Variant report

Variant	rs6432188
Chromosome Location	chr2:11499032-11499033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11493192..11494740-chr2:11496741..11499584,2	K562	blood:
2	chr2:11483743..11487223-chr2:11496291..11499577,4	K562	blood:
3	chr2:11483149..11486489-chr2:11497401..11501170,3	MCF-7	breast:
4	chr2:11498130..11500885-chr2:11501118..11503134,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4497846	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4606895	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4669715	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[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
rs6432188	ROCK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11492600-11500600	Enhancers	Fetal Intestine Large	intestine
2	chr2:11495400-11499600	Weak transcription	Stomach Mucosa	stomach
3	chr2:11495600-11500000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr2:11497400-11500000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr2:11497600-11507400	Weak transcription	Fetal Brain Female	brain
6	chr2:11497800-11499400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:11497800-11499400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:11498000-11504400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:11498200-11499600	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:11498200-11499600	Weak transcription	Fetal Lung	lung
11	chr2:11498200-11502000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:11498200-11505200	Weak transcription	Spleen	Spleen
13	chr2:11498200-11505400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:11498200-11505400	Weak transcription	Liver	Liver
15	chr2:11498200-11505600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:11498200-11507400	Weak transcription	Small Intestine	intestine
17	chr2:11498200-11508000	Weak transcription	Right Atrium	heart
18	chr2:11498400-11499400	Weak transcription	Adipose Nuclei	Adipose
19	chr2:11498400-11499400	Weak transcription	Fetal Intestine Small	intestine
20	chr2:11498400-11499600	Enhancers	HepG2	liver
21	chr2:11498800-11499800	Enhancers	A549	lung
22	chr2:11498800-11500200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:11498800-11505400	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:11498800-11505400	Weak transcription	Placenta	Placenta
25	chr2:11498800-11505600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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