Variant report

Variant	rs2737844
Chromosome Location	chr14:65408509-65408510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65407129..65411344-chr14:65424634..65427852,4	MCF-7	breast:
2	chr14:65407165..65409389-chr14:65411251..65413100,2	K562	blood:
3	chr14:65408375..65411114-chr14:65437552..65439159,4	MCF-7	breast:
4	chr14:65384670..65387392-chr14:65406391..65409044,2	MCF-7	breast:
5	chr14:65380406..65382948-chr14:65406634..65410888,4	MCF-7	breast:
6	chr14:65404531..65408586-chr14:65450812..65454369,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125954	Chromatin interaction
ENSG00000257365	Chromatin interaction
ENSG00000258289	Chromatin interaction
ENSG00000139998	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 28 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10136196	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10145845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10498518	0.92[ASW][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap]
rs1064108	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11540873	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11623886	0.89[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs11627589	0.88[AFR][1000 genomes]
rs12433639	0.86[AFR][1000 genomes]
rs12433641	0.86[AFR][1000 genomes]
rs12590986	0.92[ASW][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap]
rs12878229	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12879744	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12889323	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12891652	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1570295	0.80[JPT][hapmap]
rs1951488	0.83[ASW][hapmap];0.88[GIH][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap]
rs1951993	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1957418	0.86[AFR][1000 genomes]
rs1957423	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1957425	0.92[ASW][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap]
rs2071566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147612	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2147616	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2277501	0.84[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2296326	0.89[CHD][hapmap];0.85[JPT][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2412106	0.90[GIH][hapmap];0.86[AMR][1000 genomes]
rs2898874	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3087955	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34969442	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35176965	0.86[AFR][1000 genomes]
rs3759681	0.82[CEU][hapmap];0.90[JPT][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs396974	0.80[JPT][hapmap]
rs4243629	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs45454295	0.88[EUR][1000 genomes]
rs4902334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902339	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6573585	1.00[YRI][hapmap]
rs7143358	0.95[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs743263	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs743264	0.91[MEX][hapmap];0.94[MKK][hapmap]
rs762071	0.81[AFR][1000 genomes]
rs8003530	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8016174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:28)

SNP	Gene	Cis/trans	Tissue	Source
rs2737844	CHURC1	cis	multi-tissue	Pritchard
rs2737844	RAB15	cis	cerebellum	SCAN
rs2737844	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs2737844	CHURC1	cis	parietal	SCAN
rs2737844	CHURC1	cis	Whole Blood	GTEx
rs2737844	CHURC1	cis	Nerve Tibial	GTEx
rs2737844	CHURC1	cis	Esophagus Mucosa	GTEx
rs2737844	CHURC1	cis	Brain Pons	GTEx
rs2737844	CHURC1	cis	cerebellum	SCAN
rs2737844	CHURC1	cis	Frontal Cortex	GTEx
rs2737844	CHURC1	cis	brain	seeQTL
rs2737844	CHURC1	cis	Temporal Cortex	GTEx
rs2737844	CHURC1	cis	Artery Aorta	GTEx
rs2737844	CHURC1	cis	Heart Left Ventricle	GTEx
rs2737844	MAX	cis	cerebellum	SCAN
rs2737844	CHURC1	cis	Esophagus Muscularis	GTEx
rs2737844	CHURC1	cis	Artery Tibial	GTEx
rs2737844	CHURC1	cis	Cerebellum	GTEx
rs2737844	CHURC1	cis	lesional skin	skin_eQTL
rs2737844	CHURC1	cis	Thyroid	GTEx
rs2737844	CHURC1	cis	Adipose Subcutaneous	GTEx
rs2737844	C14orf52	cis	multi-tissue	Pritchard
rs2737844	CHURC1	cis	Muscle Skeletal	GTEx
rs2737844	CHURC1	cis	lymphoblastoid	seeQTL
rs2737844	CHURC1	cis	uninvolved skin	skin_eQTL
rs2737844	CHURC1	cis	normal skin	skin_eQTL
rs2737844	CHURC1	cis	lung	GTEx
rs2737844	RAB15	cis	lymphoblastoid	seeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65382000-65409200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:65382400-65409200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:65382400-65417400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:65382400-65420000	Weak transcription	Fetal Brain Male	brain
5	chr14:65383000-65419400	Weak transcription	K562	blood
6	chr14:65386400-65409200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:65390600-65409600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:65390600-65409800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr14:65393400-65422200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:65393800-65409200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:65396000-65409600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:65396000-65410400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:65396000-65413600	Weak transcription	Fetal Brain Female	brain
14	chr14:65396000-65417800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:65397400-65411200	Strong transcription	Dnd41	blood
16	chr14:65399000-65428000	Weak transcription	NHLF	lung
17	chr14:65399200-65412400	Weak transcription	Brain Germinal Matrix	brain
18	chr14:65400000-65410400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:65400000-65417000	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:65400400-65415200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr14:65400600-65409200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:65400800-65408800	Weak transcription	HMEC	breast
23	chr14:65400800-65410200	Weak transcription	Fetal Lung	lung
24	chr14:65401400-65409200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:65401400-65409400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:65401400-65432200	Weak transcription	HUVEC	blood vessel
27	chr14:65401600-65412400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr14:65401600-65413200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:65401600-65435000	Weak transcription	NH-A	brain
30	chr14:65401800-65409400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:65401800-65412600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:65402400-65415000	Weak transcription	Osteobl	bone
33	chr14:65402600-65408600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:65402600-65410200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr14:65403000-65412800	Strong transcription	Thymus	Thymus
36	chr14:65403400-65414600	Weak transcription	Left Ventricle	heart
37	chr14:65404000-65408600	Strong transcription	Primary B cells from cord blood	blood
38	chr14:65404000-65409600	Strong transcription	Primary T cells from cord blood	blood
39	chr14:65404000-65410600	Enhancers	Pancreas	Pancrea
40	chr14:65404000-65412200	Strong transcription	Fetal Thymus	thymus
41	chr14:65404400-65410200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr14:65404400-65410400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:65404400-65414200	Weak transcription	Right Ventricle	heart
44	chr14:65404400-65415000	Weak transcription	Brain Hippocampus Middle	brain
45	chr14:65404400-65416600	Weak transcription	Psoas Muscle	Psoas
46	chr14:65404400-65419600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr14:65404600-65410400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:65404600-65410600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr14:65404600-65412200	Weak transcription	Brain Anterior Caudate	brain
50	chr14:65404600-65413400	Weak transcription	HSMMtube	muscle

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