Variant report

Variant	rs11051856
Chromosome Location	chr12:32370119-32370120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10844152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051858	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34285016	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60148004	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67607066	0.81[ASN][1000 genomes]
rs67794405	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74072020	0.91[AFR][1000 genomes]
rs74072021	0.91[AFR][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	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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

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	chr12:32348800-32370400	Weak transcription	A549	lung
4	chr12:32357600-32370600	Weak transcription	Pancreas	Pancrea
5	chr12:32357800-32370600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:32358800-32370600	Weak transcription	NHLF	lung
7	chr12:32359000-32370200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:32361600-32371600	Weak transcription	Fetal Heart	heart
9	chr12:32364000-32370600	Weak transcription	Aorta	Aorta
10	chr12:32364200-32370400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:32364200-32379800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:32364200-32390000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:32364400-32370600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:32364800-32372000	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:32364800-32388000	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:32365000-32390000	Weak transcription	Brain Substantia Nigra	brain
17	chr12:32365000-32390200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:32365200-32370600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:32365200-32382800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:32365600-32370600	Weak transcription	NHEK	skin
21	chr12:32365600-32391200	Weak transcription	Fetal Brain Male	brain
22	chr12:32365800-32370600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:32365800-32370600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:32367000-32370600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:32367200-32370800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:32367600-32370600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:32367800-32370600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:32367800-32370600	Weak transcription	Fetal Intestine Small	intestine
29	chr12:32367800-32370600	Weak transcription	Gastric	stomach
30	chr12:32367800-32370600	Weak transcription	Lung	lung
31	chr12:32367800-32370600	Weak transcription	Spleen	Spleen
32	chr12:32367800-32370800	Weak transcription	Esophagus	oesophagus
33	chr12:32368000-32372600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:32368200-32370600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:32368400-32382800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:32368800-32372800	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:32369000-32370600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:32369000-32370800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:32369000-32371200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr12:32369000-32371600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:32369000-32371600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:32369000-32371600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:32369000-32371600	Strong transcription	Fetal Brain Female	brain
44	chr12:32369000-32371600	Strong transcription	Fetal Intestine Large	intestine
45	chr12:32369000-32371800	Strong transcription	Dnd41	blood
46	chr12:32369000-32372600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:32369000-32372800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:32369000-32372800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:32369200-32370200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:32369200-32370200	Strong transcription	NH-A	brain

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