enhancers	Lung	lung
41	chr2:11505600-11506000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr2:11505600-11506000	Enhancers	HSMM	muscle
43	chr2:11505600-11506200	Enhancers	A549	lung
44	chr2:11505600-11507800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:11505600-11508000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:11505600-11511600	Enhancers	Fetal Intestine Small	intestine

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