Variant report

Variant	rs853758
Chromosome Location	chr12:122408855-122408856
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122403424..122405095-chr12:122408699..122410870,2	K562	blood:
2	chr12:122400159..122402861-chr12:122407797..122409946,2	MCF-7	breast:
3	chr12:122406493..122409216-chr12:122458778..122460329,2	MCF-7	breast:
4	chr12:122403298..122406654-chr12:122407062..122410131,3	K562	blood:

Variant related genes	Relation type
ENSG00000110987	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1154510	1.00[CEU][hapmap]
rs1154513	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1169075	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1169077	0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1169080	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1169082	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1169085	0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1169092	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1169093	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1182927	0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1185260	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1667580	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1667583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1667584	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1678951	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1678967	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1678969	0.84[CEU][hapmap];0.92[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1720041	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs1720067	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1916333	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2230681	1.00[CEU][hapmap]
rs2247139	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2247291	1.00[CEU][hapmap]
rs2596144	1.00[CEU][hapmap]
rs2620340	1.00[CEU][hapmap]
rs2620353	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2707056	1.00[CEU][hapmap]
rs4760099	1.00[CEU][hapmap]
rs493519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486794	0.82[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs693277	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7314056	1.00[CEU][hapmap]
rs7957207	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs7961103	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs830116	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs830122	0.82[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs830123	0.80[AMR][1000 genomes]
rs830124	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs830126	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs895959	1.00[CEU][hapmap]
rs9668191	0.91[CEU][hapmap]
rs9739533	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122375800-122415800	Weak transcription	Liver	Liver
2	chr12:122376000-122413000	Weak transcription	Aorta	Aorta
3	chr12:122391400-122410800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:122391800-122410800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:122394000-122429800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:122394200-122411000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:122394200-122411200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:122396600-122439200	Weak transcription	Brain Anterior Caudate	brain
9	chr12:122396800-122410800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:122399000-122411000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:122399000-122411000	Weak transcription	Gastric	stomach
12	chr12:122402000-122412400	Weak transcription	Ovary	ovary
13	chr12:122402000-122412800	Weak transcription	Spleen	Spleen
14	chr12:122403400-122410800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:122403400-122411000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:122403400-122417200	Weak transcription	NHDF-Ad	bronchial
17	chr12:122403800-122412400	Weak transcription	HSMM	muscle
18	chr12:122403800-122412600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:122404000-122410000	Weak transcription	HMEC	breast
20	chr12:122404000-122410800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:122404000-122412400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:122404600-122409800	Strong transcription	NHEK	skin
23	chr12:122404800-122409800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:122404800-122410000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:122404800-122410000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:122404800-122410000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:122404800-122411000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:122405000-122409800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:122405200-122409800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:122405200-122412400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:122405800-122409400	Enhancers	Primary hematopoietic stem cells	blood
32	chr12:122405800-122409400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:122405800-122409400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:122406200-122409000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr12:122406200-122409200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr12:122406200-122409200	Enhancers	Fetal Thymus	thymus
37	chr12:122406200-122416800	Weak transcription	K562	blood
38	chr12:122406400-122409000	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:122406400-122411200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:122406600-122418200	Weak transcription	Osteobl	bone
41	chr12:122407000-122410800	Weak transcription	Fetal Stomach	stomach
42	chr12:122407000-122412800	Weak transcription	Right Atrium	heart
43	chr12:122407200-122411000	Weak transcription	Thymus	Thymus
44	chr12:122407400-122409400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr12:122407400-122411000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:122407600-122409000	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:122407600-122412200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:122407800-122409400	Strong transcription	HSMMtube	muscle
49	chr12:122408000-122409000	Strong transcription	Fetal Intestine Small	intestine
50	chr12:122408000-122409200	Enhancers	Right Ventricle	heart

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