Variant report

Variant	rs2620678
Chromosome Location	chr12:57962944-57962945
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1148552	0.90[EUR][1000 genomes]
rs1630692	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1678508	0.87[EUR][1000 genomes]
rs2600003	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2620683	0.89[EUR][1000 genomes]
rs6581146	0.90[EUR][1000 genomes]
rs703841	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
7	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
8	nsv1053930	chr12:57921188-57969659	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	n/a
9	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57955200-57973800	Weak transcription	NH-A	brain
2	chr12:57955400-57963800	Weak transcription	Brain Substantia Nigra	brain
3	chr12:57956600-57980600	Strong transcription	Brain Germinal Matrix	brain
4	chr12:57956800-57973400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:57957000-57980800	Strong transcription	Fetal Brain Female	brain
6	chr12:57957200-57979200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:57957600-57963400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:57957800-57965000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:57958000-57965000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:57958200-57965800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:57958800-57965800	Weak transcription	Gastric	stomach
12	chr12:57958800-57970200	Weak transcription	Fetal Brain Male	brain
13	chr12:57960200-57967600	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr12:57960400-57967600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:57960400-57972400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:57960600-57967400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:57960600-57967800	Weak transcription	NHLF	lung
18	chr12:57960800-57967200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:57960800-57967200	Strong transcription	Brain Anterior Caudate	brain
20	chr12:57960800-57967800	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr12:57961000-57963800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:57961000-57966800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:57961000-57967600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:57961000-57967600	Strong transcription	Brain Cingulate Gyrus	brain
25	chr12:57961000-57982000	Weak transcription	Right Atrium	heart
26	chr12:57961400-57967400	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr12:57962000-57964400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:57962000-57966600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:57962000-57966600	Strong transcription	Brain Hippocampus Middle	brain
30	chr12:57962000-57967200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:57962000-57970200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:57962200-57978200	Weak transcription	Spleen	Spleen
33	chr12:57962400-57967400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:57962600-57963000	Strong transcription	Fetal Stomach	stomach
35	chr12:57962600-57964000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:57962600-57964000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:57962600-57964000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:57962600-57964000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:57962600-57964000	Strong transcription	Aorta	Aorta
40	chr12:57962600-57964200	Strong transcription	Brain Angular Gyrus	brain
41	chr12:57962600-57966600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:57962600-57966600	Strong transcription	K562	blood
43	chr12:57962600-57977000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:57962800-57963000	Enhancers	HepG2	liver
45	chr12:57962800-57964800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:57962800-57966800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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