Variant report

Variant	rs561041399
Chromosome Location	chr12:2208271-2208272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv521838	chr12:2060580-2299680	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1035885	chr12:2077660-2310157	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv541350	chr12:2077660-2310157	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1038722	chr12:2085035-2308205	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv541351	chr12:2085035-2308205	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv898601	chr12:2124955-2215448	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv826183	chr12:2147469-2257818	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv898602	chr12:2149786-2223740	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv557009	chr12:2208215-2215725	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
14	nsv557010	chr12:2208215-2216588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2196800-2211200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:2202800-2210600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:2202800-2220200	Weak transcription	Fetal Brain Female	brain
4	chr12:2204000-2209200	Weak transcription	NHLF	lung
5	chr12:2204000-2210800	Weak transcription	NHDF-Ad	bronchial
6	chr12:2204600-2210600	Weak transcription	Fetal Intestine Small	intestine
7	chr12:2205000-2209200	Enhancers	Colon Smooth Muscle	Colon
8	chr12:2205200-2210600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:2205200-2210600	Weak transcription	Spleen	Spleen
10	chr12:2205600-2210600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:2206400-2209000	Enhancers	Fetal Heart	heart
12	chr12:2206800-2211600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:2207200-2208400	Enhancers	Brain Hippocampus Middle	brain
14	chr12:2207200-2208400	Enhancers	Brain Substantia Nigra	brain
15	chr12:2207200-2214000	Weak transcription	Lung	lung
16	chr12:2207200-2214200	Weak transcription	Right Atrium	heart
17	chr12:2207200-2223000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:2207600-2208400	Enhancers	Brain Angular Gyrus	brain
19	chr12:2207600-2208800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:2207800-2209200	Enhancers	Left Ventricle	heart
21	chr12:2207800-2209200	Enhancers	Right Ventricle	heart
22	chr12:2208000-2208400	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr12:2208000-2208600	Enhancers	Aorta	Aorta
24	chr12:2208000-2208600	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr12:2208200-2208400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr12:2208200-2208600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:2208200-2209000	Enhancers	Duodenum Smooth Muscle	Duodenum

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