Variant report

Variant	rs571012030
Chromosome Location	chr12:29194758-29194759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1802947	chr12:29194445-29197813	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29191400-29197200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:29191600-29196000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:29191800-29194800	Enhancers	Fetal Intestine Large	intestine
4	chr12:29191800-29194800	Enhancers	Fetal Intestine Small	intestine
5	chr12:29191800-29197000	Enhancers	NHLF	lung
6	chr12:29192600-29195600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:29193200-29196000	Weak transcription	Fetal Stomach	stomach
8	chr12:29193800-29195000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:29194000-29195000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:29194200-29195400	Enhancers	HSMMtube	muscle
11	chr12:29194400-29194800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:29194400-29194800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:29194400-29194800	Enhancers	Rectal Smooth Muscle	rectum
14	chr12:29194400-29194800	Enhancers	HUVEC	blood vessel
15	chr12:29194400-29195000	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr12:29194400-29195000	Enhancers	HMEC	breast
17	chr12:29194400-29195000	Enhancers	NHEK	skin
18	chr12:29194400-29195200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:29194400-29195200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:29194400-29195200	Enhancers	Fetal Kidney	kidney
21	chr12:29194400-29195200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr12:29194400-29195200	Enhancers	Hela-S3	cervix
23	chr12:29194400-29195600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:29194400-29195600	Flanking Active TSS	NHDF-Ad	bronchial
25	chr12:29194400-29196400	Enhancers	HSMM	muscle
26	chr12:29194400-29197000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:29194400-29198000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:29194600-29194800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:29194600-29194800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:29194600-29194800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:29194600-29194800	Enhancers	Osteobl	bone
32	chr12:29194600-29195000	Active TSS	Duodenum Mucosa	Duodenum
33	chr12:29194600-29196200	Enhancers	NH-A	brain

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