Variant report

Variant	rs16955379
Chromosome Location	chr16:81489373-81489374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81488699..81490361-chr16:81495076..81496755,2	MCF-7	breast:
2	chr16:81484666..81489373-chr16:81491892..81496112,4	MCF-7	breast:
3	chr16:81484368..81486187-chr16:81489220..81491535,2	MCF-7	breast:
4	chr16:81487188..81490116-chr16:81629347..81631108,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12596103	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12596138	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12596605	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[AMR][1000 genomes]
rs12599606	1.00[AMR][1000 genomes]
rs12599890	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[AMR][1000 genomes]
rs13330589	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13333580	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16955417	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2306115	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28517479	0.95[ASN][1000 genomes]
rs28634254	1.00[AMR][1000 genomes]
rs3803656	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs60898915	1.00[AMR][1000 genomes]
rs9928008	1.00[CEU][hapmap]
rs9930117	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9932863	1.00[CEU][hapmap];1.00[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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
4	esv34108	chr16:81469090-81510471	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Type 2 diabetes	22158537	GWAS catalog

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81481400-81491200	Weak transcription	NHLF	lung
2	chr16:81481400-81496400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr16:81482000-81507000	Weak transcription	Fetal Heart	heart
4	chr16:81482600-81490800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr16:81482800-81490000	Enhancers	Liver	Liver
6	chr16:81482800-81494400	Genic enhancers	Fetal Intestine Small	intestine
7	chr16:81483200-81489800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:81484600-81489400	Enhancers	Spleen	Spleen
9	chr16:81485200-81492800	Enhancers	Pancreas	Pancrea
10	chr16:81485400-81497000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr16:81485600-81489600	Weak transcription	HMEC	breast
12	chr16:81485600-81490000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr16:81485600-81490000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr16:81485600-81516800	Weak transcription	Hela-S3	cervix
15	chr16:81485800-81489400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr16:81485800-81490000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr16:81485800-81490800	Weak transcription	NH-A	brain
18	chr16:81486000-81489600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr16:81486000-81489800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr16:81486000-81490000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:81486000-81490200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr16:81486000-81500200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr16:81486200-81489800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr16:81486200-81490200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr16:81486400-81489400	Weak transcription	Primary T cells from cord blood	blood
26	chr16:81486400-81489400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr16:81486400-81489400	Weak transcription	Fetal Brain Female	brain
28	chr16:81486400-81489800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr16:81486400-81490200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr16:81486400-81491000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr16:81486400-81501800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr16:81486600-81495800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr16:81486600-81502600	Weak transcription	Fetal Kidney	kidney
34	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr16:81486800-81489400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr16:81486800-81489800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr16:81486800-81493600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr16:81487000-81489400	Enhancers	Duodenum Mucosa	Duodenum
39	chr16:81487000-81489800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr16:81487000-81490000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr16:81487000-81490600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr16:81487000-81491200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr16:81487000-81491200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr16:81487000-81495200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr16:81487000-81500000	Weak transcription	Fetal Lung	lung
46	chr16:81487000-81504400	Weak transcription	Fetal Brain Male	brain
47	chr16:81487000-81507200	Weak transcription	Colon Smooth Muscle	Colon
48	chr16:81487200-81489400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr16:81487200-81489400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr16:81487200-81489800	Weak transcription	Stomach Smooth Muscle	stomach

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