Variant report

Variant	rs17102320
Chromosome Location	chr14:65384693-65384694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65379566..65382757-chr14:65383484..65387086,7	MCF-7	breast:
2	chr14:65383733..65385473-chr14:65456282..65458793,2	MCF-7	breast:
3	chr14:65380997..65384717-chr14:65414191..65417570,3	MCF-7	breast:
4	chr14:65382279..65385178-chr14:65385744..65388338,3	K562	blood:
5	chr14:65384670..65387392-chr14:65406391..65409044,2	MCF-7	breast:
6	chr14:65384161..65387036-chr14:65415035..65417512,2	MCF-7	breast:
7	chr14:65381530..65387972-chr14:65390181..65394582,7	K562	blood:

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

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10144554	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs1467569	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1467570	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1467571	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1467573	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1951490	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1951491	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1951492	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1951495	1.00[CEU][hapmap];0.96[CHB][hapmap]
rs1957427	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1957428	0.90[ASN][1000 genomes]
rs1957429	0.90[ASN][1000 genomes]
rs1957431	0.89[ASN][1000 genomes]
rs1957432	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1957434	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1957435	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1957436	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1998333	0.89[ASN][1000 genomes]
rs2412107	0.82[JPT][hapmap]
rs28370916	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2884308	0.89[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs368818	0.81[CHB][hapmap]
rs3813421	0.84[ASN][1000 genomes]
rs3813422	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3813423	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4899150	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4902325	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs4902327	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs55983720	0.98[AFR][1000 genomes]
rs59000318	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59876171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60979440	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6573580	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs6573581	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs6573583	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6573584	0.80[CHB][hapmap]
rs7141985	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7143541	0.87[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7143661	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144718	1.00[CEU][hapmap];0.96[CHB][hapmap];0.83[JPT][hapmap]
rs763346	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs8008745	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8009510	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8009996	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8013772	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9783609	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17102320	CHURC1	cis	multi-tissue	Pritchard
rs17102320	C14orf52	cis	multi-tissue	Pritchard
rs17102320	CHURC1	cis	Lymphoblastoid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65381800-65386000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:65382000-65385200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:65382000-65386400	Weak transcription	Aorta	Aorta
4	chr14:65382000-65399200	Weak transcription	Esophagus	oesophagus
5	chr14:65382000-65409200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:65382200-65385200	Weak transcription	Lung	lung
7	chr14:65382200-65386800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:65382200-65390800	Weak transcription	Placenta	Placenta
9	chr14:65382200-65391200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr14:65382200-65391600	Weak transcription	Ovary	ovary
11	chr14:65382200-65394800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:65382200-65395600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:65382400-65384800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:65382400-65386400	Weak transcription	Right Atrium	heart
15	chr14:65382400-65387800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:65382400-65388400	Weak transcription	Fetal Thymus	thymus
17	chr14:65382400-65390600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:65382400-65390600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:65382400-65390600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:65382400-65390600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:65382400-65390600	Weak transcription	Fetal Intestine Large	intestine
22	chr14:65382400-65390800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:65382400-65390800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:65382400-65391000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr14:65382400-65391200	Weak transcription	Fetal Brain Female	brain
26	chr14:65382400-65391400	Weak transcription	Colonic Mucosa	Colon
27	chr14:65382400-65391600	Weak transcription	Fetal Stomach	stomach
28	chr14:65382400-65394000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:65382400-65409200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:65382400-65417400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:65382400-65420000	Weak transcription	Fetal Brain Male	brain
32	chr14:65382600-65391200	Weak transcription	Fetal Kidney	kidney
33	chr14:65382800-65385000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:65382800-65385200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:65382800-65385200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:65382800-65385600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:65382800-65386200	Weak transcription	Psoas Muscle	Psoas
38	chr14:65382800-65387400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr14:65382800-65390600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:65382800-65390600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:65382800-65390600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:65382800-65390600	Weak transcription	Fetal Muscle Leg	muscle
43	chr14:65382800-65390800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:65382800-65390800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:65382800-65390800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:65382800-65390800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr14:65382800-65390800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr14:65382800-65390800	Weak transcription	NH-A	brain
49	chr14:65382800-65391000	Weak transcription	Brain Germinal Matrix	brain
50	chr14:65382800-65391200	Weak transcription	Brain Substantia Nigra	brain

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