Variant report

Variant	rs10519691
Chromosome Location	chr4:144325021-144325022
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:144323082..144326109-chr4:144328111..144333169,4	K562	blood:
2	chr4:144319058..144322958-chr4:144324653..144327477,4	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1027851	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs11100788	0.82[JPT][hapmap]
rs11100789	0.83[ASN][1000 genomes]
rs11945731	0.82[ASN][1000 genomes]
rs13123498	0.82[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap]
rs1397526	0.85[ASN][1000 genomes]
rs1397528	0.82[CEU][hapmap];0.82[CHB][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs1472873	0.82[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap];0.86[MEX][hapmap]
rs1510879	0.82[ASN][1000 genomes]
rs1510880	0.82[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap]
rs2055730	0.82[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap];0.86[MEX][hapmap]
rs300912	0.86[CHD][hapmap]
rs300913	0.86[CHD][hapmap]
rs300915	0.86[CHD][hapmap]
rs300917	0.81[CHD][hapmap]
rs34095331	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34439737	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3792652	0.82[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap]
rs3805238	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3805247	0.83[CHD][hapmap];0.84[JPT][hapmap]
rs3805249	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs3805251	0.82[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs3805253	0.82[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap]
rs3805254	0.82[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap];0.86[MEX][hapmap]
rs3805256	0.82[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap]
rs3805257	0.86[CHD][hapmap];0.84[JPT][hapmap];0.86[MEX][hapmap]
rs3828512	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs3828513	0.82[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap];0.86[MEX][hapmap]
rs6537155	0.82[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap]
rs713140	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs719392	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs7680959	0.82[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10519691	LOC441046	cis	normal skin	skin_eQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144303400-144326600	Weak transcription	Colonic Mucosa	Colon
2	chr4:144309200-144327600	Weak transcription	Esophagus	oesophagus
3	chr4:144310200-144325600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:144312600-144326400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:144312600-144328600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:144312800-144331400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:144312800-144336800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:144313800-144332000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:144317400-144327600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:144317800-144325800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:144318200-144325600	Weak transcription	Lung	lung
12	chr4:144318200-144327600	Weak transcription	K562	blood
13	chr4:144318200-144337000	Weak transcription	Fetal Intestine Large	intestine
14	chr4:144318200-144362400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:144319200-144336600	Weak transcription	Fetal Kidney	kidney
16	chr4:144320000-144325600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:144320200-144325600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:144320600-144328600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:144320800-144326600	Weak transcription	Stomach Mucosa	stomach
20	chr4:144321000-144327600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:144321600-144325600	Weak transcription	Pancreas	Pancrea
22	chr4:144321800-144330200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:144322200-144334000	Enhancers	Fetal Heart	heart
24	chr4:144323000-144326400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr4:144323200-144335800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:144323400-144327600	Enhancers	Colon Smooth Muscle	Colon
27	chr4:144323400-144328400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr4:144323400-144330400	Enhancers	HUVEC	blood vessel
29	chr4:144323600-144328000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr4:144323600-144328200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:144323600-144328200	Enhancers	Ovary	ovary
32	chr4:144323600-144328600	Enhancers	Liver	Liver
33	chr4:144324000-144326400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr4:144324000-144327000	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr4:144324000-144332400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr4:144324200-144325200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:144324200-144326200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr4:144324200-144326600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr4:144324400-144325800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:144324400-144326600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr4:144324400-144326600	Enhancers	Duodenum Mucosa	Duodenum
42	chr4:144324600-144326000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:144324600-144326800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:144324600-144327600	Weak transcription	Fetal Lung	lung
45	chr4:144324600-144332800	Weak transcription	HSMM	muscle
46	chr4:144324800-144325600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:144324800-144325600	Weak transcription	Fetal Intestine Small	intestine
48	chr4:144324800-144325600	Weak transcription	Spleen	Spleen
49	chr4:144324800-144325600	Weak transcription	HSMMtube	muscle
50	chr4:144324800-144326000	Enhancers	Monocytes-CD14+_RO01746	blood

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