Variant report

Variant	rs514152
Chromosome Location	chr15:40255156-40255157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40249478..40251970-chr15:40252584..40255230,2	K562	blood:
2	chr15:40249084..40251970-chr15:40253423..40255230,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11070241	0.83[JPT][hapmap]
rs12441486	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12591670	0.83[JPT][hapmap]
rs12901892	0.83[JPT][hapmap]
rs1436276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1436278	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1689605	0.88[CHD][hapmap];0.85[GIH][hapmap]
rs16970030	1.00[CEU][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16970033	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.81[MEX][hapmap];0.84[MKK][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16970098	1.00[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16970132	1.00[GIH][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2196470	0.88[CEU][hapmap];0.89[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2307105	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2307106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2307107	1.00[CEU][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2640645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369403	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28619481	0.85[AMR][1000 genomes]
rs35390951	0.88[CHD][hapmap]
rs3765127	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4566130	0.82[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs472027	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs479500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs503671	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs509200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510949	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518802	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165105	1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7170569	1.00[CEU][hapmap];0.80[CHB][hapmap];0.87[JPT][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7174767	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7178419	0.83[JPT][hapmap]
rs72729459	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72729462	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72729469	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72729490	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72729494	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8029465	1.00[CEU][hapmap];0.80[JPT][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8036381	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8036388	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9888665	0.85[AMR][1000 genomes];0.84[EUR][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40227200-40268400	Weak transcription	Esophagus	oesophagus
2	chr15:40227400-40283400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:40227800-40268400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:40230000-40263000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr15:40230200-40255600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr15:40230400-40261600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:40231000-40268400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr15:40232000-40261400	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr15:40232000-40262600	Strong transcription	Liver	Liver
11	chr15:40235000-40263000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:40236000-40255400	Strong transcription	Fetal Lung	lung
13	chr15:40236000-40260000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr15:40236600-40303000	Weak transcription	Small Intestine	intestine
15	chr15:40237800-40255600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr15:40238000-40277800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr15:40238600-40268200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr15:40238600-40272200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:40238800-40273200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:40239200-40259600	Weak transcription	Fetal Brain Male	brain
21	chr15:40239400-40261200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:40239400-40262000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:40239600-40261400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:40239800-40262200	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr15:40240200-40261000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:40240800-40268000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:40241000-40268600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr15:40241200-40272600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:40241400-40256000	Strong transcription	Primary T cells from cord blood	blood
30	chr15:40241400-40260800	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr15:40241400-40262800	Strong transcription	Fetal Intestine Large	intestine
32	chr15:40241800-40259800	Weak transcription	Stomach Mucosa	stomach
33	chr15:40242600-40255600	Strong transcription	Fetal Muscle Leg	muscle
34	chr15:40243200-40262600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr15:40245200-40256200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr15:40245600-40255400	Strong transcription	Brain Hippocampus Middle	brain
37	chr15:40245600-40256400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr15:40245600-40258200	Strong transcription	Primary B cells from cord blood	blood
39	chr15:40245600-40258600	Strong transcription	Brain Anterior Caudate	brain
40	chr15:40245600-40258600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr15:40245600-40258600	Strong transcription	Dnd41	blood
42	chr15:40245600-40262000	Strong transcription	HSMM	muscle
43	chr15:40246000-40258600	Strong transcription	HMEC	breast
44	chr15:40246000-40261000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:40246200-40255400	Strong transcription	NHEK	skin
46	chr15:40246200-40257800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:40246600-40255600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr15:40247400-40261800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:40247800-40260200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr15:40248200-40258800	Weak transcription	Fetal Heart	heart

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