Variant report

Variant	rs4148859
Chromosome Location	chr12:123542492-123542493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123521429..123523174-chr12:123541091..123543118,2	K562	blood:
2	chr12:123444883..123447117-chr12:123541287..123543838,2	MCF-7	breast:
3	chr12:123534522..123536134-chr12:123540599..123542732,2	K562	blood:
4	chr12:123540726..123542900-chr12:123635050..123636986,3	MCF-7	breast:
5	chr12:123539791..123542781-chr12:123573369..123575868,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10847980	0.81[JPT][hapmap]
rs11060762	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs11060993	0.80[ASN][1000 genomes]
rs1568918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2270788	0.88[JPT][hapmap]
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]
rs3782289	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][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];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4148857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4148858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4148864	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][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];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4148865	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]
rs4759360	0.87[EUR][1000 genomes]
rs4759362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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]
rs596940	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.89[ASN][1000 genomes]
rs73230017	0.85[ASN][1000 genomes]
rs7398697	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7967118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][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	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	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	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
6	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv560494	chr12:123478378-123560731	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123519000-123543400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:123528600-123545800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:123529400-123544600	Weak transcription	Small Intestine	intestine
4	chr12:123529600-123546200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:123529800-123548200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:123530800-123544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:123532400-123546600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:123532800-123543400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:123534800-123547200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:123535200-123543000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:123535400-123543600	Weak transcription	Spleen	Spleen
12	chr12:123535800-123543200	Weak transcription	Fetal Stomach	stomach
13	chr12:123535800-123543400	Weak transcription	Fetal Intestine Small	intestine
14	chr12:123536000-123544200	Weak transcription	Liver	Liver
15	chr12:123536600-123543400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:123537800-123551200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:123538800-123543800	Genic enhancers	Fetal Thymus	thymus
18	chr12:123538800-123544200	Strong transcription	Primary T cells from cord blood	blood
19	chr12:123539400-123546600	Weak transcription	HSMMtube	muscle
20	chr12:123539600-123546000	Genic enhancers	Thymus	Thymus
21	chr12:123539600-123552600	Enhancers	Right Ventricle	heart
22	chr12:123539800-123549600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:123540000-123547200	Weak transcription	NH-A	brain
24	chr12:123540000-123547400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:123540200-123542800	Weak transcription	Fetal Heart	heart
26	chr12:123540200-123543800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:123540400-123543400	Weak transcription	Brain Substantia Nigra	brain
28	chr12:123540400-123544000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:123540600-123543200	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:123540600-123543600	Weak transcription	Fetal Brain Male	brain
31	chr12:123540600-123544000	Weak transcription	Fetal Brain Female	brain
32	chr12:123540600-123547400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:123540800-123543200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:123540800-123543400	Weak transcription	Gastric	stomach
35	chr12:123540800-123543400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:123540800-123544000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:123541000-123542800	Weak transcription	Brain Anterior Caudate	brain
38	chr12:123541000-123543000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr12:123541000-123543200	Weak transcription	Ovary	ovary
40	chr12:123541000-123543600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:123541000-123543800	Weak transcription	Esophagus	oesophagus
42	chr12:123541000-123545200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:123541000-123546600	Weak transcription	HepG2	liver
44	chr12:123541200-123542600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:123541200-123542600	Weak transcription	Colonic Mucosa	Colon
46	chr12:123541200-123542600	Weak transcription	NHDF-Ad	bronchial
47	chr12:123541200-123542800	Weak transcription	Left Ventricle	heart
48	chr12:123541200-123543000	Weak transcription	NHLF	lung
49	chr12:123541200-123543400	Weak transcription	Brain Germinal Matrix	brain
50	chr12:123541200-123543400	Weak transcription	Right Atrium	heart

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