Variant report

Variant	rs13130337
Chromosome Location	chr4:54216119-54216120
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	chr4:54215552..54217782-chr4:54219355..54221752,2	K562	blood:
2	chr4:54212699..54214471-chr4:54216075..54218598,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11721940	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs11724062	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11725172	0.89[ASW][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1383981	0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs1842658	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2200051	0.92[ASN][1000 genomes]
rs2412404	0.91[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap]
rs4588514	0.91[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap]
rs4864749	0.89[ASW][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[YRI][hapmap]
rs4864752	0.89[ASN][1000 genomes]
rs6554071	0.91[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap]
rs6554091	0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6554092	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6554093	0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6821113	0.87[ASN][1000 genomes]
rs6852852	0.88[ASN][1000 genomes]
rs6856562	0.84[ASN][1000 genomes]
rs7683984	0.89[ASW][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.92[YRI][hapmap]
rs900110	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9990771	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9998376	0.95[CHB][hapmap];1.00[JPT][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13130337	NMU	cis	cerebellum	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54169800-54216200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:54170600-54230600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:54188200-54218200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:54188200-54231200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:54201200-54220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:54202200-54226000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:54206600-54220200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:54210400-54225600	Weak transcription	Small Intestine	intestine
9	chr4:54211400-54219200	Weak transcription	Fetal Intestine Small	intestine
10	chr4:54211600-54219600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:54211600-54220200	Weak transcription	Fetal Stomach	stomach
12	chr4:54211800-54217800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:54212000-54220600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:54212000-54227200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:54212200-54220800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:54212400-54217800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:54212600-54219200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:54212800-54219600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr4:54213200-54220200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr4:54213400-54217200	Weak transcription	Liver	Liver
21	chr4:54213600-54216600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:54213600-54228600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:54213800-54218600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr4:54213800-54230400	Weak transcription	Fetal Kidney	kidney
25	chr4:54214000-54218600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:54214000-54218800	Weak transcription	Adipose Nuclei	Adipose
27	chr4:54214000-54219200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:54214000-54221800	Weak transcription	Ovary	ovary
29	chr4:54214000-54230800	Weak transcription	Aorta	Aorta
30	chr4:54214000-54231200	Weak transcription	Lung	lung
31	chr4:54214200-54216200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr4:54214200-54217400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:54214200-54218200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:54214200-54218400	Weak transcription	Primary B cells from cord blood	blood
35	chr4:54214200-54218600	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:54214200-54218800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:54214200-54218800	Weak transcription	Gastric	stomach
38	chr4:54214200-54218800	Weak transcription	Left Ventricle	heart
39	chr4:54214200-54218800	Weak transcription	NHLF	lung
40	chr4:54214200-54219400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:54214200-54219400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:54214200-54220200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:54214200-54221800	Weak transcription	Pancreas	Pancrea
44	chr4:54214200-54221800	Weak transcription	Psoas Muscle	Psoas
45	chr4:54214200-54224000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr4:54214200-54228200	Weak transcription	Esophagus	oesophagus
47	chr4:54214200-54228200	Weak transcription	Fetal Brain Female	brain
48	chr4:54214200-54228200	Weak transcription	NH-A	brain
49	chr4:54214200-54228800	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:54214200-54229000	Weak transcription	HUVEC	blood vessel

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