Variant report

Variant	rs28513417
Chromosome Location	chr16:71802382-71802383
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	chr16:71795022..71797414-chr16:71798658..71803314,4	MCF-7	breast:
2	chr16:71784075..71786608-chr16:71800561..71802768,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11866559	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3764309	0.87[ASN][1000 genomes]
rs59650052	0.89[EUR][1000 genomes]
rs61733125	0.84[EUR][1000 genomes]
rs72799815	0.81[EUR][1000 genomes]
rs72799830	0.80[EUR][1000 genomes]
rs72801756	0.88[EUR][1000 genomes]
rs904763	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
3	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	89 gene(s)	inside rSNPs	diseases
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats 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	n/a
5	esv1815957	chr16:71790812-71816899	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71761000-71805600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:71762200-71811400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:71763200-71812600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr16:71763600-71812400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr16:71763800-71804800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:71764000-71804800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:71764000-71813000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr16:71764800-71802600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:71770800-71810600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr16:71770800-71813800	Strong transcription	Liver	Liver
11	chr16:71771000-71812200	Strong transcription	Placenta	Placenta
12	chr16:71779600-71841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr16:71780000-71821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr16:71783800-71820600	Weak transcription	Psoas Muscle	Psoas
15	chr16:71784000-71811200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:71785400-71808800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr16:71786400-71805200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr16:71786600-71809800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr16:71788000-71806600	Weak transcription	Stomach Mucosa	stomach
20	chr16:71792600-71806600	Weak transcription	Fetal Brain Male	brain
21	chr16:71792800-71803400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr16:71792800-71805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr16:71792800-71809600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr16:71792800-71811000	Weak transcription	Small Intestine	intestine
25	chr16:71793200-71808800	Strong transcription	Fetal Intestine Large	intestine
26	chr16:71793200-71830400	Weak transcription	Fetal Heart	heart
27	chr16:71794000-71808600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr16:71796800-71804200	Weak transcription	Colon Smooth Muscle	Colon
29	chr16:71797000-71803000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr16:71797000-71804400	Weak transcription	Left Ventricle	heart
31	chr16:71797000-71804400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr16:71797000-71807200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:71797000-71807200	Weak transcription	Esophagus	oesophagus
34	chr16:71797000-71807200	Weak transcription	Gastric	stomach
35	chr16:71797000-71807200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr16:71797000-71807200	Weak transcription	NHLF	lung
37	chr16:71797000-71823600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:71797200-71803000	Weak transcription	Lung	lung
39	chr16:71797200-71804400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr16:71797200-71807200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr16:71797200-71807200	Weak transcription	Aorta	Aorta
42	chr16:71797200-71807200	Weak transcription	Spleen	Spleen
43	chr16:71797200-71807600	Weak transcription	Right Ventricle	heart
44	chr16:71797200-71811200	Weak transcription	Pancreas	Pancrea
45	chr16:71797400-71803000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr16:71797400-71812800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr16:71797600-71804400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr16:71798200-71803200	Weak transcription	Hela-S3	cervix
49	chr16:71798400-71822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr16:71798600-71806600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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