Variant report

Variant	rs12604983
Chromosome Location	chr18:43996428-43996429
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12607113	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12607419	0.81[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs12607488	0.83[EUR][1000 genomes]
rs34223668	0.83[EUR][1000 genomes]
rs34229367	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35178576	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35308870	0.83[EUR][1000 genomes]
rs36071668	0.86[EUR][1000 genomes]
rs3861807	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3861808	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3911129	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4890326	0.83[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4890649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4890650	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4890651	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56126321	0.83[EUR][1000 genomes]
rs56267717	0.83[EUR][1000 genomes]
rs71364535	0.82[EUR][1000 genomes]
rs71364536	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7235217	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12604983	RNF165	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43985200-43997000	Enhancers	Fetal Muscle Leg	muscle
2	chr18:43985200-43997400	Enhancers	Left Ventricle	heart
3	chr18:43985200-43997800	Enhancers	Right Ventricle	heart
4	chr18:43985200-44000600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr18:43989800-43999000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr18:43991000-43996800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:43991000-43997000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr18:43991200-43997000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr18:43991200-43997200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr18:43992600-44001600	Weak transcription	Fetal Thymus	thymus
11	chr18:43992800-43998400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:43993000-43998400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr18:43993200-43998400	Weak transcription	HMEC	breast
14	chr18:43993400-43997000	Weak transcription	Dnd41	blood
15	chr18:43993400-43998400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr18:43993400-43998600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr18:43993600-43997600	Weak transcription	Ovary	ovary
18	chr18:43993600-43998200	Weak transcription	Liver	Liver
19	chr18:43993600-43999000	Weak transcription	Brain Angular Gyrus	brain
20	chr18:43994000-43996800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr18:43994000-43998400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:43994200-43998400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr18:43994200-43998400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr18:43994200-43998400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr18:43994200-43999000	Weak transcription	Brain Germinal Matrix	brain
26	chr18:43994200-44011600	Weak transcription	Fetal Brain Female	brain
27	chr18:43994400-43996600	Enhancers	Adipose Nuclei	Adipose
28	chr18:43994400-43998400	Weak transcription	Colon Smooth Muscle	Colon
29	chr18:43994800-43996600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr18:43994800-43998800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr18:43994800-43999000	Weak transcription	Esophagus	oesophagus
32	chr18:43994800-43999200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr18:43994800-44015400	Weak transcription	Fetal Brain Male	brain
34	chr18:43995000-43998400	Weak transcription	Fetal Lung	lung
35	chr18:43995000-43998400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr18:43995000-43998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:43995000-43999000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr18:43995000-43999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr18:43995000-43999000	Weak transcription	Lung	lung
40	chr18:43995200-43997000	Enhancers	Fetal Muscle Trunk	muscle
41	chr18:43995200-43998400	Weak transcription	Fetal Heart	heart
42	chr18:43995200-43998800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr18:43995200-43998800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr18:43995200-43998800	Weak transcription	Fetal Stomach	stomach
45	chr18:43995200-43999000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:43995200-43999000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr18:43995200-43999200	Weak transcription	Right Atrium	heart
48	chr18:43995800-44011600	Weak transcription	Thymus	Thymus
49	chr18:43996000-43997400	Weak transcription	Psoas Muscle	Psoas
50	chr18:43996000-43998600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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