Variant report

Variant	rs5743078
Chromosome Location	chr2:190697425-190697426
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	chr2:190696610..190698591-chr2:190698708..190701659,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10181618	0.90[EUR][1000 genomes]
rs12693558	0.90[EUR][1000 genomes]
rs1869522	0.90[EUR][1000 genomes]
rs256543	0.90[EUR][1000 genomes]
rs256547	0.90[EUR][1000 genomes]
rs256548	0.95[EUR][1000 genomes]
rs256553	0.95[EUR][1000 genomes]
rs256555	0.89[EUR][1000 genomes]
rs256559	0.90[EUR][1000 genomes]
rs256561	0.95[EUR][1000 genomes]
rs256565	0.83[EUR][1000 genomes]
rs256566	0.83[EUR][1000 genomes]
rs256569	0.90[EUR][1000 genomes]
rs256575	0.95[EUR][1000 genomes]
rs256576	0.95[EUR][1000 genomes]
rs256578	0.95[EUR][1000 genomes]
rs256579	0.95[EUR][1000 genomes]
rs256585	0.95[EUR][1000 genomes]
rs256586	0.89[EUR][1000 genomes]
rs256587	0.95[EUR][1000 genomes]
rs5743076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934883	0.95[EUR][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	nsv3080	chr2:190661654-190706515	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv584063	chr2:190696924-190708287	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190649800-190713400	Weak transcription	Gastric	stomach
2	chr2:190650400-190711400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:190650600-190700400	Weak transcription	Hela-S3	cervix
4	chr2:190656800-190721000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:190658200-190743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:190659800-190743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:190661400-190717800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:190662800-190719000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:190663000-190701600	Weak transcription	Psoas Muscle	Psoas
10	chr2:190663000-190712800	Weak transcription	Aorta	Aorta
11	chr2:190663200-190700600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:190663200-190712400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:190664800-190741800	Weak transcription	Brain Angular Gyrus	brain
14	chr2:190669400-190743800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:190669600-190709600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:190669600-190713200	Weak transcription	Ovary	ovary
17	chr2:190669800-190709000	Weak transcription	Placenta	Placenta
18	chr2:190670800-190712800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:190671000-190719600	Weak transcription	NH-A	brain
20	chr2:190676200-190712400	Weak transcription	K562	blood
21	chr2:190677000-190709400	Weak transcription	Fetal Intestine Small	intestine
22	chr2:190681000-190743000	Weak transcription	Brain Germinal Matrix	brain
23	chr2:190683800-190709800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:190684000-190700400	Weak transcription	A549	lung
25	chr2:190684000-190712600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:190684000-190712800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:190684000-190743600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:190684400-190698800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:190684400-190700600	Weak transcription	Fetal Brain Male	brain
30	chr2:190684600-190709800	Weak transcription	HMEC	breast
31	chr2:190684600-190712600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr2:190684600-190712600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:190685000-190700800	Weak transcription	Fetal Lung	lung
34	chr2:190685000-190712600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:190685000-190736400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:190685200-190700600	Weak transcription	HSMMtube	muscle
37	chr2:190685200-190700800	Weak transcription	Fetal Brain Female	brain
38	chr2:190685200-190706200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:190685200-190708400	Weak transcription	Fetal Intestine Large	intestine
40	chr2:190685400-190701800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr2:190685400-190712800	Weak transcription	Adipose Nuclei	Adipose
42	chr2:190685400-190739400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:190685400-190741800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:190685600-190709600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:190685600-190712800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:190685800-190698800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:190685800-190702000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr2:190685800-190708600	Weak transcription	Liver	Liver
49	chr2:190685800-190708800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:190685800-190709600	Weak transcription	Fetal Muscle Trunk	muscle

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