Variant report

Variant	rs373496
Chromosome Location	chr16:12060163-12060164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12058363..12061770-chr16:12069205..12072370,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000048471	Chromatin interaction
ENSG00000234719	Chromatin interaction
ENSG00000260488	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11570146	1.00[CHB][hapmap]
rs13338411	0.83[EUR][1000 genomes]
rs16958700	1.00[EUR][1000 genomes]
rs17236642	1.00[CEU][hapmap]
rs3885011	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs467106	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs4780403	0.83[EUR][1000 genomes]
rs4780406	1.00[EUR][1000 genomes]
rs4781160	1.00[EUR][1000 genomes]
rs4781167	1.00[CEU][hapmap]
rs57934416	0.83[EUR][1000 genomes]
rs58472329	0.83[EUR][1000 genomes]
rs7193780	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MKK][hapmap];1.00[EUR][1000 genomes]
rs73509738	0.83[EUR][1000 genomes]
rs73509774	0.83[EUR][1000 genomes]
rs74010441	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	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
5	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv571459	chr16:12046899-12062396	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv962195	chr16:12053526-12071576	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12040400-12065400	Weak transcription	Fetal Intestine Small	intestine
2	chr16:12042200-12064400	Weak transcription	Fetal Stomach	stomach
3	chr16:12048600-12064800	Weak transcription	Thymus	Thymus
4	chr16:12052200-12067600	Weak transcription	Osteobl	bone
5	chr16:12052200-12069600	Weak transcription	Primary T cells from cord blood	blood
6	chr16:12052400-12066800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:12053000-12065800	Weak transcription	Placenta	Placenta
8	chr16:12054600-12069400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr16:12056800-12069400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr16:12057000-12067600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr16:12057000-12067600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:12058200-12061200	Active TSS	GM12878-XiMat	blood
13	chr16:12058800-12067600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr16:12058800-12069400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr16:12059000-12061200	Active TSS	Duodenum Mucosa	Duodenum
16	chr16:12059000-12061800	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr16:12059000-12069400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr16:12059000-12069400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:12059000-12069400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr16:12059200-12065800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:12059200-12069400	Weak transcription	Adipose Nuclei	Adipose
22	chr16:12059400-12061400	Weak transcription	K562	blood
23	chr16:12059400-12067200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:12059400-12069400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr16:12059400-12069400	Weak transcription	NHEK	skin
26	chr16:12059400-12069600	Weak transcription	Brain Anterior Caudate	brain
27	chr16:12059400-12069600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr16:12059400-12069600	Weak transcription	Brain Substantia Nigra	brain
29	chr16:12059400-12069600	Weak transcription	HSMMtube	muscle
30	chr16:12059600-12069400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:12059600-12069600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr16:12059800-12060400	Active TSS	Primary B cells from cord blood	blood
33	chr16:12059800-12061400	Enhancers	Primary B cells from peripheral blood	blood
34	chr16:12059800-12069600	Weak transcription	Fetal Thymus	thymus
35	chr16:12060000-12060600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr16:12060000-12067600	Weak transcription	Left Ventricle	heart

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