Variant report

Variant	rs11128813
Chromosome Location	chr3:17071977-17071978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:17067604..17070878-chr3:17071956..17074432,3	K562	blood:
2	chr3:17062783..17065021-chr3:17070923..17072631,2	K562	blood:
3	chr3:17070050..17072867-chr3:17074097..17076055,2	MCF-7	breast:
4	chr3:17070807..17073673-chr3:17074313..17077008,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11128814	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11717433	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11717649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721224	0.84[ASN][1000 genomes]
rs11915356	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12108065	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs12488103	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12491516	0.99[ASN][1000 genomes]
rs12492983	0.85[ASW][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.82[TSI][hapmap];0.91[YRI][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12494582	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12495362	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1372071	0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs17042909	0.94[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17042920	0.82[ASN][1000 genomes]
rs2014490	0.87[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs34322012	0.94[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3796299	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4131153	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4289331	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4334629	0.87[CHB][hapmap];0.91[CHD][hapmap]
rs4383507	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4402923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4416363	0.90[ASN][1000 genomes]
rs4452313	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4577450	0.94[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4684305	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4684306	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4684307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4684308	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4685405	0.82[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap]
rs4685409	0.81[CHD][hapmap]
rs4685411	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.88[ASN][1000 genomes]
rs4685419	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4685423	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4685424	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.90[ASN][1000 genomes]
rs4685425	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4685426	0.83[CHB][hapmap]
rs58679681	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58750701	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58765457	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62246033	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62247183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62247186	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62247188	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62247190	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62247256	0.90[ASN][1000 genomes]
rs6777357	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6780191	0.81[CHD][hapmap]
rs6796352	0.94[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6803135	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6806862	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7612044	0.87[CHB][hapmap]
rs7617779	0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs7634374	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7639882	0.95[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7648912	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs7653027	0.80[CHD][hapmap]
rs7653834	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs964576	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9821630	1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs9824172	0.87[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap]
rs9825009	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9844888	0.82[JPT][hapmap]
rs9853476	0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.86[ASN][1000 genomes]
rs9879150	0.87[CHB][hapmap];0.84[CHD][hapmap]
rs9883633	0.86[CHB][hapmap];0.80[JPT][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11128813	CHCHD4	cis	parietal	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17051600-17075000	Weak transcription	Fetal Brain Male	brain
2	chr3:17053400-17072600	Weak transcription	Ovary	ovary
3	chr3:17053600-17076200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:17053600-17080600	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:17053800-17086800	Weak transcription	Fetal Stomach	stomach
6	chr3:17055000-17077000	Weak transcription	Fetal Brain Female	brain
7	chr3:17055200-17072000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:17055400-17074200	Weak transcription	Brain Anterior Caudate	brain
9	chr3:17055400-17088800	Weak transcription	Thymus	Thymus
10	chr3:17055600-17079800	Weak transcription	Small Intestine	intestine
11	chr3:17055800-17087800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:17057400-17076200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:17057600-17080600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr3:17058200-17074000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:17058600-17077000	Weak transcription	Right Ventricle	heart
16	chr3:17058600-17082400	Weak transcription	Fetal Intestine Large	intestine
17	chr3:17059800-17073000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:17060000-17072800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:17060000-17074600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr3:17060000-17082200	Weak transcription	Fetal Intestine Small	intestine
21	chr3:17060000-17088600	Weak transcription	Pancreas	Pancrea
22	chr3:17060200-17081000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr3:17061800-17073200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr3:17065600-17081200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:17066000-17072000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr3:17066400-17072000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:17066600-17072600	Weak transcription	Psoas Muscle	Psoas
28	chr3:17066600-17075600	Weak transcription	Left Ventricle	heart
29	chr3:17069000-17073200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr3:17069200-17072400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr3:17069400-17072600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:17069400-17085600	Weak transcription	Aorta	Aorta
33	chr3:17069600-17072600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:17069600-17080800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:17069800-17073000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr3:17069800-17073200	Weak transcription	Fetal Kidney	kidney
37	chr3:17070000-17093600	Weak transcription	Fetal Lung	lung
38	chr3:17070200-17072000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:17070200-17072200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr3:17070200-17073200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr3:17070200-17073200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr3:17070400-17072000	Weak transcription	NHEK	skin
43	chr3:17070600-17072600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr3:17070800-17073000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr3:17070800-17073000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:17070800-17073000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr3:17070800-17073200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr3:17071000-17072800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr3:17071000-17073200	Strong transcription	Placenta	Placenta
50	chr3:17071000-17074400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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