Variant report

Variant	rs2630565
Chromosome Location	chr12:32291879-32291880
allele	C/T
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:5)

rs_ID	r²[population]
rs1797501	0.85[ASN][1000 genomes]
rs1798255	0.84[ASN][1000 genomes]
rs2608405	0.90[ASN][1000 genomes]
rs2650123	0.85[ASN][1000 genomes]
rs956361	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1042317	chr12:32228872-32316774	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1041733	chr12:32247427-32312547	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32269000-32340200	Weak transcription	Dnd41	blood
2	chr12:32273600-32292200	Weak transcription	Small Intestine	intestine
3	chr12:32278000-32292200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:32278000-32292400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:32278400-32292000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:32281400-32292200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:32284400-32292400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:32287000-32292000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:32287400-32292000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:32287600-32292000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:32287600-32292000	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:32287600-32292200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:32287600-32292200	Weak transcription	Adipose Nuclei	Adipose
14	chr12:32287600-32292200	Weak transcription	Brain Substantia Nigra	brain
15	chr12:32287600-32292200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:32287600-32292200	Weak transcription	Thymus	Thymus
17	chr12:32287600-32292200	Weak transcription	NHEK	skin
18	chr12:32287600-32292400	Weak transcription	Gastric	stomach
19	chr12:32287600-32312200	Weak transcription	HSMMtube	muscle
20	chr12:32287800-32292000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:32287800-32292000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:32287800-32292000	Weak transcription	Primary T cells from cord blood	blood
23	chr12:32287800-32292000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:32287800-32292000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:32287800-32292000	Weak transcription	Fetal Thymus	thymus
26	chr12:32287800-32292000	Weak transcription	Stomach Mucosa	stomach
27	chr12:32287800-32292200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:32287800-32292200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:32287800-32292200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr12:32287800-32292200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:32287800-32292200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:32287800-32292200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:32287800-32292200	Weak transcription	Brain Anterior Caudate	brain
34	chr12:32287800-32292200	Weak transcription	Brain Germinal Matrix	brain
35	chr12:32287800-32292200	Weak transcription	HUVEC	blood vessel
36	chr12:32287800-32292200	Weak transcription	NHLF	lung
37	chr12:32287800-32292400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:32287800-32304000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:32287800-32328400	Weak transcription	Aorta	Aorta
40	chr12:32288000-32292000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:32288000-32292000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:32288000-32292000	Weak transcription	Ovary	ovary
43	chr12:32288000-32292000	Weak transcription	NH-A	brain
44	chr12:32288000-32292200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr12:32288000-32292200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:32288600-32292000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:32289600-32292200	Weak transcription	Fetal Intestine Small	intestine
48	chr12:32289600-32292400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:32289600-32292400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:32289800-32292400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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