Variant report

Variant	rs2147616
Chromosome Location	chr14:65391102-65391103
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65380332..65384001-chr14:65388831..65392561,3	K562	blood:
2	chr14:65380579..65384480-chr14:65390113..65394782,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125954	Chromatin interaction
ENSG00000258289	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 23 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10136196	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10145845	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10498518	1.00[YRI][hapmap]
rs1064108	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11540873	0.84[EUR][1000 genomes]
rs11623886	0.83[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs11627589	0.92[AFR][1000 genomes]
rs12433639	0.90[AFR][1000 genomes]
rs12433641	0.90[AFR][1000 genomes]
rs12590986	1.00[YRI][hapmap]
rs12878229	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12878467	0.80[AFR][1000 genomes]
rs12879744	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12889323	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12891652	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12897440	0.80[AFR][1000 genomes]
rs1570295	0.80[JPT][hapmap]
rs1951487	0.80[AFR][1000 genomes]
rs1951488	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs1951993	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1957418	0.90[AFR][1000 genomes]
rs1957423	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1957425	1.00[YRI][hapmap]
rs2071566	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2147612	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2277501	0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2296326	0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2412106	0.81[AMR][1000 genomes]
rs2737844	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]
rs28679793	0.82[ASN][1000 genomes]
rs2898874	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3087955	0.80[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34969442	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35176965	0.90[AFR][1000 genomes]
rs3759681	0.82[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs396974	0.80[JPT][hapmap]
rs4243629	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs45454295	0.86[EUR][1000 genomes]
rs4902334	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902339	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6573585	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs7143358	0.95[CEU][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs743263	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs762071	0.84[AFR][1000 genomes]
rs8003530	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8016174	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8021590	0.83[AFR][1000 genomes]
rs8021876	0.80[AFR][1000 genomes]
rs8021998	0.80[AFR][1000 genomes]
rs8022122	0.80[AFR][1000 genomes]

mRNA abundance (count:23)

SNP	Gene	Cis/trans	Tissue	Source
rs2147616	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs2147616	CHURC1	cis	Esophagus Mucosa	GTEx
rs2147616	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs2147616	CHURC1	cis	Cerebellum	GTEx
rs2147616	C14orf52	cis	multi-tissue	Pritchard
rs2147616	CHURC1	cis	lung	GTEx
rs2147616	CHURC1	cis	uninvolved skin	skin_eQTL
rs2147616	CHURC1	cis	Muscle Skeletal	GTEx
rs2147616	CHURC1	cis	Nerve Tibial	GTEx
rs2147616	CHURC1	cis	Esophagus Muscularis	GTEx
rs2147616	CHURC1	cis	Whole Blood	GTEx
rs2147616	CHURC1	cis	Heart Left Ventricle	GTEx
rs2147616	CHURC1	cis	multi-tissue	Pritchard
rs2147616	CHURC1	cis	Frontal Cortex	GTEx
rs2147616	CHURC1	cis	Artery Aorta	GTEx
rs2147616	CHURC1	cis	Brain Pons	GTEx
rs2147616	CHURC1	cis	normal skin	skin_eQTL
rs2147616	CHURC1	cis	lesional skin	skin_eQTL
rs2147616	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs2147616	CHURC1	cis	Adipose Subcutaneous	GTEx
rs2147616	CHURC1	cis	Thyroid	GTEx
rs2147616	CHURC1	cis	Artery Tibial	GTEx
rs2147616	CHURC1	cis	Temporal Cortex	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65382000-65399200	Weak transcription	Esophagus	oesophagus
2	chr14:65382000-65409200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:65382200-65391200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr14:65382200-65391600	Weak transcription	Ovary	ovary
5	chr14:65382200-65394800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:65382200-65395600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:65382400-65391200	Weak transcription	Fetal Brain Female	brain
8	chr14:65382400-65391400	Weak transcription	Colonic Mucosa	Colon
9	chr14:65382400-65391600	Weak transcription	Fetal Stomach	stomach
10	chr14:65382400-65394000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:65382400-65409200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:65382400-65417400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:65382400-65420000	Weak transcription	Fetal Brain Male	brain
14	chr14:65382600-65391200	Weak transcription	Fetal Kidney	kidney
15	chr14:65382800-65391200	Weak transcription	Brain Substantia Nigra	brain
16	chr14:65382800-65391400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:65382800-65392000	Weak transcription	Fetal Intestine Small	intestine
18	chr14:65382800-65393000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:65382800-65393000	Weak transcription	Right Ventricle	heart
20	chr14:65382800-65393000	Weak transcription	NHLF	lung
21	chr14:65382800-65394400	Weak transcription	Small Intestine	intestine
22	chr14:65382800-65394600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:65382800-65404200	Weak transcription	Stomach Mucosa	stomach
24	chr14:65383000-65391200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr14:65383000-65391200	Weak transcription	Fetal Lung	lung
26	chr14:65383000-65391400	Weak transcription	Thymus	Thymus
27	chr14:65383000-65393200	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:65383000-65394800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:65383000-65419400	Weak transcription	K562	blood
30	chr14:65383200-65391200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:65383200-65391200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:65383200-65391200	Weak transcription	HMEC	breast
33	chr14:65383800-65403800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr14:65384400-65404800	Weak transcription	Gastric	stomach
35	chr14:65385600-65393000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:65385600-65393000	Weak transcription	Lung	lung
37	chr14:65385600-65395800	Weak transcription	Pancreas	Pancrea
38	chr14:65386000-65393200	Weak transcription	Fetal Heart	heart
39	chr14:65386400-65409200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr14:65386600-65391200	Weak transcription	Left Ventricle	heart
41	chr14:65386600-65391200	Weak transcription	HepG2	liver
42	chr14:65386600-65391600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:65386600-65393200	Weak transcription	NHEK	skin
44	chr14:65386600-65394200	Weak transcription	Psoas Muscle	Psoas
45	chr14:65387400-65391400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:65387400-65392000	Weak transcription	Spleen	Spleen
47	chr14:65387400-65395800	Weak transcription	Aorta	Aorta
48	chr14:65388400-65394600	Strong transcription	Fetal Thymus	thymus
49	chr14:65388600-65391800	Weak transcription	A549	lung
50	chr14:65389400-65394400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood

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