Variant report

Variant	rs824690
Chromosome Location	chr12:42513100-42513101
allele	C/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]
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	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1683199	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1683203	1.00[EUR][1000 genomes]
rs1688846	1.00[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]
rs2639131	1.00[EUR][1000 genomes]
rs56220552	1.00[EUR][1000 genomes]
rs57435495	1.00[EUR][1000 genomes]
rs59909142	1.00[EUR][1000 genomes]
rs7305651	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]
rs73283799	1.00[EUR][1000 genomes]
rs73285617	1.00[EUR][1000 genomes]
rs73285619	1.00[EUR][1000 genomes]
rs73285621	1.00[EUR][1000 genomes]
rs73285641	1.00[EUR][1000 genomes]
rs74077430	1.00[EUR][1000 genomes]
rs7970895	1.00[EUR][1000 genomes]
rs824696	0.94[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	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824723	1.00[EUR][1000 genomes]
rs824725	1.00[EUR][1000 genomes]
rs824727	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824729	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824731	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824732	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824733	1.00[EUR][1000 genomes]
rs824735	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824737	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs844045	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs850964	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs850965	1.00[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	nsv983314	chr12:42511511-42513653	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
2	chr12:42474600-42514400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:42474600-42518800	Weak transcription	Brain Anterior Caudate	brain
4	chr12:42476000-42524400	Weak transcription	Gastric	stomach
5	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
6	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix
7	chr12:42484400-42524800	Weak transcription	Right Ventricle	heart
8	chr12:42488600-42518600	Weak transcription	Fetal Brain Male	brain
9	chr12:42492200-42518600	Weak transcription	K562	blood
10	chr12:42493000-42524400	Weak transcription	Brain Substantia Nigra	brain
11	chr12:42493000-42534400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:42493200-42518400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:42493200-42519200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:42497200-42518800	Weak transcription	Psoas Muscle	Psoas
15	chr12:42499000-42516800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:42499400-42518800	Weak transcription	Fetal Kidney	kidney
17	chr12:42501000-42518800	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:42504800-42514600	Weak transcription	Spleen	Spleen
19	chr12:42505600-42516800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:42505800-42515200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:42505800-42518400	Weak transcription	Fetal Intestine Small	intestine
22	chr12:42505800-42518800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:42505800-42518800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:42505800-42518800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:42505800-42522400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:42505800-42537000	Weak transcription	Fetal Stomach	stomach
27	chr12:42505800-42537000	Weak transcription	Lung	lung
28	chr12:42507400-42515200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:42508400-42524600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:42508800-42517000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:42509600-42519400	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:42509800-42513600	Weak transcription	Colonic Mucosa	Colon
33	chr12:42509800-42518600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:42509800-42518800	Weak transcription	Brain Germinal Matrix	brain
35	chr12:42510000-42518800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:42510800-42514000	Weak transcription	Fetal Thymus	thymus
37	chr12:42511000-42518800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:42511200-42513200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:42511200-42519000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:42511400-42513200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:42511400-42513200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:42511400-42513200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:42511400-42513200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:42511400-42513200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:42511400-42513200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:42511400-42513200	Strong transcription	Dnd41	blood
47	chr12:42511400-42513400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:42511600-42513200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:42511600-42513600	Enhancers	NHDF-Ad	bronchial
50	chr12:42511600-42518800	Weak transcription	NHEK	skin

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