Variant report

Variant	rs1867194
Chromosome Location	chr3:105542435-105542436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:105539575..105542989-chr3:105543009..105546955,3	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs12054270	1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12487349	0.82[ASN][1000 genomes]
rs12493071	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1443100	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16851512	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16851553	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16851673	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16851707	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1814078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2028598	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2028599	1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2055558	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2055559	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2120103	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes]
rs2120104	0.88[ASN][1000 genomes]
rs2301028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2301034	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2301035	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3213928	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34360428	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35909361	0.90[ASN][1000 genomes]
rs3772517	0.90[ASN][1000 genomes]
rs3772522	1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3772525	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3821490	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4431143	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4469007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4894956	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62255570	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62255571	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62255572	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62255573	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62255575	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62256353	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62258160	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62261460	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62261462	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62261487	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62261489	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62261491	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62261492	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62261493	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62261495	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62261496	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62261497	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62261498	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62261499	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62261538	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62261539	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62263056	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62263057	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62263059	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62263169	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62263170	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62264260	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6809776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7619706	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7628896	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7631219	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7641527	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7650046	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[YRI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs964173	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9657903	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9657924	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs971109	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9849559	0.88[ASN][1000 genomes]
rs9856147	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	nsv877309	chr3:105373836-105542435	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105483200-105555200	Weak transcription	Placenta	Placenta
2	chr3:105505000-105548200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:105511400-105566400	Weak transcription	Aorta	Aorta
4	chr3:105521200-105546800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:105528400-105543200	Weak transcription	Gastric	stomach
6	chr3:105528400-105553600	Weak transcription	Fetal Kidney	kidney
7	chr3:105528600-105542600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:105529000-105546600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr3:105531400-105546600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:105531600-105546400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:105532200-105563000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:105533600-105560600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:105533800-105570000	Weak transcription	Dnd41	blood
14	chr3:105534200-105566200	Weak transcription	Brain Germinal Matrix	brain
15	chr3:105534400-105546600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:105535600-105553800	Weak transcription	Fetal Brain Male	brain
17	chr3:105536600-105543200	Weak transcription	Right Ventricle	heart
18	chr3:105537800-105546800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:105538800-105545000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:105539200-105543200	Weak transcription	Lung	lung
21	chr3:105539200-105546200	Weak transcription	Esophagus	oesophagus
22	chr3:105539400-105551600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:105539800-105544400	Enhancers	Stomach Mucosa	stomach
24	chr3:105540000-105543600	Enhancers	Fetal Intestine Large	intestine
25	chr3:105540000-105544200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr3:105540200-105542600	Enhancers	HSMMtube	muscle
27	chr3:105540200-105542800	Genic enhancers	Primary B cells from cord blood	blood
28	chr3:105540200-105542800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr3:105540200-105543400	Enhancers	HepG2	liver
30	chr3:105540200-105543600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr3:105540200-105543600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr3:105540200-105543800	Enhancers	Fetal Intestine Small	intestine
33	chr3:105540200-105543800	Enhancers	Small Intestine	intestine
34	chr3:105540200-105543800	Enhancers	Hela-S3	cervix
35	chr3:105540200-105544000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr3:105540200-105544000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr3:105540200-105544200	Genic enhancers	Osteobl	bone
38	chr3:105540400-105544400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:105540400-105545000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr3:105540800-105543800	Enhancers	HSMM	muscle
41	chr3:105540800-105569600	Weak transcription	Fetal Thymus	thymus
42	chr3:105541000-105543200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr3:105541000-105543600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:105541000-105554400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:105541200-105542600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:105541200-105542800	Enhancers	Brain Anterior Caudate	brain
47	chr3:105541200-105543000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:105541200-105543200	Strong transcription	Primary T cells from cord blood	blood
49	chr3:105541200-105543200	Enhancers	Brain Substantia Nigra	brain
50	chr3:105541200-105543200	Enhancers	Skeletal Muscle Female	skeletal muscle

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