Variant report

Variant	rs11206812
Chromosome Location	chr1:56913729-56913730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:56899641..56901431-chr1:56912878..56915864,2	K562	blood:
2	chr1:56912555..56915039-chr1:56924933..56927037,2	K562	blood:
3	chr1:56907891..56909911-chr1:56912462..56914664,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11206813	0.83[EUR][1000 genomes]
rs12138516	0.92[EUR][1000 genomes]
rs12736058	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12739002	0.92[EUR][1000 genomes]
rs2780866	0.81[EUR][1000 genomes]
rs4128921	0.93[EUR][1000 genomes]
rs6672624	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6682210	0.91[EUR][1000 genomes]
rs6682251	0.82[EUR][1000 genomes]
rs6684123	0.88[EUR][1000 genomes]
rs6687845	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6690687	0.90[EUR][1000 genomes]
rs7418187	0.92[EUR][1000 genomes]
rs7522127	0.82[EUR][1000 genomes]
rs7539463	0.82[EUR][1000 genomes]
rs9803856	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9803955	0.83[EUR][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56905400-56942600	Weak transcription	Gastric	stomach
2	chr1:56905600-56914800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:56906000-56914800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:56908400-56916800	Weak transcription	Brain Anterior Caudate	brain
5	chr1:56909200-56915800	Enhancers	HepG2	liver
6	chr1:56910000-56916200	Enhancers	Liver	Liver
7	chr1:56911800-56914800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:56912000-56913800	Enhancers	Right Ventricle	heart
9	chr1:56912000-56913800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:56912000-56914400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:56912000-56915000	Enhancers	Adipose Nuclei	Adipose
12	chr1:56912000-56915200	Enhancers	NHDF-Ad	bronchial
13	chr1:56912000-56916200	Enhancers	Right Atrium	heart
14	chr1:56912000-56916400	Enhancers	Hela-S3	cervix
15	chr1:56912000-56916600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:56912000-56916600	Enhancers	Left Ventricle	heart
17	chr1:56912200-56913800	Enhancers	Aorta	Aorta
18	chr1:56912200-56914600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:56912400-56914200	Weak transcription	Fetal Kidney	kidney
20	chr1:56912400-56914800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:56912400-56914800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:56912400-56915400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:56912600-56913800	Enhancers	Colon Smooth Muscle	Colon
24	chr1:56912600-56915600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:56912800-56914200	Weak transcription	Fetal Intestine Small	intestine
26	chr1:56912800-56914400	Weak transcription	Fetal Lung	lung
27	chr1:56912800-56914800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:56912800-56915400	Weak transcription	Esophagus	oesophagus
29	chr1:56912800-56915600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:56912800-56915800	Weak transcription	Brain Substantia Nigra	brain
31	chr1:56912800-56915800	Weak transcription	Ovary	ovary
32	chr1:56912800-56918600	Weak transcription	Fetal Heart	heart
33	chr1:56912800-56922400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:56912800-56923400	Weak transcription	Spleen	Spleen
35	chr1:56913000-56914400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:56913000-56914600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:56913000-56914600	Weak transcription	NHLF	lung
38	chr1:56913000-56914800	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:56913000-56915400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:56913000-56916000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:56913200-56914800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:56913200-56917400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:56913400-56914200	Weak transcription	Psoas Muscle	Psoas
44	chr1:56913400-56915800	Weak transcription	Fetal Stomach	stomach
45	chr1:56913600-56913800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:56913600-56913800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:56913600-56913800	Enhancers	Fetal Thymus	thymus
48	chr1:56913600-56913800	Enhancers	Lung	lung
49	chr1:56913600-56913800	Enhancers	Small Intestine	intestine
50	chr1:56913600-56914000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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