Variant report

Variant	rs9941115
Chromosome Location	chr16:82039400-82039401
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82031950..82034782-chr16:82038461..82041370,3	K562	blood:
2	chr16:82039216..82042021-chr16:82043959..82047046,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184860	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11150434	1.00[EUR][1000 genomes]
rs11150435	1.00[EUR][1000 genomes]
rs11859929	0.83[AMR][1000 genomes]
rs13333401	0.83[AMR][1000 genomes]
rs13336862	0.83[AMR][1000 genomes]
rs13337293	1.00[EUR][1000 genomes]
rs16956212	0.83[AMR][1000 genomes]
rs16956238	1.00[EUR][1000 genomes]
rs28435702	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28593579	0.83[AMR][1000 genomes]
rs28676286	0.83[AMR][1000 genomes]
rs28709269	0.83[AMR][1000 genomes]
rs4399528	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs60912325	1.00[EUR][1000 genomes]
rs7187542	0.83[AMR][1000 genomes]
rs7194931	0.83[AMR][1000 genomes]
rs7195508	1.00[EUR][1000 genomes]
rs7196078	1.00[EUR][1000 genomes]
rs7203187	0.83[AMR][1000 genomes]
rs7203196	0.83[AMR][1000 genomes]
rs7203437	0.83[AMR][1000 genomes]
rs7205968	1.00[EUR][1000 genomes]
rs8045494	1.00[EUR][1000 genomes]
rs8046533	1.00[EUR][1000 genomes]
rs8049423	1.00[EUR][1000 genomes]
rs8049750	1.00[EUR][1000 genomes]
rs8056343	1.00[EUR][1000 genomes]
rs8058561	1.00[EUR][1000 genomes]
rs8191048	1.00[EUR][1000 genomes]
rs8191049	1.00[EUR][1000 genomes]
rs8191080	1.00[EUR][1000 genomes]
rs8191081	1.00[EUR][1000 genomes]
rs8191089	1.00[EUR][1000 genomes]
rs9926028	0.83[AMR][1000 genomes]
rs9926471	0.83[AMR][1000 genomes]
rs9926634	0.95[AFR][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	nsv907012	chr16:81986896-82115148	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1058368	chr16:82029516-82152788	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82027400-82044200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:82027800-82041600	Strong transcription	Primary T cells from cord blood	blood
3	chr16:82029400-82041400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:82030000-82044000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr16:82030600-82044200	Weak transcription	Small Intestine	intestine
6	chr16:82030800-82042400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:82031000-82044400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr16:82032000-82043400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:82032000-82044400	Weak transcription	Colon Smooth Muscle	Colon
10	chr16:82032000-82044400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr16:82032200-82039400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr16:82032200-82042400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr16:82032200-82042600	Weak transcription	A549	lung
14	chr16:82032400-82044400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr16:82033000-82042400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr16:82033600-82040800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr16:82033800-82041000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr16:82033800-82042400	Weak transcription	Spleen	Spleen
19	chr16:82033800-82042600	Weak transcription	Colonic Mucosa	Colon
20	chr16:82033800-82044200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr16:82034000-82041200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr16:82034000-82042400	Weak transcription	Fetal Stomach	stomach
23	chr16:82034000-82042400	Weak transcription	Fetal Thymus	thymus
24	chr16:82034000-82042400	Weak transcription	Thymus	Thymus
25	chr16:82034000-82044200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr16:82034000-82044400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr16:82034200-82042400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr16:82034200-82042600	Weak transcription	Gastric	stomach
29	chr16:82034200-82043800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr16:82034400-82040400	Weak transcription	HMEC	breast
31	chr16:82034600-82042600	Weak transcription	Liver	Liver
32	chr16:82034800-82042400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr16:82034800-82044200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr16:82034800-82044200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr16:82035000-82042600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr16:82035600-82039400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:82036000-82042600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr16:82038000-82039800	Enhancers	Fetal Kidney	kidney
39	chr16:82038000-82040000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:82038200-82039400	Genic enhancers	Fetal Intestine Small	intestine
41	chr16:82038200-82039400	Enhancers	HUVEC	blood vessel
42	chr16:82038200-82043800	Weak transcription	Pancreas	Pancrea
43	chr16:82038400-82042400	Weak transcription	Esophagus	oesophagus
44	chr16:82038600-82039400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr16:82038600-82040200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr16:82038600-82042400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr16:82038800-82039400	Enhancers	Fetal Intestine Large	intestine
48	chr16:82039000-82039600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr16:82039200-82039400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr16:82039200-82044000	Weak transcription	NHEK	skin

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