Variant report

Variant	rs8191321
Chromosome Location	chr16:11769035-11769036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:11760476..11764785-chr16:11766720..11769869,4	K562	blood:
2	chr16:11768556..11771119-chr16:11783391..11785154,2	MCF-7	breast:
3	chr16:11769010..11770946-chr16:11776974..11779938,2	MCF-7	breast:
4	chr16:11768134..11770155-chr16:11969703..11971604,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184602	Chromatin interaction
ENSG00000153066	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs8191275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8191309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8191316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8191329	1.00[MEX][hapmap]
rs9924009	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037143	chr16:11454248-11913932	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv457409	chr16:11542894-11822066	Enhancers Strong transcription Weak transcription Active TSS Flanking 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	20 gene(s)	inside rSNPs	diseases
3	nsv571456	chr16:11542894-11822066	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS 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 target site	20 gene(s)	inside rSNPs	diseases
4	nsv524676	chr16:11569454-11795579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:11762800-11769800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr16:11763400-11770000	Enhancers	Pancreas	Pancrea
3	chr16:11763400-11775800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr16:11763600-11795600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:11763800-11769600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr16:11764000-11769400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr16:11764000-11769600	Weak transcription	Fetal Kidney	kidney
8	chr16:11764000-11769800	Weak transcription	Aorta	Aorta
9	chr16:11764000-11769800	Enhancers	Left Ventricle	heart
10	chr16:11764000-11770200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:11764000-11771200	Weak transcription	Osteobl	bone
12	chr16:11764000-11772200	Enhancers	HMEC	breast
13	chr16:11764200-11769200	Enhancers	Psoas Muscle	Psoas
14	chr16:11764200-11769800	Enhancers	Right Ventricle	heart
15	chr16:11764400-11769600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr16:11764400-11770000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr16:11764400-11770000	Enhancers	Liver	Liver
18	chr16:11764600-11769600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr16:11764600-11769800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr16:11764600-11769800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:11764600-11770000	Enhancers	Duodenum Mucosa	Duodenum
22	chr16:11764800-11769800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr16:11764800-11769800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:11764800-11770800	Genic enhancers	Fetal Muscle Leg	muscle
25	chr16:11764800-11773400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:11764800-11780000	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr16:11765000-11774200	Genic enhancers	Spleen	Spleen
28	chr16:11765000-11783200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:11765200-11770200	Enhancers	HepG2	liver
30	chr16:11765400-11771800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr16:11765600-11771200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr16:11766000-11769200	Enhancers	Gastric	stomach
33	chr16:11766000-11769400	Enhancers	A549	lung
34	chr16:11766000-11770800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr16:11766200-11769800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:11766600-11779200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr16:11766800-11769400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr16:11766800-11769600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:11767000-11769600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr16:11767000-11769600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr16:11767000-11769800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr16:11767000-11769800	Enhancers	NHEK	skin
43	chr16:11767000-11771200	Weak transcription	Fetal Heart	heart
44	chr16:11767000-11772200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr16:11767000-11773600	Weak transcription	K562	blood
46	chr16:11767200-11769400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr16:11767200-11770000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr16:11767200-11770200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:11767200-11770800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:11767200-11773200	Genic enhancers	Primary T helper cells fromperipheralblood	blood

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