Variant report

Variant	rs542449510
Chromosome Location	chr12:31079921-31079922
allele	C/T
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	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

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31078400-31080000	Enhancers	Fetal Heart	heart
2	chr12:31078800-31080000	Active TSS	Fetal Kidney	kidney
3	chr12:31078800-31080600	Enhancers	Spleen	Spleen
4	chr12:31079000-31080000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr12:31079000-31080000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:31079000-31080000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:31079000-31080000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:31079000-31080000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:31079000-31080000	Bivalent Enhancer	Liver	Liver
10	chr12:31079000-31080000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
11	chr12:31079000-31080000	Bivalent Enhancer	Placenta	Placenta
12	chr12:31079000-31080000	Flanking Bivalent TSS/Enh	HMEC	breast
13	chr12:31079000-31080000	Active TSS	HSMM	muscle
14	chr12:31079000-31080200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr12:31079000-31080200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:31079000-31080200	Bivalent Enhancer	Fetal Thymus	thymus
17	chr12:31079000-31080400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr12:31079000-31080800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
19	chr12:31079200-31080000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr12:31079200-31080000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:31079200-31080000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:31079200-31080000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:31079200-31080000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr12:31079200-31080000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr12:31079200-31080000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr12:31079200-31080000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:31079200-31080000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:31079200-31080000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:31079200-31080000	Active TSS	Fetal Brain Female	brain
30	chr12:31079200-31080000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
31	chr12:31079200-31080000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
32	chr12:31079200-31080000	Bivalent/Poised TSS	HepG2	liver
33	chr12:31079200-31080200	Active TSS	Brain Substantia Nigra	brain
34	chr12:31079200-31080200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
35	chr12:31079200-31080200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr12:31079200-31080400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:31079200-31080400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr12:31079200-31080600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr12:31079200-31081000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
40	chr12:31079200-31081600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
41	chr12:31079400-31080000	Active TSS	Brain Angular Gyrus	brain
42	chr12:31079400-31080000	Active TSS	Brain Cingulate Gyrus	brain
43	chr12:31079400-31080000	Active TSS	Brain Germinal Matrix	brain
44	chr12:31079400-31080000	Active TSS	Colon Smooth Muscle	Colon
45	chr12:31079400-31080000	Bivalent/Poised TSS	Fetal Stomach	stomach
46	chr12:31079400-31080000	Active TSS	NH-A	brain
47	chr12:31079400-31080600	Bivalent/Poised TSS	Colonic Mucosa	Colon
48	chr12:31079400-31084200	Enhancers	Fetal Lung	lung
49	chr12:31079600-31080000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:31079600-31080000	Flanking Active TSS	Gastric	stomach

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