Variant report

Variant	rs73077530
Chromosome Location	chr12:29379049-29379050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11050001	1.00[EUR][1000 genomes]
rs11050015	1.00[EUR][1000 genomes]
rs11050022	1.00[EUR][1000 genomes]
rs11050023	1.00[EUR][1000 genomes]
rs11050031	1.00[EUR][1000 genomes]
rs11050102	1.00[EUR][1000 genomes]
rs11050109	1.00[EUR][1000 genomes]
rs11050127	1.00[EUR][1000 genomes]
rs11050130	1.00[EUR][1000 genomes]
rs11050131	1.00[EUR][1000 genomes]
rs11834972	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12298807	1.00[EUR][1000 genomes]
rs12299296	1.00[EUR][1000 genomes]
rs12302693	1.00[EUR][1000 genomes]
rs12305640	1.00[EUR][1000 genomes]
rs12305958	1.00[EUR][1000 genomes]
rs12306317	1.00[EUR][1000 genomes]
rs12308307	1.00[EUR][1000 genomes]
rs12309725	1.00[EUR][1000 genomes]
rs12311253	1.00[EUR][1000 genomes]
rs12313631	1.00[EUR][1000 genomes]
rs12314772	1.00[EUR][1000 genomes]
rs12315253	1.00[EUR][1000 genomes]
rs12315255	1.00[EUR][1000 genomes]
rs12316813	1.00[EUR][1000 genomes]
rs12318343	1.00[EUR][1000 genomes]
rs12319491	1.00[EUR][1000 genomes]
rs12319668	1.00[EUR][1000 genomes]
rs12322477	1.00[EUR][1000 genomes]
rs56235020	1.00[EUR][1000 genomes]
rs59858313	1.00[EUR][1000 genomes]
rs67200761	1.00[EUR][1000 genomes]
rs73061899	1.00[EUR][1000 genomes]
rs73063608	1.00[EUR][1000 genomes]
rs73063634	1.00[EUR][1000 genomes]
rs73063636	1.00[EUR][1000 genomes]
rs73063639	1.00[EUR][1000 genomes]
rs73063778	1.00[EUR][1000 genomes]
rs73063781	1.00[EUR][1000 genomes]
rs73063782	1.00[EUR][1000 genomes]
rs73063783	1.00[EUR][1000 genomes]
rs73065614	1.00[EUR][1000 genomes]
rs73065622	1.00[EUR][1000 genomes]
rs73065637	1.00[EUR][1000 genomes]
rs73067717	1.00[EUR][1000 genomes]
rs73067752	1.00[EUR][1000 genomes]
rs73071945	1.00[EUR][1000 genomes]
rs73071951	1.00[EUR][1000 genomes]
rs73071976	1.00[EUR][1000 genomes]
rs73071996	1.00[EUR][1000 genomes]
rs73073756	1.00[EUR][1000 genomes]
rs73073757	1.00[EUR][1000 genomes]
rs73073797	1.00[EUR][1000 genomes]
rs73073798	1.00[EUR][1000 genomes]
rs73075593	1.00[EUR][1000 genomes]
rs73077508	1.00[EUR][1000 genomes]
rs73077524	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73077528	1.00[EUR][1000 genomes]
rs73077591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73077595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73079508	1.00[EUR][1000 genomes]
rs73079510	1.00[EUR][1000 genomes]
rs73079530	1.00[EUR][1000 genomes]
rs7966961	1.00[EUR][1000 genomes]
rs7980369	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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29360400-29381000	Weak transcription	HUVEC	blood vessel
2	chr12:29366200-29393200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:29374400-29380200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:29374800-29382800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:29375200-29381000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr12:29376800-29380200	Enhancers	Osteobl	bone
7	chr12:29377000-29381600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:29377000-29385200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:29377200-29379200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:29377800-29379400	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr12:29378200-29381400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:29378400-29379200	Enhancers	Adipose Nuclei	Adipose
13	chr12:29378400-29381000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:29378400-29381600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:29378400-29383200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:29378400-29383200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr12:29378400-29383400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:29378600-29379400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:29378600-29379400	Enhancers	Fetal Intestine Large	intestine
20	chr12:29378600-29379800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:29378600-29381600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:29378800-29379800	Enhancers	NHDF-Ad	bronchial
23	chr12:29378800-29381400	Weak transcription	Placenta	Placenta
24	chr12:29378800-29383200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:29379000-29379400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:29379000-29379600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr12:29379000-29380000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:29379000-29380000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr12:29379000-29380200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:29379000-29380200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:29379000-29382000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:29379000-29388000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:29379000-29393400	Weak transcription	Duodenum Mucosa	Duodenum

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