Variant report

Variant	rs17239187
Chromosome Location	chr15:57374657-57374658
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	chr15:57373645..57376211-chr15:57382766..57385379,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs12437753	1.00[AFR][1000 genomes]
rs12437777	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12438151	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12438244	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12438428	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12438464	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12438893	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12439010	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12439017	1.00[AFR][1000 genomes]
rs12439149	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12439165	1.00[AFR][1000 genomes]
rs12439266	0.82[AMR][1000 genomes]
rs12439547	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12439994	1.00[AFR][1000 genomes]
rs12440036	1.00[AFR][1000 genomes]
rs12440116	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12440245	1.00[AFR][1000 genomes]
rs12440699	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12440725	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12440729	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12440790	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12440878	1.00[CEU][hapmap]
rs12440891	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12441185	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs12441200	1.00[CEU][hapmap]
rs12441239	1.00[AFR][1000 genomes]
rs12441263	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12441888	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12441892	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12442042	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12442238	1.00[AFR][1000 genomes]
rs12442326	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12442521	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12442642	1.00[AFR][1000 genomes]
rs12442662	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12442839	1.00[AFR][1000 genomes]
rs12442879	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12443085	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12443125	1.00[AFR][1000 genomes]
rs1462157	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1529597	1.00[AFR][1000 genomes]
rs16977170	1.00[CEU][hapmap]
rs16977201	1.00[CEU][hapmap]
rs17238950	1.00[AFR][1000 genomes]
rs17238971	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs17238992	1.00[AFR][1000 genomes]
rs17239020	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17239047	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17239068	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17239089	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17239208	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17239215	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17239313	0.88[EUR][1000 genomes]
rs17819646	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs17819658	1.00[AFR][1000 genomes]
rs17819664	1.00[AFR][1000 genomes]
rs17819694	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17819755	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17819779	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17819809	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17819839	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17819886	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17819946	1.00[AFR][1000 genomes]
rs17819994	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17820006	0.88[EUR][1000 genomes]
rs17820119	1.00[CEU][hapmap]
rs1816322	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2126398	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2414496	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4320591	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4362334	1.00[AFR][1000 genomes]
rs4514619	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8031866	1.00[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57324600-57398600	Weak transcription	Fetal Muscle Leg	muscle
2	chr15:57353800-57406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:57354200-57384600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:57356000-57393400	Weak transcription	Thymus	Thymus
5	chr15:57362800-57384200	Weak transcription	HepG2	liver
6	chr15:57363800-57378200	Weak transcription	Gastric	stomach
7	chr15:57363800-57382000	Weak transcription	Right Atrium	heart
8	chr15:57365200-57384000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:57365600-57385200	Weak transcription	HSMM	muscle
10	chr15:57365800-57384000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:57368000-57380400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:57371600-57375000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr15:57371600-57375200	Enhancers	HUVEC	blood vessel
14	chr15:57371800-57374800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr15:57371800-57375000	Enhancers	K562	blood
16	chr15:57371800-57382400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:57372000-57384000	Weak transcription	Dnd41	blood
18	chr15:57372400-57375200	Enhancers	Fetal Heart	heart
19	chr15:57372600-57375000	Enhancers	Duodenum Mucosa	Duodenum
20	chr15:57372600-57375000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr15:57372600-57386000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr15:57372600-57404000	Weak transcription	HSMMtube	muscle
23	chr15:57372600-57404200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr15:57372800-57374800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:57372800-57375000	Enhancers	Primary hematopoietic stem cells	blood
26	chr15:57372800-57375000	Enhancers	Brain Cingulate Gyrus	brain
27	chr15:57372800-57375000	Enhancers	Fetal Lung	lung
28	chr15:57372800-57379000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:57372800-57380800	Weak transcription	Right Ventricle	heart
30	chr15:57372800-57384000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr15:57372800-57384000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr15:57372800-57384400	Weak transcription	Liver	Liver
33	chr15:57372800-57386000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr15:57372800-57410200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr15:57373000-57374800	Weak transcription	Brain Germinal Matrix	brain
36	chr15:57373000-57376200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr15:57373000-57382000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr15:57373000-57384600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr15:57373000-57385400	Weak transcription	Primary B cells from cord blood	blood
40	chr15:57373200-57374800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr15:57373200-57374800	Enhancers	Fetal Intestine Large	intestine
42	chr15:57373200-57377600	Weak transcription	Brain Angular Gyrus	brain
43	chr15:57373200-57381400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr15:57373200-57384200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr15:57373200-57384600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr15:57373400-57375000	Enhancers	Fetal Intestine Small	intestine
47	chr15:57373400-57378000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr15:57373800-57375000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr15:57374000-57374800	Enhancers	Osteobl	bone
50	chr15:57374000-57375000	Enhancers	Hela-S3	cervix

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