Variant report

Variant	rs66705656
Chromosome Location	chr2:11498147-11498148
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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ROCK2-1	chr2:11497641-11498162	XLOC_001988
2	lnc-ROCK2-1	chr2:11497350-11498162	NONHSAT069161

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs55657626	0.96[EUR][1000 genomes]
rs55750834	0.96[EUR][1000 genomes]
rs55841255	0.96[EUR][1000 genomes]
rs66554543	1.00[EUR][1000 genomes]
rs66668184	0.98[EUR][1000 genomes]
rs67791660	1.00[EUR][1000 genomes]
rs67998492	1.00[EUR][1000 genomes]
rs68106030	1.00[EUR][1000 genomes]
rs68193683	0.98[EUR][1000 genomes]
rs72771303	0.94[EUR][1000 genomes]
rs72771305	0.93[EUR][1000 genomes]
rs72774840	0.96[EUR][1000 genomes]
rs72774847	1.00[EUR][1000 genomes]
rs72789547	0.96[EUR][1000 genomes]
rs7422435	0.96[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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11492600-11500600	Enhancers	Fetal Intestine Large	intestine
2	chr2:11494600-11498200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:11494600-11498200	Enhancers	Spleen	Spleen
4	chr2:11494600-11498400	Enhancers	Fetal Intestine Small	intestine
5	chr2:11494800-11498800	Enhancers	Fetal Muscle Leg	muscle
6	chr2:11494800-11498800	Enhancers	Placenta	Placenta
7	chr2:11495400-11498200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:11495400-11499600	Weak transcription	Stomach Mucosa	stomach
9	chr2:11495600-11498200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:11495600-11500000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:11495800-11498200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:11496600-11498200	Enhancers	Fetal Lung	lung
13	chr2:11496600-11498800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:11496800-11498200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:11496800-11498200	Enhancers	Lung	lung
16	chr2:11496800-11498200	Enhancers	Psoas Muscle	Psoas
17	chr2:11496800-11498400	Enhancers	Adipose Nuclei	Adipose
18	chr2:11497000-11498200	Enhancers	Right Ventricle	heart
19	chr2:11497000-11498200	Enhancers	Small Intestine	intestine
20	chr2:11497000-11498200	Enhancers	HSMMtube	muscle
21	chr2:11497400-11498200	Enhancers	Liver	Liver
22	chr2:11497400-11498200	Enhancers	Right Atrium	heart
23	chr2:11497400-11500000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr2:11497600-11498200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:11497600-11498400	Flanking Active TSS	HepG2	liver
26	chr2:11497600-11507400	Weak transcription	Fetal Brain Female	brain
27	chr2:11497800-11499400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:11497800-11499400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:11498000-11498200	Enhancers	Colon Smooth Muscle	Colon
30	chr2:11498000-11498800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:11498000-11504400	Weak transcription	Fetal Muscle Trunk	muscle

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