Variant report

Variant	rs4148865
Chromosome Location	chr12:123595749-123595750
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123593239..123596148-chr12:123716066..123718804,3	K562	blood:
2	chr12:123582324..123585127-chr12:123595321..123597552,2	K562	blood:
3	chr12:123589646..123591494-chr12:123593029..123596172,4	K562	blood:

Variant related genes	Relation type
ENSG00000130921	Chromatin interaction
ENSG00000090975	Chromatin interaction
ENSG00000051825	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11057239	1.00[YRI][hapmap]
rs11060762	0.88[CHB][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap]
rs1568918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2280424	1.00[YRI][hapmap]
rs3759111	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs3759113	1.00[CEU][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap]
rs3759114	1.00[YRI][hapmap]
rs3782289	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4148857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4148858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4148859	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4148864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4759362	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4759367	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4759407	1.00[CEU][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap]
rs4759408	1.00[YRI][hapmap]
rs4759411	1.00[YRI][hapmap]
rs4759413	1.00[YRI][hapmap]
rs4759414	1.00[YRI][hapmap]
rs596940	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[ASN][1000 genomes]
rs7398697	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7967118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123561600-123604000	Genic enhancers	Fetal Thymus	thymus
2	chr12:123571200-123600000	Genic enhancers	Thymus	Thymus
3	chr12:123579800-123596200	Weak transcription	Osteobl	bone
4	chr12:123580600-123596000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:123583000-123595800	Weak transcription	NHDF-Ad	bronchial
6	chr12:123583200-123599600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:123588000-123599000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:123590000-123596600	Enhancers	Right Ventricle	heart
9	chr12:123590000-123598200	Enhancers	Right Atrium	heart
10	chr12:123590000-123603800	Enhancers	Left Ventricle	heart
11	chr12:123590600-123596000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:123590600-123598800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:123591000-123599400	Enhancers	Brain Anterior Caudate	brain
14	chr12:123591200-123597000	Genic enhancers	Stomach Smooth Muscle	stomach
15	chr12:123591600-123595800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:123591800-123596200	Weak transcription	Esophagus	oesophagus
17	chr12:123592000-123596200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:123592000-123596400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:123592000-123599000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:123592000-123599800	Weak transcription	HMEC	breast
21	chr12:123592200-123595800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:123592200-123595800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:123592200-123596000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:123592200-123596200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:123592200-123597400	Weak transcription	A549	lung
26	chr12:123592200-123599200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:123592200-123600200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:123592200-123601000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:123592400-123596000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:123592400-123596000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:123592400-123598400	Weak transcription	HUVEC	blood vessel
32	chr12:123592400-123598600	Weak transcription	Fetal Lung	lung
33	chr12:123592400-123601000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:123592600-123595800	Weak transcription	K562	blood
35	chr12:123592600-123596400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:123592600-123596400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:123592600-123598800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:123592800-123611200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:123593000-123595800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:123593000-123596200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:123593000-123597800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:123593200-123596000	Strong transcription	Primary B cells from cord blood	blood
43	chr12:123593200-123599200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:123593400-123597000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:123593400-123599400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:123593600-123596400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:123593600-123598000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:123593600-123599000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr12:123593600-123599000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:123593600-123599000	Weak transcription	Rectal Mucosa Donor 29	rectum

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