Variant report

Variant	rs4148857
Chromosome Location	chr12:123539955-123539956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123538842..123542281-chr12:123553945..123556285,3	MCF-7	breast:
2	chr12:123533124..123537344-chr12:123538180..123541339,4	MCF-7	breast:
3	chr12:123519134..123520678-chr12:123539243..123542003,2	K562	blood:
4	chr12:123538667..123541322-chr12:123544543..123546513,3	K562	blood:
5	chr12:123539791..123542781-chr12:123573369..123575868,2	MCF-7	breast:
6	chr12:123527596..123531182-chr12:123539339..123542162,4	K562	blood:

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11060762	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs11060993	0.81[ASN][1000 genomes]
rs1568918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2270788	0.87[JPT][hapmap]
rs2280424	1.00[YRI][hapmap]
rs3759111	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs3759113	1.00[CEU][hapmap]
rs3782289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4148858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148859	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]
rs4148864	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4148865	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]
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];1.00[ASN][1000 genomes]
rs4759367	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4759407	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4759408	1.00[YRI][hapmap]
rs596940	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs73230017	0.86[ASN][1000 genomes]
rs7398697	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123504400-123540200	Weak transcription	Hela-S3	cervix
2	chr12:123518800-123540600	Weak transcription	HepG2	liver
3	chr12:123519000-123540400	Weak transcription	Gastric	stomach
4	chr12:123519000-123543400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:123528200-123542400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:123528600-123545800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:123528800-123541400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:123529000-123540400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:123529400-123544600	Weak transcription	Small Intestine	intestine
10	chr12:123529600-123546200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:123529800-123548200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:123530800-123540600	Weak transcription	Colonic Mucosa	Colon
13	chr12:123530800-123544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:123532200-123540200	Weak transcription	Brain Substantia Nigra	brain
15	chr12:123532400-123546600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:123532800-123543400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:123534800-123547200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:123535200-123543000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:123535400-123540000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:123535400-123540000	Weak transcription	NHLF	lung
21	chr12:123535400-123540400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:123535400-123540400	Weak transcription	HSMM	muscle
23	chr12:123535400-123540600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:123535400-123540600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:123535400-123540600	Weak transcription	Lung	lung
26	chr12:123535400-123543600	Weak transcription	Spleen	Spleen
27	chr12:123535600-123540200	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:123535600-123540600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:123535800-123540000	Weak transcription	Ovary	ovary
30	chr12:123535800-123540200	Weak transcription	A549	lung
31	chr12:123535800-123540600	Weak transcription	Esophagus	oesophagus
32	chr12:123535800-123540600	Weak transcription	Pancreas	Pancrea
33	chr12:123535800-123543200	Weak transcription	Fetal Stomach	stomach
34	chr12:123535800-123543400	Weak transcription	Fetal Intestine Small	intestine
35	chr12:123536000-123540000	Weak transcription	Brain Anterior Caudate	brain
36	chr12:123536000-123540000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr12:123536000-123540400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:123536000-123544200	Weak transcription	Liver	Liver
39	chr12:123536200-123540200	Weak transcription	K562	blood
40	chr12:123536600-123540000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:123536600-123543400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:123537000-123540200	Weak transcription	Colon Smooth Muscle	Colon
43	chr12:123537800-123551200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:123538600-123541200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:123538600-123541600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr12:123538800-123540600	Strong transcription	Primary B cells from cord blood	blood
47	chr12:123538800-123540800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:123538800-123541200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr12:123538800-123541400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr12:123538800-123543800	Genic enhancers	Fetal Thymus	thymus

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