Variant report

Variant	rs12857866
Chromosome Location	chr13:49106280-49106281
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49105312..49106900-chr13:49113736..49116224,2	MCF-7	breast:
2	chr13:49102666..49106800-chr13:49108921..49111572,3	MCF-7	breast:
3	chr13:49096194..49098388-chr13:49103789..49106979,3	MCF-7	breast:
4	chr13:49088221..49089957-chr13:49104157..49106836,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12583514	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12583617	1.00[EUR][1000 genomes]
rs12583644	1.00[EUR][1000 genomes]
rs12583787	1.00[ASN][1000 genomes]
rs12585384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585742	1.00[EUR][1000 genomes]
rs17071937	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1926597	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2148515	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4151472	1.00[EUR][1000 genomes]
rs4151479	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs4151522	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4151524	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs4151598	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4151602	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4151613	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449268	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55686933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57394470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139763	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7319276	1.00[ASN][1000 genomes]
rs7326934	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73479216	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73479220	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73495018	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73495037	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074944	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074951	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74077638	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316384	1.00[ASN][1000 genomes]
rs9316386	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9316387	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9316396	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9316398	1.00[ASN][1000 genomes]
rs9331984	1.00[CHB][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9331994	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332033	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332055	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9332070	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591176	1.00[ASN][1000 genomes]
rs9595914	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9595924	1.00[ASN][1000 genomes]
rs9595926	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49101800-49106600	Flanking Active TSS	GM12878-XiMat	blood
2	chr13:49105200-49106400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr13:49105400-49107800	Active TSS	Right Atrium	heart
4	chr13:49105600-49106400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:49105600-49106400	Flanking Active TSS	Dnd41	blood
6	chr13:49105600-49106600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr13:49105600-49107200	Active TSS	Colonic Mucosa	Colon
8	chr13:49105600-49107600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:49105600-49107600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:49105600-49107800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr13:49105600-49107800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr13:49105800-49106400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr13:49105800-49106400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr13:49105800-49106400	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr13:49105800-49106400	Flanking Active TSS	Fetal Thymus	thymus
16	chr13:49105800-49106400	Flanking Active TSS	HUVEC	blood vessel
17	chr13:49105800-49106600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr13:49105800-49106600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr13:49105800-49106600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr13:49105800-49106600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr13:49105800-49106800	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr13:49105800-49107200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr13:49105800-49107400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:49105800-49107400	Active TSS	Brain Hippocampus Middle	brain
25	chr13:49105800-49107400	Active TSS	Fetal Intestine Large	intestine
26	chr13:49105800-49107400	Active TSS	Fetal Muscle Trunk	muscle
27	chr13:49105800-49107400	Active TSS	Placenta	Placenta
28	chr13:49105800-49107400	Active TSS	Psoas Muscle	Psoas
29	chr13:49105800-49107600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr13:49105800-49107600	Active TSS	Fetal Intestine Small	intestine
31	chr13:49105800-49107600	Active TSS	Left Ventricle	heart
32	chr13:49105800-49107600	Active TSS	Ovary	ovary
33	chr13:49105800-49107600	Active TSS	Pancreas	Pancrea
34	chr13:49105800-49107600	Active TSS	HSMM	muscle
35	chr13:49105800-49107800	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr13:49105800-49107800	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr13:49105800-49107800	Active TSS	Aorta	Aorta
38	chr13:49105800-49107800	Active TSS	Duodenum Mucosa	Duodenum
39	chr13:49105800-49107800	Active TSS	Fetal Kidney	kidney
40	chr13:49105800-49107800	Active TSS	A549	lung
41	chr13:49105800-49108000	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr13:49106000-49106400	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr13:49106000-49106400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr13:49106000-49106400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:49106000-49106400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr13:49106000-49106400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr13:49106000-49106400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr13:49106000-49106400	Active TSS	HepG2	liver
49	chr13:49106000-49106600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr13:49106000-49106600	Flanking Active TSS	Primary B cells from cord blood	blood

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