Variant report

Variant	rs17836511
Chromosome Location	chr12:4122380-4122381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4108613..4110875-chr12:4120970..4124448,3	MCF-7	breast:
2	chr12:4114135..4116114-chr12:4121065..4122878,2	MCF-7	breast:
3	chr12:4119356..4123364-chr12:4140628..4144860,5	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10492325	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11829980	0.84[EUR][1000 genomes]
rs11830453	0.84[EUR][1000 genomes]
rs11833630	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs11836187	0.81[EUR][1000 genomes]
rs17699732	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17699749	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2358592	0.81[EUR][1000 genomes]
rs2532534	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs2724198	0.86[EUR][1000 genomes]
rs2724209	0.84[EUR][1000 genomes]
rs57157801	0.97[EUR][1000 genomes]
rs7315461	0.81[EUR][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv832316	chr12:3981184-4180381	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2761723	chr12:4096815-4161871	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv468982	chr12:4108513-4164815	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv557120	chr12:4108513-4164815	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4116000-4122800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:4118800-4127200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:4119800-4123000	Weak transcription	Fetal Kidney	kidney
4	chr12:4120200-4123200	Enhancers	HMEC	breast
5	chr12:4120400-4122600	Enhancers	Pancreas	Pancrea
6	chr12:4120400-4123200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:4120400-4126400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:4120800-4126200	Enhancers	Fetal Intestine Small	intestine
9	chr12:4120800-4127600	Enhancers	Fetal Intestine Large	intestine
10	chr12:4121000-4123000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:4121200-4122400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:4121200-4124400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:4121200-4125200	Enhancers	Brain Germinal Matrix	brain
14	chr12:4121400-4122400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:4121400-4124000	Enhancers	HepG2	liver
16	chr12:4121600-4122400	Enhancers	Esophagus	oesophagus
17	chr12:4121600-4125600	Enhancers	Fetal Brain Female	brain
18	chr12:4121800-4123600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:4121800-4125600	Enhancers	Liver	Liver
20	chr12:4121800-4126400	Enhancers	Duodenum Mucosa	Duodenum
21	chr12:4122000-4122400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:4122000-4124000	Weak transcription	Placenta	Placenta
23	chr12:4122000-4126200	Enhancers	Fetal Brain Male	brain
24	chr12:4122200-4122600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr12:4122200-4125800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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