Variant report

Variant	rs10165253
Chromosome Location	chr2:179732997-179732998
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10183734	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10183737	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10185678	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs10186056	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs10190488	0.94[JPT][hapmap]
rs10199751	0.86[JPT][hapmap]
rs10930836	0.94[JPT][hapmap]
rs1489484	0.93[JPT][hapmap]
rs2078403	0.87[JPT][hapmap]
rs2086832	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2129108	0.94[JPT][hapmap]
rs2170850	0.94[JPT][hapmap]
rs2220127	0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7590740	0.94[JPT][hapmap]
rs998329	0.94[JPT][hapmap]

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	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875455	chr2:179732845-179909467	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179695800-179738400	Weak transcription	Fetal Intestine Large	intestine
2	chr2:179702200-179749200	Weak transcription	Thymus	Thymus
3	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:179713400-179778600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:179717000-179790600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:179724600-179733400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:179726400-179733400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:179728200-179753800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:179728800-179739600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:179729200-179733200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:179729200-179749000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:179729400-179733600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:179729400-179734600	Weak transcription	Right Ventricle	heart
14	chr2:179729400-179753600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:179729600-179733000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:179729600-179734600	Weak transcription	Left Ventricle	heart
17	chr2:179729600-179739400	Weak transcription	Aorta	Aorta
18	chr2:179729600-179747200	Weak transcription	Adipose Nuclei	Adipose
19	chr2:179729800-179733800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:179730200-179735000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:179730600-179733800	Weak transcription	Brain Substantia Nigra	brain
22	chr2:179730600-179735000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr2:179730600-179735000	Weak transcription	Hela-S3	cervix
24	chr2:179730600-179735000	Weak transcription	HMEC	breast
25	chr2:179730600-179735000	Weak transcription	HSMM	muscle
26	chr2:179730600-179735000	Weak transcription	HUVEC	blood vessel
27	chr2:179730600-179735200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:179730600-179735200	Weak transcription	Osteobl	bone
29	chr2:179730600-179739400	Weak transcription	Pancreas	Pancrea
30	chr2:179730600-179739600	Weak transcription	Right Atrium	heart
31	chr2:179730600-179745800	Weak transcription	NHLF	lung
32	chr2:179730600-179749000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:179730800-179735000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:179730800-179745200	Weak transcription	Primary B cells from cord blood	blood
35	chr2:179730800-179750600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:179730800-179756000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:179730800-179770800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:179731000-179734000	Weak transcription	Fetal Heart	heart
39	chr2:179731000-179734200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:179731200-179733000	Weak transcription	HSMMtube	muscle
41	chr2:179732000-179745200	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:179732400-179733000	Enhancers	Psoas Muscle	Psoas
43	chr2:179732400-179733200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:179732400-179733200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr2:179732600-179733000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:179732800-179733000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr2:179732800-179733000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:179732800-179733200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:179732800-179733200	Strong transcription	Primary T cells from cord blood	blood
50	chr2:179732800-179733200	Enhancers	Brain Angular Gyrus	brain

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