Variant report

Variant	rs10182588
Chromosome Location	chr2:11506960-11506961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr2:11506309-11506990	HepG2	liver:	n/a	n/a
2	MYBL2	chr2:11502990-11507033	HepG2	liver:	n/a	n/a
3	FOXA2	chr2:11505935-11506997	HepG2	liver:	n/a	n/a
4	MAX	chr2:11506221-11507023	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:11483340..11487694-chr2:11505828..11510815,5	K562	blood:
2	chr2:11506369..11508414-chr2:11509960..11513532,3	K562	blood:
3	chr2:11502724..11505633-chr2:11505790..11508071,2	K562	blood:

Variant related genes	Relation type
ENSG00000230952	TF binding region
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10170598	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10170791	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12692438	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12692439	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12692440	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12692441	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12993210	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35029584	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4533449	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6432189	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6708718	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6708945	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6756145	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7595700	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][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
rs10182588	ROCK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:43 , 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	chr2:11504600-11508000	Weak transcription	Psoas Muscle	Psoas
12	chr2:11504800-11507600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:11505400-11508200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:11505400-11514400	Enhancers	Fetal Intestine Large	intestine
15	chr2:11505600-11507800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:11505600-11508000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:11505600-11511600	Enhancers	Fetal Intestine Small	intestine
18	chr2:11505800-11507400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:11505800-11507600	Enhancers	Fetal Brain Male	brain
20	chr2:11505800-11507800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:11505800-11508200	Weak transcription	HSMMtube	muscle
22	chr2:11505800-11508200	Weak transcription	NHLF	lung
23	chr2:11505800-11511000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:11506000-11507400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:11506000-11507400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:11506000-11507400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:11506000-11507400	Weak transcription	HSMM	muscle
28	chr2:11506000-11507800	Weak transcription	Fetal Stomach	stomach
29	chr2:11506000-11508000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:11506000-11508200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:11506000-11508200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:11506000-11508200	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:11506000-11508200	Weak transcription	Placenta	Placenta
34	chr2:11506000-11508400	Weak transcription	Left Ventricle	heart
35	chr2:11506000-11509000	Weak transcription	Lung	lung
36	chr2:11506000-11509400	Weak transcription	Spleen	Spleen
37	chr2:11506000-11511000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:11506000-11514600	Weak transcription	K562	blood
39	chr2:11506200-11507400	Weak transcription	Liver	Liver
40	chr2:11506200-11507800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:11506200-11507800	Weak transcription	A549	lung
42	chr2:11506200-11508000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:11506800-11511000	Enhancers	HepG2	liver

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