Variant report

Variant	rs17819946
Chromosome Location	chr15:57428671-57428672
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57428236..57433536-chr15:57434011..57440588,9	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12437753	1.00[AFR][1000 genomes]
rs12437777	1.00[AFR][1000 genomes]
rs12438151	1.00[AFR][1000 genomes]
rs12438244	1.00[AFR][1000 genomes]
rs12438428	1.00[AFR][1000 genomes]
rs12438464	1.00[AFR][1000 genomes]
rs12438893	1.00[AFR][1000 genomes]
rs12439010	1.00[AFR][1000 genomes]
rs12439017	1.00[AFR][1000 genomes]
rs12439149	1.00[AFR][1000 genomes]
rs12439165	1.00[AFR][1000 genomes]
rs12439547	1.00[AFR][1000 genomes]
rs12439994	1.00[AFR][1000 genomes]
rs12440036	1.00[AFR][1000 genomes]
rs12440699	1.00[AFR][1000 genomes]
rs12440729	1.00[AFR][1000 genomes]
rs12440790	1.00[AFR][1000 genomes]
rs12441239	1.00[AFR][1000 genomes]
rs12441263	1.00[AFR][1000 genomes]
rs12441888	1.00[AFR][1000 genomes]
rs12441892	1.00[AFR][1000 genomes]
rs12442042	1.00[AFR][1000 genomes]
rs12442238	1.00[AFR][1000 genomes]
rs12442326	1.00[AFR][1000 genomes]
rs12442521	1.00[AFR][1000 genomes]
rs12442879	1.00[AFR][1000 genomes]
rs12443085	1.00[AFR][1000 genomes]
rs1462157	1.00[AFR][1000 genomes]
rs17238971	1.00[AFR][1000 genomes]
rs17238992	1.00[AFR][1000 genomes]
rs17239020	1.00[AFR][1000 genomes]
rs17239047	1.00[AFR][1000 genomes]
rs17239068	1.00[AFR][1000 genomes]
rs17239089	1.00[AFR][1000 genomes]
rs17239187	1.00[AFR][1000 genomes]
rs17239208	1.00[AFR][1000 genomes]
rs17239215	1.00[AFR][1000 genomes]
rs17819694	1.00[AFR][1000 genomes]
rs17819755	1.00[AFR][1000 genomes]
rs17819779	1.00[AFR][1000 genomes]
rs17819809	1.00[AFR][1000 genomes]
rs17819839	1.00[AFR][1000 genomes]
rs17819886	1.00[AFR][1000 genomes]
rs17819994	1.00[AFR][1000 genomes]
rs1816322	1.00[AFR][1000 genomes]
rs2126398	1.00[AFR][1000 genomes]
rs2414496	1.00[AFR][1000 genomes]
rs4320591	1.00[AFR][1000 genomes]
rs4514619	1.00[AFR][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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57387000-57430000	Weak transcription	Placenta	Placenta
2	chr15:57387600-57442400	Weak transcription	Fetal Intestine Large	intestine
3	chr15:57410600-57440800	Weak transcription	Ovary	ovary
4	chr15:57411000-57430400	Weak transcription	NH-A	brain
5	chr15:57413800-57428800	Weak transcription	Gastric	stomach
6	chr15:57415000-57438800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr15:57415600-57438800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr15:57416000-57438800	Weak transcription	Primary B cells from cord blood	blood
9	chr15:57416800-57430800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:57419600-57439000	Weak transcription	Fetal Intestine Small	intestine
11	chr15:57421800-57436600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr15:57422600-57430400	Weak transcription	Fetal Heart	heart
13	chr15:57425600-57432200	Enhancers	Fetal Lung	lung
14	chr15:57425800-57429000	Enhancers	Brain Anterior Caudate	brain
15	chr15:57425800-57429000	Enhancers	Brain Germinal Matrix	brain
16	chr15:57425800-57429200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr15:57425800-57429800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:57425800-57430400	Weak transcription	Right Atrium	heart
19	chr15:57425800-57430400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr15:57425800-57434800	Strong transcription	Fetal Thymus	thymus
21	chr15:57425800-57438800	Weak transcription	HSMM	muscle
22	chr15:57425800-57440800	Weak transcription	Thymus	Thymus
23	chr15:57425800-57442200	Weak transcription	Right Ventricle	heart
24	chr15:57426000-57429000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr15:57426000-57431000	Enhancers	Brain Hippocampus Middle	brain
26	chr15:57426000-57431800	Enhancers	Brain Substantia Nigra	brain
27	chr15:57426200-57432400	Enhancers	Brain Cingulate Gyrus	brain
28	chr15:57426400-57429000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr15:57426800-57428800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:57426800-57430600	Weak transcription	Small Intestine	intestine
31	chr15:57426800-57436200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:57426800-57438400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr15:57427200-57428800	Enhancers	GM12878-XiMat	blood
34	chr15:57427200-57429200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr15:57427200-57440000	Weak transcription	Fetal Stomach	stomach
36	chr15:57427400-57428800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr15:57427400-57429000	Weak transcription	Psoas Muscle	Psoas
38	chr15:57427400-57429400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr15:57427400-57430000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr15:57427400-57430400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr15:57427400-57432600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr15:57427400-57436200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr15:57427400-57439000	Weak transcription	A549	lung
44	chr15:57427400-57442600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr15:57427600-57428800	Enhancers	Fetal Brain Female	brain
46	chr15:57427600-57440600	Weak transcription	Dnd41	blood
47	chr15:57427800-57428800	Enhancers	Colon Smooth Muscle	Colon
48	chr15:57427800-57430200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr15:57428000-57429000	Enhancers	Rectal Smooth Muscle	rectum
50	chr15:57428000-57430000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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