Variant report

Variant	rs13399965
Chromosome Location	chr2:205412909-205412910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:205407568..205411328-chr2:205411600..205414612,5	MCF-7	breast:
2	chr2:205411083..205413447-chr2:205421490..205423717,2	K562	blood:
3	chr2:205297634..205300011-chr2:205411567..205413627,2	K562	blood:

Variant related genes	Relation type
ENSG00000116117	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10166278	1.00[EUR][1000 genomes]
rs10175056	1.00[EUR][1000 genomes]
rs10184804	1.00[EUR][1000 genomes]
rs10184836	1.00[EUR][1000 genomes]
rs10190012	1.00[EUR][1000 genomes]
rs10190374	1.00[EUR][1000 genomes]
rs10194617	1.00[EUR][1000 genomes]
rs10199785	1.00[EUR][1000 genomes]
rs10199977	1.00[EUR][1000 genomes]
rs10205679	1.00[EUR][1000 genomes]
rs11899900	1.00[EUR][1000 genomes]
rs11904034	1.00[EUR][1000 genomes]
rs11904064	1.00[EUR][1000 genomes]
rs12328697	1.00[EUR][1000 genomes]
rs13390481	1.00[EUR][1000 genomes]
rs13397135	1.00[EUR][1000 genomes]
rs13397282	1.00[EUR][1000 genomes]
rs13399833	1.00[EUR][1000 genomes]
rs13400246	1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13407064	1.00[EUR][1000 genomes]
rs13410864	1.00[EUR][1000 genomes]
rs13412566	1.00[EUR][1000 genomes]
rs13427607	1.00[EUR][1000 genomes]
rs13428250	1.00[EUR][1000 genomes]
rs2197690	1.00[EUR][1000 genomes]
rs4645000	1.00[EUR][1000 genomes]
rs6741392	1.00[EUR][1000 genomes]
rs6742942	1.00[EUR][1000 genomes]
rs73057258	1.00[EUR][1000 genomes]
rs73057269	1.00[EUR][1000 genomes]
rs73057270	1.00[EUR][1000 genomes]
rs73984226	1.00[EUR][1000 genomes]
rs9288355	1.00[EUR][1000 genomes]
rs9973966	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205410800-205413200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:205411200-205415800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:205411200-205416200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:205411400-205415000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:205411400-205415000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:205411400-205415200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:205411400-205415400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:205411400-205415400	Weak transcription	Stomach Mucosa	stomach
9	chr2:205411400-205415800	Weak transcription	Lung	lung
10	chr2:205411400-205415800	Weak transcription	Small Intestine	intestine
11	chr2:205411400-205416200	Weak transcription	Gastric	stomach
12	chr2:205411400-205416800	Weak transcription	Pancreas	Pancrea
13	chr2:205411600-205414400	Weak transcription	Brain Anterior Caudate	brain
14	chr2:205411600-205414800	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:205411600-205415000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:205411600-205415000	Weak transcription	Fetal Stomach	stomach
17	chr2:205411600-205415000	Weak transcription	NHEK	skin
18	chr2:205411600-205415400	Weak transcription	NH-A	brain
19	chr2:205411600-205417000	Weak transcription	Psoas Muscle	Psoas
20	chr2:205411600-205426600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:205411600-205438000	Weak transcription	Left Ventricle	heart
22	chr2:205411800-205413200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:205411800-205414600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:205411800-205415000	Weak transcription	Fetal Heart	heart
25	chr2:205411800-205415000	Weak transcription	Ovary	ovary
26	chr2:205411800-205415600	Weak transcription	Fetal Intestine Large	intestine
27	chr2:205411800-205415600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:205411800-205416000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:205411800-205419400	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:205412000-205414800	Weak transcription	Osteobl	bone
31	chr2:205412000-205415200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:205412000-205415400	Weak transcription	HSMMtube	muscle
33	chr2:205412000-205415800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:205412000-205417200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:205412000-205427600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:205412000-205429800	Weak transcription	Aorta	Aorta
37	chr2:205412200-205413800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:205412200-205414200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:205412200-205414800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:205412200-205414800	Weak transcription	HSMM	muscle
41	chr2:205412200-205415400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:205412200-205415400	Weak transcription	Fetal Intestine Small	intestine
43	chr2:205412200-205416200	Weak transcription	Right Atrium	heart
44	chr2:205412400-205413000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:205412400-205414000	Weak transcription	NHLF	lung
46	chr2:205412400-205414200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:205412400-205414400	Weak transcription	NHDF-Ad	bronchial
48	chr2:205412400-205414600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:205412400-205414600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:205412400-205414800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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