Variant report

Variant	rs6727520
Chromosome Location	chr2:85965477-85965478
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85930415..85932618-chr2:85965102..85967438,2	K562	blood:
2	chr2:85964549..85967309-chr2:85973437..85975079,2	K562	blood:
3	chr2:85965048..85966910-chr2:85967176..85969800,2	MCF-7	breast:
4	chr2:85957921..85961748-chr2:85964446..85969197,5	MCF-7	breast:
5	chr2:85964481..85966686-chr2:85966953..85969412,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1356621	0.86[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs1356623	0.83[CHD][hapmap];0.86[GIH][hapmap]
rs1465822	0.86[GIH][hapmap]
rs1465823	0.86[GIH][hapmap]
rs2118401	0.86[GIH][hapmap]
rs2176625	0.92[EUR][1000 genomes]
rs4832006	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4832007	0.85[CEU][hapmap];0.94[EUR][1000 genomes]
rs4832008	0.85[CEU][hapmap];0.96[EUR][1000 genomes]
rs4832188	0.93[EUR][1000 genomes]
rs4832190	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4832191	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6735639	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6735655	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6727520	CAPG	cis	parietal	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85941200-85967400	Weak transcription	Esophagus	oesophagus
2	chr2:85955200-85966400	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr2:85958600-85965600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:85959200-85968000	Weak transcription	Fetal Heart	heart
5	chr2:85960400-85966400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:85960800-85965600	Enhancers	Colon Smooth Muscle	Colon
7	chr2:85960800-85968200	Weak transcription	Right Ventricle	heart
8	chr2:85961000-85966200	Enhancers	NHDF-Ad	bronchial
9	chr2:85961400-85967200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:85961600-85966000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:85961600-85968000	Weak transcription	Left Ventricle	heart
12	chr2:85962000-85965800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:85962200-85966200	Enhancers	A549	lung
14	chr2:85962400-85966600	Enhancers	Fetal Stomach	stomach
15	chr2:85962400-85968600	Enhancers	Fetal Lung	lung
16	chr2:85963000-85965600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:85963000-85966000	Enhancers	NHLF	lung
18	chr2:85963000-85967200	Weak transcription	Stomach Mucosa	stomach
19	chr2:85963200-85968000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:85963200-85968400	Weak transcription	Gastric	stomach
21	chr2:85963400-85969200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:85963600-85965800	Enhancers	HSMM	muscle
23	chr2:85963800-85965800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:85963800-85965800	Enhancers	Ovary	ovary
25	chr2:85963800-85966400	Enhancers	Right Atrium	heart
26	chr2:85964000-85965600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:85964000-85966000	Enhancers	Fetal Muscle Trunk	muscle
28	chr2:85964200-85966200	Weak transcription	Lung	lung
29	chr2:85964200-85968800	Enhancers	Brain Substantia Nigra	brain
30	chr2:85964400-85968000	Weak transcription	Hela-S3	cervix
31	chr2:85964400-85968200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:85964400-85968200	Weak transcription	Colonic Mucosa	Colon
33	chr2:85964400-85968200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:85964400-85968600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:85964600-85966000	Enhancers	Brain Angular Gyrus	brain
36	chr2:85964800-85965600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:85964800-85965600	Enhancers	Brain Anterior Caudate	brain
38	chr2:85964800-85966000	Enhancers	Brain Hippocampus Middle	brain
39	chr2:85964800-85966000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:85964800-85968600	Enhancers	Brain Cingulate Gyrus	brain
41	chr2:85965000-85967400	Weak transcription	Liver	Liver
42	chr2:85965000-85973400	Enhancers	Fetal Muscle Leg	muscle
43	chr2:85965200-85965600	Enhancers	Adipose Nuclei	Adipose
44	chr2:85965200-85966200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:85965200-85968000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:85965200-85968200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:85965400-85966000	Enhancers	Psoas Muscle	Psoas
48	chr2:85965400-85966000	Weak transcription	HSMMtube	muscle
49	chr2:85965400-85966200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:85965400-85967400	Weak transcription	Aorta	Aorta

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