Variant report

Variant	rs11583462
Chromosome Location	chr1:211786086-211786087
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211785288..211788085-chr1:212796796..212799464,2	K562	blood:
2	chr1:211749761..211758387-chr1:211774495..211787871,24	K562	blood:
3	chr1:211782443..211790536-chr1:211800686..211806134,8	K562	blood:
4	chr1:211784999..211786549-chr1:211812192..211813764,2	K562	blood:
5	chr1:211777656..211789537-chr1:211792028..211798981,15	K562	blood:

Variant related genes	Relation type
ENSG00000227764	Chromatin interaction
ENSG00000170385	Chromatin interaction
ENSG00000261314	Chromatin interaction
ENSG00000162771	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs35258060	0.81[ASN][1000 genomes]
rs6702177	0.81[ASN][1000 genomes]
rs676520	0.81[ASN][1000 genomes]
rs7520829	0.81[ASN][1000 genomes]
rs7528646	0.81[ASN][1000 genomes]
rs894856	0.81[ASN][1000 genomes]
rs9430073	0.81[ASN][1000 genomes]
rs9430075	0.81[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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211771600-211786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:211777000-211786600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:211777200-211786200	Weak transcription	NHLF	lung
4	chr1:211780800-211786400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:211781000-211786400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:211781200-211786200	Enhancers	K562	blood
7	chr1:211781400-211786400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:211781600-211787000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:211781800-211786400	Weak transcription	Stomach Mucosa	stomach
10	chr1:211781800-211792000	Weak transcription	Primary B cells from cord blood	blood
11	chr1:211782000-211786600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:211782000-211786600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:211782200-211787400	Weak transcription	Small Intestine	intestine
14	chr1:211782600-211786200	Weak transcription	Fetal Intestine Large	intestine
15	chr1:211782600-211786200	Enhancers	Hela-S3	cervix
16	chr1:211782600-211786200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr1:211782800-211787400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:211783000-211786200	Weak transcription	Fetal Intestine Small	intestine
19	chr1:211783000-211786400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:211783800-211786600	Weak transcription	Gastric	stomach
21	chr1:211784000-211787000	Enhancers	Colon Smooth Muscle	Colon
22	chr1:211784000-211787800	Enhancers	Fetal Muscle Leg	muscle
23	chr1:211784000-211788400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr1:211784200-211787000	Enhancers	Spleen	Spleen
25	chr1:211784200-211789200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:211784400-211786400	Enhancers	A549	lung
27	chr1:211784400-211787400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:211784400-211787400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:211784400-211788400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:211784600-211786200	Weak transcription	HMEC	breast
31	chr1:211784600-211786200	Weak transcription	NH-A	brain
32	chr1:211784600-211786400	Weak transcription	Osteobl	bone
33	chr1:211784600-211789400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:211784800-211786200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:211784800-211786600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:211784800-211786600	Weak transcription	Fetal Heart	heart
37	chr1:211784800-211788400	Enhancers	Placenta	Placenta
38	chr1:211785000-211786200	Weak transcription	Pancreas	Pancrea
39	chr1:211785000-211786200	Weak transcription	Right Atrium	heart
40	chr1:211785000-211786200	Weak transcription	NHDF-Ad	bronchial
41	chr1:211785000-211786400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:211785000-211786600	Weak transcription	Fetal Brain Male	brain
43	chr1:211785000-211789400	Weak transcription	Liver	Liver
44	chr1:211785000-211789800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:211785200-211786200	Weak transcription	Brain Substantia Nigra	brain
46	chr1:211785200-211786200	Weak transcription	Lung	lung
47	chr1:211785200-211786200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:211785200-211786400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:211785200-211786400	Weak transcription	Brain Angular Gyrus	brain
50	chr1:211785200-211786400	Weak transcription	Stomach Smooth Muscle	stomach

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