Variant report

Variant	rs10188070
Chromosome Location	chr2:58299326-58299327
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	chr2:58291888..58295027-chr2:58296997..58299740,3	K562	blood:
2	chr2:58291116..58293259-chr2:58298631..58301133,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10172212	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs10205421	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1040224	0.94[JPT][hapmap]
rs1040225	0.94[JPT][hapmap]
rs10490251	0.84[MKK][hapmap]
rs12477242	0.89[CEU][hapmap]
rs12620940	0.89[CEU][hapmap];0.87[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12622856	0.80[JPT][hapmap]
rs12713370	0.94[JPT][hapmap]
rs1401100	0.94[JPT][hapmap]
rs1518395	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs1518399	0.83[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes]
rs1568252	0.83[CHD][hapmap];0.94[JPT][hapmap]
rs1568253	0.81[CHD][hapmap];0.94[JPT][hapmap]
rs2043890	0.89[CEU][hapmap];0.80[JPT][hapmap];0.82[MEX][hapmap];0.96[MKK][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2118899	0.83[AMR][1000 genomes]
rs2312147	0.82[CEU][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs2465804	0.94[JPT][hapmap]
rs2678870	0.94[JPT][hapmap]
rs2678880	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs2678889	0.94[JPT][hapmap]
rs2678897	0.94[JPT][hapmap]
rs2678901	0.94[JPT][hapmap]
rs2678903	0.94[JPT][hapmap]
rs2678905	0.94[JPT][hapmap]
rs2678906	0.94[JPT][hapmap]
rs2678908	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs2717001	0.84[CHD][hapmap];0.94[JPT][hapmap]
rs2717002	0.84[CHD][hapmap];0.94[JPT][hapmap]
rs2717004	0.94[JPT][hapmap]
rs2717006	0.94[JPT][hapmap]
rs2717019	0.94[JPT][hapmap]
rs2717023	0.81[CHD][hapmap];0.94[JPT][hapmap]
rs2717024	0.83[CHD][hapmap];0.94[JPT][hapmap]
rs2717031	0.83[CHD][hapmap];0.94[JPT][hapmap]
rs2717036	0.83[CHD][hapmap];0.94[JPT][hapmap]
rs2717040	0.81[CHD][hapmap];0.94[JPT][hapmap]
rs2717043	0.94[JPT][hapmap]
rs6545677	0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs6732310	0.91[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap]
rs848286	0.92[CEU][hapmap];0.82[GIH][hapmap]
rs848287	0.92[CEU][hapmap];0.80[JPT][hapmap];0.82[MEX][hapmap];0.84[MKK][hapmap];0.82[TSI][hapmap]
rs848288	0.89[CEU][hapmap];0.96[MKK][hapmap];0.85[TSI][hapmap]
rs848289	0.89[CEU][hapmap]
rs961522	0.84[ASW][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs968653	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs970941	0.94[JPT][hapmap]
rs986512	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999591	chr2:58214871-58316147	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv582097	chr2:58266099-58346966	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv874201	chr2:58269871-58350504	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv874202	chr2:58269871-58375688	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58274600-58302400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:58274800-58302200	Weak transcription	Aorta	Aorta
3	chr2:58274800-58317400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:58275000-58302600	Weak transcription	Esophagus	oesophagus
5	chr2:58275000-58302800	Weak transcription	Fetal Stomach	stomach
6	chr2:58275000-58305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:58275000-58317400	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:58275000-58321600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:58275000-58326600	Weak transcription	Pancreas	Pancrea
10	chr2:58275800-58316800	Weak transcription	HMEC	breast
11	chr2:58279000-58319000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:58279400-58315600	Weak transcription	Dnd41	blood
13	chr2:58282400-58300400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:58282400-58301400	Weak transcription	Lung	lung
15	chr2:58282600-58350400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:58284200-58303800	Weak transcription	Gastric	stomach
17	chr2:58284200-58317600	Weak transcription	HepG2	liver
18	chr2:58284400-58325000	Weak transcription	NHEK	skin
19	chr2:58285200-58317000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:58286200-58302200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:58286200-58317600	Weak transcription	K562	blood
22	chr2:58286400-58302000	Weak transcription	Hela-S3	cervix
23	chr2:58286400-58317600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:58287200-58315800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:58288200-58311000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:58289400-58300000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:58289400-58300200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:58290000-58301000	Weak transcription	Placenta	Placenta
29	chr2:58290400-58315800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:58291200-58299600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:58291200-58301800	Weak transcription	Thymus	Thymus
32	chr2:58291200-58316400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:58291400-58302200	Weak transcription	Brain Substantia Nigra	brain
34	chr2:58291400-58302200	Weak transcription	Fetal Heart	heart
35	chr2:58291600-58305800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:58291600-58315600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:58291600-58316200	Weak transcription	HUVEC	blood vessel
38	chr2:58291600-58317800	Weak transcription	HSMM	muscle
39	chr2:58291600-58317800	Weak transcription	NH-A	brain
40	chr2:58291600-58319000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:58291600-58321800	Weak transcription	Fetal Thymus	thymus
42	chr2:58291600-58325000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:58291800-58306400	Weak transcription	HSMMtube	muscle
44	chr2:58291800-58318800	Weak transcription	Osteobl	bone
45	chr2:58292000-58316200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:58292200-58316200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:58292200-58319000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:58292200-58319000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:58292600-58299600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:58292600-58302200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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