Variant report

Variant	rs28393835
Chromosome Location	chr16:70682859-70682860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70413470..70415352-chr16:70682126..70684373,2	MCF-7	breast:
2	chr16:70680910..70683567-chr16:70688856..70691172,2	K562	blood:
3	chr16:70413939..70416331-chr16:70682108..70684497,2	MCF-7	breast:
4	chr16:70681076..70682967-chr16:70686271..70687994,2	K562	blood:
5	chr16:70681046..70683051-chr16:70685956..70688661,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157368	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11075774	0.92[AFR][1000 genomes]
rs11865702	0.81[AFR][1000 genomes]
rs13338169	0.86[AFR][1000 genomes]
rs2242125	0.87[ASN][1000 genomes]
rs28434516	0.98[ASN][1000 genomes]
rs8064220	0.85[AFR][1000 genomes]
rs9931347	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906874	chr16:70677785-70740707	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906875	chr16:70677785-70742536	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer 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	18 gene(s)	inside rSNPs	diseases
8	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr16:70669600-70687800	Weak transcription	Right Atrium	heart
2	chr16:70673600-70683200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:70673600-70684000	Weak transcription	Esophagus	oesophagus
4	chr16:70680000-70687200	Strong transcription	Fetal Intestine Small	intestine
5	chr16:70680200-70683400	Active TSS	Brain Angular Gyrus	brain
6	chr16:70680400-70683600	Active TSS	Brain Hippocampus Middle	brain
7	chr16:70680400-70685600	Genic enhancers	Spleen	Spleen
8	chr16:70680800-70683000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:70680800-70687800	Weak transcription	Colonic Mucosa	Colon
10	chr16:70680800-70687800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr16:70681200-70683000	Strong transcription	Fetal Intestine Large	intestine
12	chr16:70681200-70683200	Strong transcription	Fetal Stomach	stomach
13	chr16:70681400-70686400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr16:70681400-70687600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr16:70681600-70685000	Weak transcription	NHLF	lung
16	chr16:70681600-70685200	Weak transcription	NH-A	brain
17	chr16:70681800-70683000	Weak transcription	Osteobl	bone
18	chr16:70681800-70683200	Active TSS	Brain Anterior Caudate	brain
19	chr16:70681800-70683400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:70681800-70687800	Weak transcription	Brain Substantia Nigra	brain
21	chr16:70681800-70687800	Weak transcription	HSMM	muscle
22	chr16:70682000-70683200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:70682000-70683200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr16:70682000-70687800	Weak transcription	Fetal Muscle Leg	muscle
25	chr16:70682000-70687800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr16:70682400-70683400	Enhancers	HSMMtube	muscle
27	chr16:70682400-70687800	Weak transcription	Fetal Brain Male	brain
28	chr16:70682600-70687800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:70682800-70683000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
30	chr16:70682800-70683000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:70682800-70683000	Enhancers	K562	blood
32	chr16:70682800-70683600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:70682800-70683600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr16:70682800-70686600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr16:70682800-70687800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr16:70682800-70687800	Weak transcription	Fetal Muscle Trunk	muscle

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