Variant report

Variant	rs16919495
Chromosome Location	chr12:32372281-32372282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10128975	1.00[ASN][1000 genomes]
rs12298558	0.84[ASN][1000 genomes]
rs12307772	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12307792	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12312114	0.84[ASN][1000 genomes]
rs12319221	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16919488	1.00[CHB][hapmap]
rs16919490	1.00[CHB][hapmap]
rs16919525	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs16919527	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs56721887	0.82[ASN][1000 genomes]
rs56859103	0.82[ASN][1000 genomes]
rs59032949	0.84[ASN][1000 genomes]
rs60631634	0.82[ASN][1000 genomes]
rs6488039	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs7136736	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs7136837	0.84[ASN][1000 genomes]
rs7136969	0.84[ASN][1000 genomes]
rs7137031	0.84[ASN][1000 genomes]
rs7137148	0.84[ASN][1000 genomes]
rs7312077	1.00[CHB][hapmap]
rs7316052	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs73310720	0.84[ASN][1000 genomes]
rs73310737	0.84[ASN][1000 genomes]
rs73310739	1.00[ASN][1000 genomes]
rs7956048	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs7962134	0.84[ASN][1000 genomes]
rs7971625	0.84[ASN][1000 genomes]
rs7974961	0.84[ASN][1000 genomes]
rs9943866	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
5	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
6	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
7	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
8	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
9	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv541454	chr12:32371080-32401245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32323600-32373800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:32348600-32375800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:32364200-32379800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:32364200-32390000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:32364800-32388000	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:32365000-32390000	Weak transcription	Brain Substantia Nigra	brain
7	chr12:32365000-32390200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:32365200-32382800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:32365600-32391200	Weak transcription	Fetal Brain Male	brain
10	chr12:32368000-32372600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:32368400-32382800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:32368800-32372800	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:32369000-32372600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:32369000-32372800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:32369000-32372800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:32369200-32372400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:32369200-32372400	Strong transcription	Primary hematopoietic stem cells	blood
18	chr12:32369200-32372800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:32369200-32380400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:32369800-32373200	Weak transcription	Brain Angular Gyrus	brain
21	chr12:32370200-32407800	Weak transcription	Hela-S3	cervix
22	chr12:32370800-32373000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:32370800-32373200	Weak transcription	Right Atrium	heart
24	chr12:32371000-32372400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:32371000-32372600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:32371000-32372600	Weak transcription	Adipose Nuclei	Adipose
27	chr12:32371000-32378600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:32371000-32379400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:32371000-32379400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:32371000-32379400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:32371000-32379800	Weak transcription	Esophagus	oesophagus
32	chr12:32371000-32380800	Weak transcription	HSMM	muscle
33	chr12:32371000-32383000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:32371000-32386000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:32371000-32389800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:32371000-32390000	Weak transcription	HSMMtube	muscle
37	chr12:32371000-32390200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr12:32371200-32372400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:32371200-32372800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:32371200-32372800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:32371200-32373000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:32371200-32373400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:32371200-32375400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:32371200-32376000	Weak transcription	Primary B cells from cord blood	blood
45	chr12:32371200-32376600	Weak transcription	NHLF	lung
46	chr12:32371200-32379400	Weak transcription	Fetal Intestine Small	intestine
47	chr12:32371200-32379600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr12:32371200-32379600	Weak transcription	Spleen	Spleen
49	chr12:32371200-32380200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr12:32371200-32381000	Weak transcription	Lung	lung

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