Variant report

Variant	rs7294849
Chromosome Location	chr12:122867870-122867871
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	chr12:122867510..122870317-chr12:122976992..122978629,2	K562	blood:
2	chr12:122867679..122870337-chr12:122873769..122876050,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1001178	1.00[EUR][1000 genomes]
rs12310939	1.00[EUR][1000 genomes]
rs28439749	1.00[EUR][1000 genomes]
rs28536732	1.00[EUR][1000 genomes]
rs28579554	1.00[EUR][1000 genomes]
rs55639239	1.00[EUR][1000 genomes]
rs56229172	1.00[EUR][1000 genomes]
rs56276573	1.00[EUR][1000 genomes]
rs58044975	1.00[EUR][1000 genomes]
rs58583917	1.00[EUR][1000 genomes]
rs58865449	1.00[EUR][1000 genomes]
rs58928984	1.00[EUR][1000 genomes]
rs59638725	1.00[EUR][1000 genomes]
rs60425908	1.00[EUR][1000 genomes]
rs60595657	1.00[EUR][1000 genomes]
rs61140498	0.86[EUR][1000 genomes]
rs7134462	1.00[EUR][1000 genomes]
rs7135931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7294427	1.00[EUR][1000 genomes]
rs7304287	1.00[EUR][1000 genomes]
rs7305870	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404008	1.00[EUR][1000 genomes]
rs73404018	1.00[EUR][1000 genomes]
rs73404020	1.00[EUR][1000 genomes]
rs73404029	1.00[EUR][1000 genomes]
rs73404037	1.00[EUR][1000 genomes]
rs73404045	1.00[EUR][1000 genomes]
rs73404046	1.00[EUR][1000 genomes]
rs73404065	1.00[EUR][1000 genomes]
rs73405849	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73405864	1.00[EUR][1000 genomes]
rs73421714	1.00[EUR][1000 genomes]
rs73421719	1.00[EUR][1000 genomes]
rs73421737	1.00[EUR][1000 genomes]
rs73421739	1.00[EUR][1000 genomes]
rs73421744	1.00[EUR][1000 genomes]
rs73421747	1.00[EUR][1000 genomes]
rs73421765	1.00[EUR][1000 genomes]
rs7952820	1.00[EUR][1000 genomes]
rs9971771	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122838000-122868000	Weak transcription	Fetal Lung	lung
2	chr12:122839600-122871000	Weak transcription	Fetal Kidney	kidney
3	chr12:122841000-122872600	Weak transcription	Fetal Brain Male	brain
4	chr12:122846000-122883800	Weak transcription	Aorta	Aorta
5	chr12:122852000-122869800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:122852000-122869800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:122852200-122869800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:122852200-122870200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:122853200-122868600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:122853800-122868600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:122853800-122869000	Strong transcription	Placenta	Placenta
12	chr12:122854200-122868000	Strong transcription	Fetal Stomach	stomach
13	chr12:122854200-122868600	Weak transcription	Stomach Mucosa	stomach
14	chr12:122854600-122868000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:122856400-122884200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:122856600-122877000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:122856600-122878200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:122857600-122868000	Weak transcription	Brain Angular Gyrus	brain
19	chr12:122860000-122869800	Weak transcription	Fetal Heart	heart
20	chr12:122860600-122905000	Weak transcription	Brain Germinal Matrix	brain
21	chr12:122862200-122870000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:122862400-122869800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:122862400-122869800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:122862400-122876400	Weak transcription	Pancreas	Pancrea
25	chr12:122862400-122878600	Weak transcription	Primary B cells from cord blood	blood
26	chr12:122862400-122883800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:122862600-122869800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:122862600-122873400	Weak transcription	NH-A	brain
29	chr12:122862600-122879400	Weak transcription	NHLF	lung
30	chr12:122862600-122881600	Weak transcription	Thymus	Thymus
31	chr12:122862600-122883800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:122862800-122895600	Weak transcription	Small Intestine	intestine
33	chr12:122863000-122869600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:122863000-122876800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:122863000-122879400	Weak transcription	Osteobl	bone
36	chr12:122863000-122883600	Weak transcription	K562	blood
37	chr12:122863000-122883800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:122863200-122869800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:122863200-122879400	Weak transcription	NHDF-Ad	bronchial
40	chr12:122863200-122883800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:122863400-122869800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:122863400-122869800	Weak transcription	A549	lung
43	chr12:122863400-122876600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:122863400-122883800	Weak transcription	Brain Anterior Caudate	brain
45	chr12:122863400-122884000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr12:122863400-122884200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:122863400-122884600	Weak transcription	Ovary	ovary
48	chr12:122863400-122897400	Weak transcription	Fetal Brain Female	brain
49	chr12:122863400-122897800	Weak transcription	Brain Substantia Nigra	brain
50	chr12:122863800-122873400	Weak transcription	NHEK	skin

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