Variant report

Variant	rs199934987
Chromosome Location	chr12:123709785-123709786
allele	-/GT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:123709660-123709810	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123698613..123700464-chr12:123709580..123711735,2	K562	blood:

Variant related genes	Relation type
MPHOSPH9	TF binding region

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	chr12:123684000-123709800	Strong transcription	Liver	Liver
11	chr12:123685400-123711600	Strong transcription	Fetal Stomach	stomach
12	chr12:123687200-123711600	Strong transcription	Fetal Intestine Small	intestine
13	chr12:123687800-123716600	Weak transcription	Gastric	stomach
14	chr12:123687800-123716600	Weak transcription	Pancreas	Pancrea
15	chr12:123687800-123717000	Weak transcription	Aorta	Aorta
16	chr12:123688000-123715200	Weak transcription	Fetal Heart	heart
17	chr12:123689600-123712200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:123690600-123710800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:123690800-123716000	Weak transcription	Psoas Muscle	Psoas
20	chr12:123694600-123716800	Weak transcription	Ovary	ovary
21	chr12:123696200-123715000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:123696400-123710400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr12:123696400-123710600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:123696400-123711600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr12:123698400-123716600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:123698800-123713400	Weak transcription	Fetal Brain Male	brain
27	chr12:123699200-123716400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:123699200-123716400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:123699400-123716400	Weak transcription	HSMM	muscle
30	chr12:123699600-123716400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:123699600-123716600	Weak transcription	Spleen	Spleen
32	chr12:123699600-123716600	Weak transcription	HSMMtube	muscle
33	chr12:123701200-123715200	Weak transcription	NHDF-Ad	bronchial
34	chr12:123702400-123710000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:123702400-123710600	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:123702600-123711600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:123702600-123715000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:123703000-123713200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:123703400-123715200	Weak transcription	Brain Angular Gyrus	brain
40	chr12:123703600-123712400	Weak transcription	Brain Germinal Matrix	brain
41	chr12:123704600-123715600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:123705000-123716600	Weak transcription	Lung	lung
43	chr12:123705200-123716200	Weak transcription	NHEK	skin
44	chr12:123705600-123709800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr12:123705600-123710400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:123706200-123710400	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:123706400-123712400	Weak transcription	Hela-S3	cervix
48	chr12:123706400-123716400	Weak transcription	Colon Smooth Muscle	Colon
49	chr12:123706600-123712800	Weak transcription	HUVEC	blood vessel
50	chr12:123706600-123716400	Weak transcription	Brain Hippocampus Middle	brain

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