Variant report

Variant	rs41372046
Chromosome Location	chr12:82810699-82810700
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1353177	0.94[AMR][1000 genomes]
rs34761820	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35040515	0.83[AMR][1000 genomes]
rs35205518	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35537019	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559539	chr12:82280797-82896218	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1041954	chr12:82314981-83008609	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv541550	chr12:82314981-83008609	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv1841396	chr12:82768717-82881082	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:82758400-82835600	Weak transcription	Psoas Muscle	Psoas
2	chr12:82768400-82811600	Weak transcription	Fetal Stomach	stomach
3	chr12:82780400-82810800	Weak transcription	Fetal Brain Male	brain
4	chr12:82783000-82813200	Weak transcription	Gastric	stomach
5	chr12:82783000-82838000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:82783200-82811800	Weak transcription	Fetal Lung	lung
7	chr12:82789200-82833800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:82791200-82852000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:82793400-82812800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:82793400-82834400	Weak transcription	Liver	Liver
11	chr12:82793600-82813200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:82793600-82833000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:82793600-82833200	Weak transcription	Primary B cells from cord blood	blood
14	chr12:82799000-82812600	Weak transcription	Fetal Intestine Small	intestine
15	chr12:82801000-82811600	Weak transcription	Small Intestine	intestine
16	chr12:82801600-82812400	Weak transcription	Fetal Heart	heart
17	chr12:82802200-82825000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:82802200-82834400	Weak transcription	Aorta	Aorta
19	chr12:82802200-82834400	Weak transcription	Ovary	ovary
20	chr12:82802800-82812800	Weak transcription	Primary T cells from cord blood	blood
21	chr12:82803600-82852000	Weak transcription	Left Ventricle	heart
22	chr12:82804600-82869400	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:82809600-82832000	Weak transcription	Adipose Nuclei	Adipose
24	chr12:82809600-82834400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:82809800-82812600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:82810000-82813000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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