Variant report

Variant	rs8062145
Chromosome Location	chr16:12340614-12340615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12189325..12191367-chr16:12339585..12341649,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1032887	0.91[ASN][1000 genomes]
rs10500378	0.95[ASN][1000 genomes]
rs10500380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12447994	0.95[ASN][1000 genomes]
rs13332306	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13380622	1.00[ASN][1000 genomes]
rs16959078	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16959080	1.00[ASN][1000 genomes]
rs16959097	0.91[ASN][1000 genomes]
rs16959100	0.91[ASN][1000 genomes]
rs16959126	0.91[ASN][1000 genomes]
rs16959130	0.91[ASN][1000 genomes]
rs2271269	1.00[ASN][1000 genomes]
rs28408454	1.00[ASN][1000 genomes]
rs41325045	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs60280624	0.91[ASN][1000 genomes]
rs6498273	1.00[ASN][1000 genomes]
rs7187929	1.00[ASN][1000 genomes]
rs7189091	1.00[ASN][1000 genomes]
rs7201716	1.00[EUR][1000 genomes]
rs8058627	0.91[ASN][1000 genomes]
rs870641	0.91[ASN][1000 genomes]
rs905948	0.91[ASN][1000 genomes]
rs9927344	0.91[ASN][1000 genomes]
rs9929445	1.00[JPT][hapmap]
rs9940308	1.00[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv905348	chr16:12299936-12358206	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12297400-12353800	Weak transcription	Gastric	stomach
2	chr16:12308000-12371400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:12309800-12371200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr16:12322600-12353600	Weak transcription	Lung	lung
5	chr16:12323000-12348600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:12323400-12394200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr16:12323800-12373000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr16:12330800-12349800	Weak transcription	Primary T cells from cord blood	blood
9	chr16:12330800-12373000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:12333200-12350600	Weak transcription	Esophagus	oesophagus
11	chr16:12333200-12353200	Weak transcription	Spleen	Spleen
12	chr16:12334000-12356600	Weak transcription	Right Atrium	heart
13	chr16:12334400-12356200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr16:12334600-12371800	Weak transcription	Adipose Nuclei	Adipose
15	chr16:12337800-12341400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr16:12337800-12349000	Weak transcription	GM12878-XiMat	blood
17	chr16:12338200-12348600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:12338200-12356400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr16:12338200-12396200	Weak transcription	Thymus	Thymus
20	chr16:12338400-12342200	Enhancers	Fetal Muscle Leg	muscle
21	chr16:12338800-12341000	Enhancers	Fetal Brain Female	brain
22	chr16:12339000-12341400	Enhancers	Fetal Brain Male	brain
23	chr16:12339200-12341400	Enhancers	HSMMtube	muscle
24	chr16:12339200-12350600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr16:12339600-12340800	Enhancers	Fetal Muscle Trunk	muscle
26	chr16:12339600-12341200	Enhancers	Brain Germinal Matrix	brain
27	chr16:12339600-12342400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr16:12339600-12342800	Weak transcription	Primary B cells from cord blood	blood
29	chr16:12339800-12340800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:12339800-12346200	Weak transcription	Brain Hippocampus Middle	brain
31	chr16:12340000-12341000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr16:12340000-12342200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:12340000-12351200	Weak transcription	Fetal Intestine Small	intestine
34	chr16:12340200-12349400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr16:12340400-12341200	Enhancers	Fetal Intestine Large	intestine
36	chr16:12340400-12353800	Weak transcription	Pancreas	Pancrea
37	chr16:12340600-12340800	Enhancers	Duodenum Mucosa	Duodenum
38	chr16:12340600-12340800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr16:12340600-12340800	Enhancers	HSMM	muscle

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