Variant report

Variant	rs17139387
Chromosome Location	chr7:116781278-116781279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116768426..116770966-chr7:116780853..116782813,2	K562	blood:
2	chr7:116775590..116781476-chr7:116782578..116788226,8	K562	blood:
3	chr7:116779872..116782522-chr7:116782805..116785259,2	MCF-7	breast:
4	chr7:116779755..116782085-chr7:116794816..116797751,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226367	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10224047	1.00[ASN][1000 genomes]
rs10224794	0.87[YRI][hapmap]
rs10224800	0.97[ASN][1000 genomes]
rs10228205	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235357	1.00[ASN][1000 genomes]
rs10253112	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10260273	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10260934	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10262380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269684	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10270156	1.00[ASN][1000 genomes]
rs10270160	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278192	1.00[ASN][1000 genomes]
rs10280789	1.00[CEU][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487358	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12333554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12333994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12666031	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs12670227	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12671521	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153015	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs153016	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17139390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs171552	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs171553	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs173496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs185187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs192238	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs193555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193556	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs193557	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193559	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193562	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs193563	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193566	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193567	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs193568	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs193569	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs193570	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2188692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2214167	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2402154	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2402155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2402156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2402157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2402158	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2402159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28481622	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28626669	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3808215	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3824031	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38861	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38863	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38864	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38865	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38867	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38870	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38871	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38873	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs38875	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs38876	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38877	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38879	0.91[ASN][1000 genomes]
rs38880	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38881	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38884	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38886	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38887	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38888	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs38889	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57238791	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57518803	1.00[ASN][1000 genomes]
rs57609520	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57778199	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60653618	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66535855	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66668879	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67039230	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67452319	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68189831	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6966117	0.94[ASN][1000 genomes]
rs6976661	0.90[ASN][1000 genomes]
rs73211912	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs739556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9784960	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9785047	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116754200-116797400	Weak transcription	Fetal Stomach	stomach
2	chr7:116765000-116782000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:116765000-116783000	Weak transcription	Fetal Intestine Small	intestine
4	chr7:116765000-116790200	Weak transcription	Psoas Muscle	Psoas
5	chr7:116765000-116792400	Weak transcription	Fetal Kidney	kidney
6	chr7:116765000-116797200	Weak transcription	Pancreas	Pancrea
7	chr7:116765400-116784200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:116765400-116791800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr7:116765400-116798000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:116765600-116783000	Weak transcription	HepG2	liver
11	chr7:116767000-116797400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:116767200-116797200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:116767600-116797200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:116771200-116783400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:116773000-116791600	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:116773600-116783400	Weak transcription	NHEK	skin
17	chr7:116773600-116797000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:116773800-116783200	Weak transcription	HMEC	breast
19	chr7:116774800-116783200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:116775000-116783000	Weak transcription	Spleen	Spleen
21	chr7:116775000-116786400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:116775200-116782800	Weak transcription	Lung	lung
23	chr7:116775200-116783000	Weak transcription	NH-A	brain
24	chr7:116775200-116790800	Weak transcription	Fetal Brain Male	brain
25	chr7:116775200-116791800	Weak transcription	Small Intestine	intestine
26	chr7:116775400-116783200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:116775400-116784000	Strong transcription	GM12878-XiMat	blood
28	chr7:116775600-116781800	Weak transcription	Osteobl	bone
29	chr7:116775600-116783600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:116775800-116798000	Weak transcription	Hela-S3	cervix
31	chr7:116776000-116783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:116776200-116788800	Weak transcription	Ovary	ovary
33	chr7:116776200-116797000	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:116776200-116797200	Weak transcription	Gastric	stomach
35	chr7:116776400-116781600	Weak transcription	Left Ventricle	heart
36	chr7:116776400-116783200	Weak transcription	A549	lung
37	chr7:116776400-116786400	Weak transcription	Brain Anterior Caudate	brain
38	chr7:116776400-116797200	Weak transcription	NHLF	lung
39	chr7:116776400-116830200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:116776600-116781600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:116776600-116792400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:116776600-116792600	Weak transcription	Brain Angular Gyrus	brain
43	chr7:116776600-116797000	Weak transcription	HSMM	muscle
44	chr7:116776600-116797400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr7:116776800-116781400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr7:116776800-116789400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr7:116777000-116781600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:116777000-116784000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr7:116777200-116781800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:116777200-116783800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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