Variant report

Variant	rs3791737
Chromosome Location	chr2:114659638-114659639
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	chr2:114655812..114657969-chr2:114659213..114661113,3	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10165272	0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs10167298	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10177263	1.00[ASN][1000 genomes]
rs10194568	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10195630	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201959	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202134	1.00[ASN][1000 genomes]
rs10207551	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10207785	0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs10210324	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1022412	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10496455	0.82[ASN][1000 genomes]
rs11123218	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887418	0.97[ASN][1000 genomes]
rs11887772	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11889821	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890727	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893418	1.00[ASN][1000 genomes]
rs11896388	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898729	0.80[ASN][1000 genomes]
rs11899049	0.85[CHB][hapmap];0.88[ASN][1000 genomes]
rs12464791	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466572	0.98[ASN][1000 genomes]
rs12613877	0.99[ASN][1000 genomes]
rs12618683	0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12711790	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12711794	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13003655	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13387553	0.97[ASN][1000 genomes]
rs13388876	0.80[ASN][1000 genomes]
rs13396086	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13396561	0.96[ASN][1000 genomes]
rs13405344	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13405706	0.94[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13418557	0.96[ASN][1000 genomes]
rs13422248	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403402	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][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];0.98[ASN][1000 genomes]
rs1467291	0.94[ASW][hapmap];0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[MEX][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1486800	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1504042	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17045275	0.80[ASN][1000 genomes]
rs1916201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2140263	0.85[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap]
rs2419080	0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.98[ASN][1000 genomes]
rs3791736	0.83[ASN][1000 genomes]
rs3791739	0.98[ASN][1000 genomes]
rs3791743	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4278937	0.92[ASN][1000 genomes]
rs4338971	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55685338	0.82[AMR][1000 genomes]
rs55810358	1.00[ASN][1000 genomes]
rs6542177	0.88[CEU][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6542178	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6542181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6542182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6542184	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542186	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6711858	0.98[ASN][1000 genomes]
rs6720853	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs6723415	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6726327	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6729412	0.97[ASN][1000 genomes]
rs6734273	0.85[ASN][1000 genomes]
rs6734839	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6738134	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6740934	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6743651	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs6750503	0.96[ASN][1000 genomes]
rs6761646	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7567097	0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7582072	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585468	0.92[ASN][1000 genomes]
rs7595941	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7603501	0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs7603764	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9308686	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs996513	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs996514	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs996515	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3791737	CHCHD5	cis	cerebellum	SCAN

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114648600-114667600	Weak transcription	Lung	lung
2	chr2:114649200-114661200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:114649200-114673200	Weak transcription	Placenta	Placenta
4	chr2:114649600-114661000	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:114650200-114661000	Weak transcription	Right Ventricle	heart
6	chr2:114652000-114667600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:114652000-114667600	Weak transcription	Esophagus	oesophagus
8	chr2:114652200-114700600	Weak transcription	Fetal Brain Male	brain
9	chr2:114652400-114660400	Weak transcription	Fetal Kidney	kidney
10	chr2:114652400-114686000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:114653200-114662400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:114653400-114662000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:114653400-114672600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:114654000-114660400	Enhancers	Primary B cells from peripheral blood	blood
16	chr2:114654000-114670000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr2:114654400-114667600	Weak transcription	Thymus	Thymus
18	chr2:114654600-114674600	Weak transcription	Hela-S3	cervix
19	chr2:114654600-114675400	Weak transcription	Fetal Stomach	stomach
20	chr2:114654800-114663400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:114654800-114666800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr2:114655400-114660200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr2:114655400-114661000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:114655400-114663000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:114655600-114661800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:114655600-114665400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:114655600-114665800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr2:114655600-114667600	Weak transcription	HMEC	breast
29	chr2:114655600-114667800	Weak transcription	Fetal Intestine Small	intestine
30	chr2:114655800-114660200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:114655800-114661000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:114655800-114661800	Weak transcription	Fetal Brain Female	brain
33	chr2:114655800-114662000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:114655800-114665000	Weak transcription	Ovary	ovary
35	chr2:114655800-114672600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:114655800-114672600	Weak transcription	NHEK	skin
37	chr2:114656000-114661800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:114656000-114662200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:114656600-114661800	Weak transcription	Brain Anterior Caudate	brain
40	chr2:114656600-114664600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:114656600-114668000	Weak transcription	NHLF	lung
42	chr2:114656800-114661000	Weak transcription	Fetal Thymus	thymus
43	chr2:114656800-114670800	Weak transcription	Dnd41	blood
44	chr2:114657200-114661400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:114657200-114661600	Weak transcription	HUVEC	blood vessel
46	chr2:114657400-114660400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:114657400-114661000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:114657400-114661200	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr2:114657400-114661400	Weak transcription	Brain Germinal Matrix	brain
50	chr2:114657400-114661800	Weak transcription	NHDF-Ad	bronchial

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