Variant report

Variant	rs11834883
Chromosome Location	chr12:49828583-49828584
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11169055	1.00[AMR][1000 genomes]
rs11830622	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836969	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296998	1.00[AMR][1000 genomes]
rs12298123	1.00[AMR][1000 genomes]
rs12298506	1.00[AMR][1000 genomes]
rs12300085	1.00[AMR][1000 genomes]
rs12306942	1.00[AMR][1000 genomes]
rs12309399	1.00[AMR][1000 genomes]
rs12310046	1.00[AMR][1000 genomes]
rs12311319	1.00[AMR][1000 genomes]
rs12311910	1.00[AMR][1000 genomes]
rs12313583	1.00[AMR][1000 genomes]
rs12314348	1.00[AMR][1000 genomes]
rs12315746	1.00[AMR][1000 genomes]
rs12315941	1.00[AMR][1000 genomes]
rs12318913	1.00[AMR][1000 genomes]
rs12320104	1.00[AMR][1000 genomes]
rs12320434	1.00[AMR][1000 genomes]
rs12320612	1.00[AMR][1000 genomes]
rs12321717	1.00[AMR][1000 genomes]
rs13377828	1.00[AMR][1000 genomes]
rs57970210	1.00[AMR][1000 genomes]
rs58867453	1.00[AMR][1000 genomes]
rs59250711	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59570650	1.00[AMR][1000 genomes]
rs60254449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60507124	1.00[AMR][1000 genomes]
rs60658484	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61227990	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
2	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr12:49764200-49840200	Weak transcription	Fetal Lung	lung
2	chr12:49798400-49856000	Weak transcription	Primary T cells from cord blood	blood
3	chr12:49798600-49840000	Weak transcription	Hela-S3	cervix
4	chr12:49810800-49831400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:49812600-49829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:49812600-49849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:49816000-49848800	Weak transcription	Fetal Kidney	kidney
8	chr12:49816200-49833000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:49817600-49832400	Weak transcription	HepG2	liver
10	chr12:49819600-49828600	Weak transcription	Fetal Intestine Small	intestine
11	chr12:49820200-49828600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:49820400-49854400	Weak transcription	Dnd41	blood
13	chr12:49822800-49842600	Weak transcription	NHLF	lung
14	chr12:49823000-49832400	Weak transcription	A549	lung
15	chr12:49823000-49835600	Weak transcription	HUVEC	blood vessel
16	chr12:49823000-49836200	Weak transcription	HMEC	breast
17	chr12:49823000-49840200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:49823000-49840200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:49823000-49854200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:49823000-49856000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:49823000-49915800	Weak transcription	Primary B cells from cord blood	blood
22	chr12:49823200-49856000	Weak transcription	NHEK	skin
23	chr12:49823200-49856400	Weak transcription	HSMM	muscle
24	chr12:49823400-49840000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:49823400-49854400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:49823400-49856000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:49823400-49857400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:49823400-49876000	Weak transcription	Osteobl	bone
29	chr12:49825800-49839400	Weak transcription	Fetal Stomach	stomach
30	chr12:49826000-49833800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:49826600-49832800	Weak transcription	Small Intestine	intestine
32	chr12:49827800-49831800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:49828000-49863400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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