Variant report

Variant	rs376694122
Chromosome Location	chr12:31080437-31080438
allele	-/AACTT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1052957	chr12:30951520-31191197	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv541439	chr12:30951520-31191197	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1052869	chr12:30951520-31399162	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2422447	chr12:30954811-31449815	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv832362	chr12:30957786-31124983	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1053711	chr12:30959987-31156297	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv558030	chr12:30969675-31266287	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
10	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv1051648	chr12:31069125-31103671	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv2422366	chr12:31071959-31276836	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv658	chr12:31072400-31108649	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv3431172	chr12:31078685-31080783	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
15	nsv1047628	chr12:31080091-31149639	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv541441	chr12:31080091-31399162	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31078800-31080600	Enhancers	Spleen	Spleen
2	chr12:31079000-31080800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
3	chr12:31079200-31080600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr12:31079200-31081000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
5	chr12:31079200-31081600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
6	chr12:31079400-31080600	Bivalent/Poised TSS	Colonic Mucosa	Colon
7	chr12:31079400-31084200	Enhancers	Fetal Lung	lung
8	chr12:31079800-31080600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:31079800-31081000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:31079800-31081000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:31080000-31080800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:31080000-31080800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:31080000-31081000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:31080000-31081200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:31080000-31081600	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr12:31080000-31083200	Weak transcription	Right Atrium	heart
17	chr12:31080000-31083200	Weak transcription	Right Ventricle	heart
18	chr12:31080200-31080600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
19	chr12:31080200-31080600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr12:31080200-31080600	Enhancers	Left Ventricle	heart
21	chr12:31080200-31081200	Enhancers	HSMMtube	muscle
22	chr12:31080200-31081600	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr12:31080200-31081800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr12:31080200-31084000	Enhancers	HUVEC	blood vessel
25	chr12:31080400-31080600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:31080400-31080600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:31080400-31080600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr12:31080400-31080600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
29	chr12:31080400-31080600	Flanking Active TSS	Fetal Stomach	stomach
30	chr12:31080400-31080800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:31080400-31080800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:31080400-31081000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:31080400-31081000	Enhancers	Fetal Brain Male	brain
34	chr12:31080400-31081000	Active TSS	Fetal Brain Female	brain
35	chr12:31080400-31081400	Weak transcription	Lung	lung
36	chr12:31080400-31081800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:31080400-31081800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
38	chr12:31080400-31081800	Enhancers	Fetal Muscle Trunk	muscle
39	chr12:31080400-31083800	Weak transcription	Brain Substantia Nigra	brain
40	chr12:31080400-31084000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:31080400-31084400	Enhancers	Fetal Heart	heart

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