Variant report

Variant	rs7611127
Chromosome Location	chr3:17056031-17056032
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	chr3:17044092..17045719-chr3:17054139..17056797,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10865746	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11128815	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11717329	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11926952	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12108065	0.80[CHD][hapmap]
rs12233492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12487288	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12497667	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12497953	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13058764	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13059347	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13071645	0.81[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13080108	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13080782	0.82[EUR][1000 genomes]
rs13317381	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1441035	0.87[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17272796	0.87[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1806555	0.80[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs1806556	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1837697	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2014490	0.86[JPT][hapmap]
rs35319117	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3906814	0.84[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3924971	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4234539	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4295151	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4334629	0.89[CEU][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap]
rs4353792	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4423750	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4461404	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4472039	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4535211	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4561816	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4596131	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4602367	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4618210	0.85[JPT][hapmap]
rs4684308	0.81[JPT][hapmap]
rs4685404	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4685405	0.86[JPT][hapmap]
rs4685408	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4685409	0.81[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4685415	0.85[AMR][1000 genomes]
rs4685418	0.84[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4685420	0.92[CEU][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4685421	0.92[CEU][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4685422	1.00[YRI][hapmap]
rs4685426	0.90[JPT][hapmap]
rs4685427	0.85[JPT][hapmap]
rs55748719	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6442660	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs6762816	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6776032	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6780191	0.82[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6781611	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6797029	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6805534	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6807144	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6809087	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7610811	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7612044	0.92[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7617672	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7629171	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7645335	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7648912	0.80[CHD][hapmap]
rs7653027	0.82[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7653834	0.80[CHD][hapmap]
rs9810017	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9824172	0.86[JPT][hapmap]
rs9830460	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9841259	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9844888	0.87[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs9854760	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9862613	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9879150	0.95[JPT][hapmap]
rs9880307	0.91[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9881521	0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9883633	0.89[JPT][hapmap]
rs9985404	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7611127	CHCHD4	cis	parietal	SCAN
rs7611127	PLCL2	cis	Whole Blood	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17049400-17056200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:17050000-17056200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:17050200-17056200	Weak transcription	Lung	lung
4	chr3:17050200-17059200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:17050800-17060200	Strong transcription	Primary hematopoietic stem cells	blood
6	chr3:17050800-17061000	Strong transcription	Primary B cells from cord blood	blood
7	chr3:17051000-17060000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr3:17051200-17060000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:17051200-17060200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr3:17051200-17060800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr3:17051400-17058600	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr3:17051600-17063000	Weak transcription	HUVEC	blood vessel
13	chr3:17051600-17075000	Weak transcription	Fetal Brain Male	brain
14	chr3:17052800-17056400	Weak transcription	Fetal Kidney	kidney
15	chr3:17053200-17062800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr3:17053200-17069000	Weak transcription	Aorta	Aorta
17	chr3:17053200-17069000	Weak transcription	Fetal Lung	lung
18	chr3:17053400-17056200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr3:17053400-17056200	Weak transcription	Dnd41	blood
20	chr3:17053400-17059600	Weak transcription	Fetal Thymus	thymus
21	chr3:17053400-17072600	Weak transcription	Ovary	ovary
22	chr3:17053600-17056200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:17053600-17056200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:17053600-17056400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:17053600-17058000	Enhancers	Fetal Intestine Large	intestine
26	chr3:17053600-17059400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:17053600-17059400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:17053600-17062800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:17053600-17064400	Weak transcription	Spleen	Spleen
30	chr3:17053600-17071000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr3:17053600-17076200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr3:17053600-17080600	Weak transcription	Fetal Muscle Leg	muscle
33	chr3:17053800-17056200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr3:17053800-17068400	Weak transcription	Adipose Nuclei	Adipose
35	chr3:17053800-17086800	Weak transcription	Fetal Stomach	stomach
36	chr3:17054000-17058600	Enhancers	Fetal Heart	heart
37	chr3:17054200-17056200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr3:17054600-17056800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:17054600-17057400	Enhancers	Stomach Mucosa	stomach
40	chr3:17054600-17058200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:17054800-17056200	Weak transcription	Placenta	Placenta
42	chr3:17055000-17057000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr3:17055000-17059200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr3:17055000-17060000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:17055000-17066200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:17055000-17077000	Weak transcription	Fetal Brain Female	brain
47	chr3:17055200-17072000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:17055400-17056200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:17055400-17056200	Weak transcription	Left Ventricle	heart
50	chr3:17055400-17056600	Enhancers	HepG2	liver

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