Variant report

Variant	rs11050130
Chromosome Location	chr12:29365690-29365691
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11050001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050015	1.00[EUR][1000 genomes]
rs11050022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834972	1.00[EUR][1000 genomes]
rs12298807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12302693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12304835	0.83[AFR][1000 genomes]
rs12305640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305958	1.00[EUR][1000 genomes]
rs12306317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12308307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12309725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313631	1.00[EUR][1000 genomes]
rs12314772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315255	1.00[EUR][1000 genomes]
rs12316813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319491	1.00[EUR][1000 genomes]
rs12319600	0.83[AFR][1000 genomes]
rs12319668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56235020	1.00[EUR][1000 genomes]
rs59858313	1.00[EUR][1000 genomes]
rs67200761	1.00[EUR][1000 genomes]
rs73061729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73061748	1.00[AMR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73063782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73063783	1.00[EUR][1000 genomes]
rs73065614	1.00[EUR][1000 genomes]
rs73065622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73065637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067752	1.00[EUR][1000 genomes]
rs73071945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73073797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73075593	1.00[EUR][1000 genomes]
rs73077508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73077524	1.00[EUR][1000 genomes]
rs73077528	1.00[EUR][1000 genomes]
rs73077530	1.00[EUR][1000 genomes]
rs73077591	1.00[EUR][1000 genomes]
rs73077598	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29359200-29366400	Enhancers	Fetal Intestine Large	intestine
2	chr12:29360400-29381000	Weak transcription	HUVEC	blood vessel
3	chr12:29362000-29368800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:29362600-29369800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:29363600-29369000	Weak transcription	Dnd41	blood
6	chr12:29363800-29377800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:29364200-29366000	Enhancers	Adipose Nuclei	Adipose
8	chr12:29364400-29366400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:29364600-29365800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:29364600-29365800	Enhancers	Rectal Smooth Muscle	rectum
11	chr12:29364600-29366000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:29364600-29366400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:29365200-29366600	Enhancers	Fetal Intestine Small	intestine
14	chr12:29365200-29366600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:29365400-29366400	Enhancers	Duodenum Mucosa	Duodenum
16	chr12:29365400-29366800	Enhancers	Placenta	Placenta
17	chr12:29365600-29366000	Enhancers	Fetal Heart	heart
18	chr12:29365600-29366200	Enhancers	Colon Smooth Muscle	Colon
19	chr12:29365600-29366200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr12:29365600-29366200	Enhancers	HSMMtube	muscle
21	chr12:29365600-29366200	Enhancers	NHDF-Ad	bronchial
22	chr12:29365600-29366400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:29365600-29368800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:29365600-29369400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:29365600-29370000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr12:29365600-29370200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:29365600-29378600	Weak transcription	Small Intestine	intestine

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