Variant report

Variant	rs1628339
Chromosome Location	chr12:42489156-42489157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42488035..42489890-chr12:42495880..42498709,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:76)

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]
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]
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]
rs824729	1.00[AFR][1000 genomes];1.00[EUR][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:3 , 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
3	esv2025559	chr12:42481619-42491335	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42468400-42490200	Weak transcription	Spleen	Spleen
2	chr12:42469400-42491800	Weak transcription	Ovary	ovary
3	chr12:42470600-42491400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:42471000-42504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
6	chr12:42474000-42496000	Weak transcription	Fetal Intestine Large	intestine
7	chr12:42474200-42490600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:42474600-42514400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:42474600-42518800	Weak transcription	Brain Anterior Caudate	brain
10	chr12:42474800-42491800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:42475000-42491800	Weak transcription	Brain Substantia Nigra	brain
12	chr12:42476000-42524400	Weak transcription	Gastric	stomach
13	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
14	chr12:42476400-42489800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix
16	chr12:42477600-42490400	Weak transcription	Thymus	Thymus
17	chr12:42478000-42505000	Weak transcription	Lung	lung
18	chr12:42478400-42489600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:42478600-42511600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:42479200-42496800	Weak transcription	Psoas Muscle	Psoas
21	chr12:42479600-42505400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:42479800-42489600	Weak transcription	Fetal Thymus	thymus
23	chr12:42480000-42489400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:42480000-42492400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:42480200-42489400	Weak transcription	Dnd41	blood
26	chr12:42480200-42489800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:42480200-42492000	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:42480200-42505600	Weak transcription	Fetal Lung	lung
29	chr12:42480200-42512000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:42480600-42491600	Weak transcription	Fetal Heart	heart
31	chr12:42480600-42504600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:42481400-42490000	Weak transcription	Liver	Liver
33	chr12:42481600-42491200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr12:42481800-42491400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:42482200-42489800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:42483000-42502800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:42483200-42499200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:42483600-42511400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr12:42484200-42504000	Weak transcription	Placenta	Placenta
40	chr12:42484400-42524800	Weak transcription	Right Ventricle	heart
41	chr12:42484600-42489200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:42484600-42491000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:42484600-42498800	Weak transcription	Fetal Kidney	kidney
44	chr12:42484800-42496200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr12:42484800-42497400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:42485000-42489800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:42485000-42491800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:42485000-42491800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:42485000-42504000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:42485200-42511600	Weak transcription	NHDF-Ad	bronchial

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