Variant report

Variant	rs550797450
Chromosome Location	chr12:123710686-123710687
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123698613..123700464-chr12:123709580..123711735,2	K562	blood:
2	chr12:123710592..123714275-chr12:123716414..123719028,5	MCF-7	breast:
3	chr12:123706053..123709770-chr12:123710218..123713943,5	K562	blood:

Variant related genes	Relation type
ENSG00000130921	Chromatin interaction
ENSG00000051825	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
2	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2761773	chr12:123616003-123723460	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123636600-123716600	Weak transcription	Esophagus	oesophagus
2	chr12:123637000-123713000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:123637200-123716400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:123650600-123716400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:123654200-123712000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:123654200-123715400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:123655000-123712000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:123674600-123713400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:123680600-123716600	Weak transcription	Colonic Mucosa	Colon
10	chr12:123685400-123711600	Strong transcription	Fetal Stomach	stomach
11	chr12:123687200-123711600	Strong transcription	Fetal Intestine Small	intestine
12	chr12:123687800-123716600	Weak transcription	Gastric	stomach
13	chr12:123687800-123716600	Weak transcription	Pancreas	Pancrea
14	chr12:123687800-123717000	Weak transcription	Aorta	Aorta
15	chr12:123688000-123715200	Weak transcription	Fetal Heart	heart
16	chr12:123689600-123712200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:123690600-123710800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:123690800-123716000	Weak transcription	Psoas Muscle	Psoas
19	chr12:123694600-123716800	Weak transcription	Ovary	ovary
20	chr12:123696200-123715000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:123696400-123711600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr12:123698400-123716600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:123698800-123713400	Weak transcription	Fetal Brain Male	brain
24	chr12:123699200-123716400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:123699200-123716400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:123699400-123716400	Weak transcription	HSMM	muscle
27	chr12:123699600-123716400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:123699600-123716600	Weak transcription	Spleen	Spleen
29	chr12:123699600-123716600	Weak transcription	HSMMtube	muscle
30	chr12:123701200-123715200	Weak transcription	NHDF-Ad	bronchial
31	chr12:123702600-123711600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:123702600-123715000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:123703000-123713200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:123703400-123715200	Weak transcription	Brain Angular Gyrus	brain
35	chr12:123703600-123712400	Weak transcription	Brain Germinal Matrix	brain
36	chr12:123704600-123715600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:123705000-123716600	Weak transcription	Lung	lung
38	chr12:123705200-123716200	Weak transcription	NHEK	skin
39	chr12:123706400-123712400	Weak transcription	Hela-S3	cervix
40	chr12:123706400-123716400	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:123706600-123712800	Weak transcription	HUVEC	blood vessel
42	chr12:123706600-123716400	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:123706600-123716400	Weak transcription	HMEC	breast
44	chr12:123706800-123711200	Weak transcription	Fetal Intestine Large	intestine
45	chr12:123706800-123716000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:123706800-123717000	Weak transcription	Small Intestine	intestine
47	chr12:123707000-123716000	Weak transcription	Left Ventricle	heart
48	chr12:123707200-123713200	Genic enhancers	Fetal Thymus	thymus
49	chr12:123707200-123715200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:123707200-123716400	Weak transcription	Stomach Smooth Muscle	stomach

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