Variant report

Variant	rs10195124
Chromosome Location	chr2:54215698-54215699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54214773..54216416-chr2:54226494..54228805,2	MCF-7	breast:
2	chr2:54214676..54216240-chr2:54269746..54271307,2	MCF-7	breast:
3	chr2:54196870..54199646-chr2:54215437..54217712,2	MCF-7	breast:
4	chr2:54213667..54216386-chr2:54218063..54220465,2	K562	blood:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction
ENSG00000068878	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10165401	1.00[AMR][1000 genomes]
rs10208758	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13388005	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13388199	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13398055	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401150	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13409049	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13412439	1.00[AMR][1000 genomes]
rs13414797	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13418576	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13421534	1.00[AMR][1000 genomes]
rs13422211	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1544736	1.00[AMR][1000 genomes]
rs28760371	0.91[AFR][1000 genomes];1.00[AMR][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	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54199000-54221600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:54199000-54228800	Weak transcription	Aorta	Aorta
3	chr2:54200200-54216600	Weak transcription	Right Ventricle	heart
4	chr2:54200400-54218400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:54202800-54215800	Weak transcription	NHEK	skin
6	chr2:54204400-54226400	Weak transcription	Pancreas	Pancrea
7	chr2:54205200-54222600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:54206000-54216600	Weak transcription	Esophagus	oesophagus
9	chr2:54206000-54221600	Weak transcription	Thymus	Thymus
10	chr2:54206000-54226400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:54206400-54220000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:54208200-54221400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:54208400-54248200	Weak transcription	Lung	lung
14	chr2:54208600-54216600	Weak transcription	Gastric	stomach
15	chr2:54208600-54219000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:54208600-54220200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:54208800-54216600	Weak transcription	Brain Angular Gyrus	brain
18	chr2:54209000-54221400	Weak transcription	Fetal Thymus	thymus
19	chr2:54209000-54221600	Weak transcription	Dnd41	blood
20	chr2:54211200-54216600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:54211200-54219000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:54211200-54220600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:54211400-54217800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:54211400-54220200	Weak transcription	Primary B cells from cord blood	blood
25	chr2:54211400-54243000	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:54211600-54215800	Weak transcription	Ovary	ovary
27	chr2:54211800-54215800	Weak transcription	Fetal Intestine Small	intestine
28	chr2:54213600-54216200	Weak transcription	Right Atrium	heart
29	chr2:54213600-54249800	Weak transcription	Left Ventricle	heart
30	chr2:54213800-54217200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr2:54214200-54217000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:54214400-54216000	Weak transcription	Psoas Muscle	Psoas
33	chr2:54214800-54216200	Weak transcription	Small Intestine	intestine
34	chr2:54214800-54216600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:54214800-54217200	Weak transcription	Fetal Stomach	stomach
36	chr2:54214800-54219000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:54215000-54216200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:54215000-54216400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:54215000-54216600	Weak transcription	Adipose Nuclei	Adipose
40	chr2:54215000-54216600	Weak transcription	Brain Anterior Caudate	brain
41	chr2:54215000-54216600	Weak transcription	Brain Substantia Nigra	brain
42	chr2:54215000-54216800	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:54215000-54216800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:54215000-54219000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:54215000-54219200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:54215000-54220600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:54215000-54226000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:54215000-54226000	Weak transcription	HSMMtube	muscle
49	chr2:54215000-54242800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:54215200-54216600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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