Variant report

Variant	rs824729
Chromosome Location	chr12:42494457-42494458
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1009721	1.00[EUR][1000 genomes]
rs11118	1.00[EUR][1000 genomes]
rs1157577	1.00[EUR][1000 genomes]
rs11829542	1.00[EUR][1000 genomes]
rs11830248	1.00[EUR][1000 genomes]
rs11836064	1.00[EUR][1000 genomes]
rs1233989	1.00[EUR][1000 genomes]
rs1233991	1.00[EUR][1000 genomes]
rs1233993	1.00[EUR][1000 genomes]
rs1234007	1.00[EUR][1000 genomes]
rs1234031	1.00[EUR][1000 genomes]
rs1234041	1.00[EUR][1000 genomes]
rs1234103	1.00[EUR][1000 genomes]
rs1238283	1.00[EUR][1000 genomes]
rs1626596	1.00[EUR][1000 genomes]
rs1628339	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1683199	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1683203	1.00[EUR][1000 genomes]
rs1688846	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1688876	1.00[EUR][1000 genomes]
rs17091023	1.00[EUR][1000 genomes]
rs1873684	1.00[EUR][1000 genomes]
rs1920698	1.00[EUR][1000 genomes]
rs2639131	1.00[EUR][1000 genomes]
rs56220552	1.00[EUR][1000 genomes]
rs57435495	1.00[EUR][1000 genomes]
rs58689889	1.00[EUR][1000 genomes]
rs59909142	1.00[EUR][1000 genomes]
rs7305651	1.00[EUR][1000 genomes]
rs73276375	1.00[EUR][1000 genomes]
rs73276381	1.00[EUR][1000 genomes]
rs73276390	1.00[EUR][1000 genomes]
rs73276399	1.00[EUR][1000 genomes]
rs73278206	1.00[EUR][1000 genomes]
rs73278217	1.00[EUR][1000 genomes]
rs73278222	1.00[EUR][1000 genomes]
rs73278223	1.00[EUR][1000 genomes]
rs73278224	1.00[EUR][1000 genomes]
rs73278227	1.00[EUR][1000 genomes]
rs73278230	1.00[EUR][1000 genomes]
rs73278244	1.00[EUR][1000 genomes]
rs73278291	1.00[EUR][1000 genomes]
rs73280009	1.00[EUR][1000 genomes]
rs73280011	1.00[EUR][1000 genomes]
rs73281814	1.00[EUR][1000 genomes]
rs73281820	1.00[EUR][1000 genomes]
rs73281838	1.00[EUR][1000 genomes]
rs73281851	1.00[EUR][1000 genomes]
rs73281860	1.00[EUR][1000 genomes]
rs73281880	1.00[EUR][1000 genomes]
rs73281886	1.00[EUR][1000 genomes]
rs73281894	1.00[EUR][1000 genomes]
rs73283707	1.00[EUR][1000 genomes]
rs73283734	1.00[EUR][1000 genomes]
rs73283759	1.00[EUR][1000 genomes]
rs73283792	1.00[EUR][1000 genomes]
rs74077430	1.00[EUR][1000 genomes]
rs7970895	1.00[EUR][1000 genomes]
rs824690	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824696	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824698	1.00[EUR][1000 genomes]
rs824715	1.00[EUR][1000 genomes]
rs824719	1.00[EUR][1000 genomes]
rs824720	1.00[EUR][1000 genomes]
rs824721	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824723	1.00[EUR][1000 genomes]
rs824725	1.00[EUR][1000 genomes]
rs824727	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824728	0.82[AFR][1000 genomes]
rs824731	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824732	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824733	1.00[EUR][1000 genomes]
rs824735	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824737	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs844045	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs850964	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs850965	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1047830	chr12:42466192-42497603	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42471000-42504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
3	chr12:42474000-42496000	Weak transcription	Fetal Intestine Large	intestine
4	chr12:42474600-42514400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:42474600-42518800	Weak transcription	Brain Anterior Caudate	brain
6	chr12:42476000-42524400	Weak transcription	Gastric	stomach
7	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
8	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix
9	chr12:42478000-42505000	Weak transcription	Lung	lung
10	chr12:42478600-42511600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:42479200-42496800	Weak transcription	Psoas Muscle	Psoas
12	chr12:42479600-42505400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:42480200-42505600	Weak transcription	Fetal Lung	lung
14	chr12:42480200-42512000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:42480600-42504600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:42483000-42502800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:42483200-42499200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:42483600-42511400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:42484200-42504000	Weak transcription	Placenta	Placenta
20	chr12:42484400-42524800	Weak transcription	Right Ventricle	heart
21	chr12:42484600-42498800	Weak transcription	Fetal Kidney	kidney
22	chr12:42484800-42496200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr12:42484800-42497400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:42485000-42504000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:42485200-42511600	Weak transcription	NHDF-Ad	bronchial
26	chr12:42485600-42498400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:42485800-42501400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:42485800-42512200	Weak transcription	Brain Angular Gyrus	brain
29	chr12:42486000-42513000	Weak transcription	Aorta	Aorta
30	chr12:42487000-42496800	Weak transcription	Colonic Mucosa	Colon
31	chr12:42488200-42505400	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:42488400-42504400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:42488400-42504400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:42488400-42504800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:42488400-42504800	Weak transcription	Fetal Intestine Small	intestine
36	chr12:42488400-42505000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:42488400-42512000	Weak transcription	Osteobl	bone
38	chr12:42488600-42505000	Weak transcription	Fetal Stomach	stomach
39	chr12:42488600-42518600	Weak transcription	Fetal Brain Male	brain
40	chr12:42488800-42511800	Weak transcription	HepG2	liver
41	chr12:42490800-42506600	Weak transcription	NH-A	brain
42	chr12:42490800-42511200	Weak transcription	HSMM	muscle
43	chr12:42491200-42499200	Weak transcription	Liver	Liver
44	chr12:42491400-42497200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:42491400-42498200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:42491400-42504800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:42491400-42511200	Weak transcription	A549	lung
48	chr12:42491800-42499800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:42492000-42498400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:42492000-42504400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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