Variant report

Variant	rs2399686
Chromosome Location	chr11:93300727-93300728
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93275006..93276616-chr11:93298797..93301021,2	K562	blood:
2	chr11:93298274..93300833-chr11:93304518..93308257,3	K562	blood:
3	chr11:93296559..93298205-chr11:93298979..93301756,2	K562	blood:
4	chr11:93298565..93302751-chr11:93303785..93308130,4	K562	blood:

Variant related genes	Relation type
ENSG00000166002	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11020417	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11020420	0.87[EUR][1000 genomes]
rs11020421	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11020455	0.81[AFR][1000 genomes]
rs2399688	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4753085	0.81[ASN][1000 genomes]
rs4753089	0.80[ASN][1000 genomes]
rs4753472	0.83[AMR][1000 genomes]
rs4753480	0.83[ASN][1000 genomes]
rs7120590	0.80[ASN][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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93298400-93302800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr11:93299400-93300800	Weak transcription	Fetal Intestine Small	intestine
3	chr11:93300200-93300800	Enhancers	HepG2	liver
4	chr11:93300200-93301200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:93300200-93301400	Enhancers	Stomach Mucosa	stomach
6	chr11:93300200-93305200	Enhancers	Liver	Liver
7	chr11:93300400-93301000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:93300400-93301000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:93300400-93301000	Enhancers	Duodenum Mucosa	Duodenum
10	chr11:93300400-93301200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr11:93300400-93301200	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr11:93300400-93301200	Enhancers	Ovary	ovary
13	chr11:93300400-93301200	Enhancers	A549	lung
14	chr11:93300400-93301400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:93300400-93301400	Enhancers	Adipose Nuclei	Adipose
16	chr11:93300400-93301400	Enhancers	Hela-S3	cervix
17	chr11:93300400-93301600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr11:93300400-93301600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr11:93300600-93300800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr11:93300600-93300800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:93300600-93300800	Enhancers	Thymus	Thymus
22	chr11:93300600-93301000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr11:93300600-93301000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:93300600-93301000	Enhancers	Esophagus	oesophagus
25	chr11:93300600-93301000	Enhancers	Fetal Muscle Trunk	muscle
26	chr11:93300600-93301000	Enhancers	Right Atrium	heart
27	chr11:93300600-93301000	Enhancers	HSMM	muscle
28	chr11:93300600-93301200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:93300600-93301200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:93300600-93301200	Enhancers	Aorta	Aorta
31	chr11:93300600-93301200	Enhancers	Fetal Intestine Large	intestine
32	chr11:93300600-93301200	Enhancers	Fetal Lung	lung
33	chr11:93300600-93301200	Enhancers	Gastric	stomach
34	chr11:93300600-93301200	Enhancers	Left Ventricle	heart
35	chr11:93300600-93301200	Enhancers	Pancreas	Pancrea
36	chr11:93300600-93301200	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr11:93300600-93301200	Enhancers	Rectal Smooth Muscle	rectum
38	chr11:93300600-93301200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr11:93300600-93301200	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr11:93300600-93301400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:93300600-93301400	Enhancers	Colon Smooth Muscle	Colon
42	chr11:93300600-93301400	Enhancers	Fetal Muscle Leg	muscle
43	chr11:93300600-93301400	Enhancers	Fetal Stomach	stomach
44	chr11:93300600-93301400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr11:93300600-93301600	Enhancers	Psoas Muscle	Psoas

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