Variant report

Variant	rs11799616
Chromosome Location	chr1:173381174-173381175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173378501..173381323-chr1:173794194..173795815,2	K562	blood:
2	chr1:173378386..173381395-chr1:173383017..173386939,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11809193	0.89[ASN][1000 genomes]
rs11811598	0.87[ASN][1000 genomes]
rs12562415	0.86[ASN][1000 genomes]
rs3934577	0.82[ASN][1000 genomes]
rs55741047	0.83[ASN][1000 genomes]
rs57231379	0.87[ASN][1000 genomes]
rs57262055	0.83[ASN][1000 genomes]
rs60302114	0.81[ASN][1000 genomes]
rs6678064	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700499	0.86[ASN][1000 genomes]
rs6702339	0.80[ASN][1000 genomes]
rs72726915	0.83[ASN][1000 genomes]
rs74126390	0.83[ASN][1000 genomes]
rs7538559	0.89[ASN][1000 genomes]
rs7555324	0.83[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	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173348600-173389400	Weak transcription	Right Ventricle	heart
2	chr1:173362600-173381200	Weak transcription	Ovary	ovary
3	chr1:173362800-173382600	Weak transcription	Fetal Heart	heart
4	chr1:173363800-173389400	Weak transcription	Fetal Lung	lung
5	chr1:173365000-173385200	Weak transcription	Fetal Stomach	stomach
6	chr1:173365200-173382600	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:173370800-173382600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:173370800-173389200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:173370800-173389200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:173370800-173389400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:173370800-173389400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:173370800-173389400	Weak transcription	Aorta	Aorta
13	chr1:173372000-173398600	Weak transcription	Brain Substantia Nigra	brain
14	chr1:173374800-173382600	Weak transcription	Fetal Intestine Small	intestine
15	chr1:173375200-173398600	Weak transcription	Esophagus	oesophagus
16	chr1:173375400-173381400	Weak transcription	NHDF-Ad	bronchial
17	chr1:173375400-173381400	Weak transcription	NHLF	lung
18	chr1:173376000-173389400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:173376200-173381200	Weak transcription	Hela-S3	cervix
20	chr1:173376200-173383000	Weak transcription	K562	blood
21	chr1:173376200-173389400	Weak transcription	Brain Anterior Caudate	brain
22	chr1:173376200-173429000	Weak transcription	Gastric	stomach
23	chr1:173376400-173382600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:173376400-173382800	Weak transcription	Fetal Thymus	thymus
25	chr1:173376400-173384000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:173376400-173384600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:173376400-173385000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:173376400-173385200	Weak transcription	Lung	lung
29	chr1:173376400-173389000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:173376400-173389200	Weak transcription	Liver	Liver
31	chr1:173376400-173389200	Weak transcription	A549	lung
32	chr1:173376400-173389400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:173376400-173389400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:173376400-173389400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:173376400-173400800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:173376600-173389200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:173376600-173389400	Weak transcription	Colonic Mucosa	Colon
38	chr1:173376600-173389600	Enhancers	Primary B cells from peripheral blood	blood
39	chr1:173376600-173392600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:173377800-173383600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr1:173378000-173384000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr1:173378200-173384600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr1:173378400-173398400	Weak transcription	Brain Angular Gyrus	brain
44	chr1:173378600-173382600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:173378800-173381600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:173379000-173381400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:173379000-173382600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:173379000-173398400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:173379200-173382400	Weak transcription	Left Ventricle	heart
50	chr1:173379200-173393200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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