Variant report

Variant	rs8004787
Chromosome Location	chr14:55607366-55607367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55526794..55528357-chr14:55606390..55608686,2	MCF-7	breast:
2	chr14:55606982..55609476-chr9:111146186..111147743,2	MCF-7	breast:
3	chr14:55597715..55602179-chr14:55607312..55610754,5	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1009977	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs1009978	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10131926	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10134800	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10137409	0.91[EUR][1000 genomes]
rs10140801	0.84[CEU][hapmap]
rs10140857	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs10140869	0.85[CEU][hapmap]
rs10141552	0.88[CEU][hapmap]
rs10142823	0.83[AMR][1000 genomes]
rs10147667	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs10149435	0.91[EUR][1000 genomes]
rs10150699	0.86[AMR][1000 genomes]
rs10438127	0.91[EUR][1000 genomes]
rs10467798	0.92[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1047556	0.91[EUR][1000 genomes]
rs1109170	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs11621351	0.91[EUR][1000 genomes]
rs11622740	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs11625001	0.92[CEU][hapmap]
rs11625968	0.92[CEU][hapmap]
rs11628437	0.92[CEU][hapmap]
rs13379169	0.84[AMR][1000 genomes]
rs15870	0.91[EUR][1000 genomes]
rs17128183	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17740741	0.85[CEU][hapmap]
rs17741542	0.92[CEU][hapmap]
rs17832359	0.91[EUR][1000 genomes]
rs1815316	0.91[EUR][1000 genomes]
rs1952087	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2075601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs2075602	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][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]
rs2075603	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs2094102	0.94[EUR][1000 genomes]
rs2147964	1.00[YRI][hapmap]
rs2147972	0.91[EUR][1000 genomes]
rs2274273	0.88[CEU][hapmap]
rs2340921	1.00[YRI][hapmap]
rs2340931	0.93[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2341621	0.92[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2341622	0.88[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs28429419	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3818451	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3825613	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs4644	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs4652	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56660630	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57970196	0.91[EUR][1000 genomes]
rs60972460	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61508494	0.94[EUR][1000 genomes]
rs6573005	0.94[EUR][1000 genomes]
rs6573006	0.94[EUR][1000 genomes]
rs6573007	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6573009	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6573010	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6573013	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs6573014	0.92[CEU][hapmap];0.85[AMR][1000 genomes]
rs6573017	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs66871576	0.91[EUR][1000 genomes]
rs67098772	0.91[EUR][1000 genomes]
rs67756714	0.91[EUR][1000 genomes]
rs67805055	0.91[EUR][1000 genomes]
rs7140872	0.91[EUR][1000 genomes]
rs7142704	0.92[EUR][1000 genomes]
rs7142857	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7144292	0.89[AMR][1000 genomes]
rs7146748	0.80[AMR][1000 genomes]
rs7146752	0.84[AMR][1000 genomes]
rs7147106	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7154889	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs7158768	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs7159808	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7160110	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs7160523	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72718804	0.89[EUR][1000 genomes]
rs7493394	0.91[EUR][1000 genomes]
rs8007614	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes]
rs8007620	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.92[EUR][1000 genomes]
rs8007944	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8009670	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8011834	0.94[EUR][1000 genomes]
rs8013027	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs8018110	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8019978	1.00[YRI][hapmap]
rs8021583	0.92[CEU][hapmap]
rs8023197	0.92[CEU][hapmap];1.00[YRI][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8004787	RP11-665C16.6	cis	Muscle Skeletal	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55597000-55613000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:55597200-55607400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:55598400-55607600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:55598400-55613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:55598600-55607800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:55598600-55656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:55598800-55610800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:55598800-55611800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr14:55598800-55613000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr14:55599200-55607600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:55600200-55613200	Weak transcription	Psoas Muscle	Psoas
12	chr14:55600600-55611600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:55600800-55609400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:55601600-55610800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:55602600-55613800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:55603200-55607600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:55603200-55615400	Strong transcription	Hela-S3	cervix
18	chr14:55604000-55636400	Strong transcription	Fetal Thymus	thymus
19	chr14:55604200-55613000	Weak transcription	Liver	Liver
20	chr14:55604400-55607400	Weak transcription	Pancreas	Pancrea
21	chr14:55604400-55608200	Genic enhancers	Fetal Intestine Small	intestine
22	chr14:55604400-55608400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:55604400-55610400	Genic enhancers	Fetal Intestine Large	intestine
24	chr14:55604400-55611800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:55604400-55615600	Strong transcription	HSMM	muscle
26	chr14:55604400-55615800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr14:55604400-55620800	Weak transcription	K562	blood
28	chr14:55604600-55609600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:55604600-55611000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:55604600-55613400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:55604600-55613400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:55604600-55615200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:55604600-55615400	Strong transcription	NHEK	skin
34	chr14:55604600-55627800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:55604800-55607600	Weak transcription	Brain Anterior Caudate	brain
36	chr14:55604800-55608800	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr14:55604800-55610200	Strong transcription	GM12878-XiMat	blood
38	chr14:55604800-55614800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr14:55604800-55616200	Strong transcription	HMEC	breast
40	chr14:55604800-55623200	Weak transcription	Brain Germinal Matrix	brain
41	chr14:55605000-55608000	Strong transcription	Fetal Stomach	stomach
42	chr14:55605000-55609800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr14:55605000-55611800	Strong transcription	Colonic Mucosa	Colon
44	chr14:55605000-55612000	Strong transcription	HSMMtube	muscle
45	chr14:55605000-55613400	Strong transcription	Placenta	Placenta
46	chr14:55605000-55614200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:55605000-55614200	Strong transcription	Thymus	Thymus
48	chr14:55605000-55614600	Strong transcription	NHDF-Ad	bronchial
49	chr14:55605000-55614800	Strong transcription	NH-A	brain
50	chr14:55605000-55616600	Strong transcription	Osteobl	bone

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