Variant report

Variant	rs8046145
Chromosome Location	chr16:75295021-75295022
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75294860..75296890-chr16:75320654..75322329,2	MCF-7	breast:
2	chr16:75259384..75262203-chr16:75293212..75295661,2	K562	blood:
3	chr16:75269287..75272427-chr16:75294881..75297843,3	K562	blood:

Variant related genes	Relation type
ENSG00000240338	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000252101	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs13331385	0.89[EUR][1000 genomes]
rs13337017	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13337397	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2287990	0.89[EUR][1000 genomes]
rs28439846	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28595463	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28690217	0.89[EUR][1000 genomes]
rs2870463	0.83[EUR][1000 genomes]
rs3743614	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3826110	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56787417	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59067758	0.86[ASN][1000 genomes]
rs60470336	0.83[EUR][1000 genomes]
rs60852020	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60879082	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61634868	0.83[EUR][1000 genomes]
rs6564232	0.83[EUR][1000 genomes]
rs6564233	0.83[EUR][1000 genomes]
rs6564234	0.83[EUR][1000 genomes]
rs6564236	0.83[EUR][1000 genomes]
rs6564237	0.83[EUR][1000 genomes]
rs66473537	0.83[EUR][1000 genomes]
rs66535165	0.83[EUR][1000 genomes]
rs66881382	0.83[EUR][1000 genomes]
rs67478528	0.83[EUR][1000 genomes]
rs7185352	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7195852	0.80[EUR][1000 genomes]
rs7197389	0.83[EUR][1000 genomes]
rs7197746	0.83[EUR][1000 genomes]
rs7202844	0.83[EUR][1000 genomes]
rs7202858	0.82[EUR][1000 genomes]
rs7202877	0.83[EUR][1000 genomes]
rs72802372	0.83[EUR][1000 genomes]
rs72802375	0.83[EUR][1000 genomes]
rs72804106	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73605136	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73605139	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8048529	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8053595	0.83[EUR][1000 genomes]
rs8054218	0.83[EUR][1000 genomes]
rs8062169	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8063014	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9921586	0.84[EUR][1000 genomes]
rs9940370	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS 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	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers 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	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv906911	chr16:75252526-75296247	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv1813349	chr16:75257361-75302684	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
16	nsv906913	chr16:75267743-75306402	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
17	nsv471095	chr16:75269533-75320827	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
18	esv1843498	chr16:75271642-75296844	Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75286000-75297400	Enhancers	Psoas Muscle	Psoas
2	chr16:75286000-75297600	Genic enhancers	Fetal Intestine Small	intestine
3	chr16:75286000-75298000	Genic enhancers	Fetal Stomach	stomach
4	chr16:75289000-75297400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr16:75289200-75298600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:75290000-75297800	Weak transcription	Fetal Kidney	kidney
7	chr16:75290200-75295800	Weak transcription	Small Intestine	intestine
8	chr16:75291000-75295400	Weak transcription	Aorta	Aorta
9	chr16:75291000-75295400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr16:75291200-75295400	Weak transcription	A549	lung
11	chr16:75291600-75295800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr16:75292000-75295400	Weak transcription	Esophagus	oesophagus
13	chr16:75292200-75295200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr16:75292200-75295800	Weak transcription	Stomach Mucosa	stomach
15	chr16:75292200-75296000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr16:75292200-75298600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:75292400-75295400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr16:75292600-75295200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:75292600-75296000	Weak transcription	HSMM	muscle
20	chr16:75292600-75298200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr16:75292800-75295800	Weak transcription	HSMMtube	muscle
22	chr16:75292800-75296000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr16:75293000-75295200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr16:75293000-75295200	Weak transcription	Brain Substantia Nigra	brain
25	chr16:75293000-75295200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr16:75293200-75295200	Weak transcription	Fetal Brain Male	brain
27	chr16:75293200-75295400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr16:75293200-75295600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr16:75293200-75296000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr16:75293200-75296000	Weak transcription	Hela-S3	cervix
31	chr16:75293400-75295600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr16:75293400-75296200	Weak transcription	HMEC	breast
33	chr16:75293800-75297200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr16:75294000-75297600	Genic enhancers	Fetal Muscle Trunk	muscle
35	chr16:75294600-75295200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:75294600-75295200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:75294600-75295800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr16:75294600-75296200	Genic enhancers	NHLF	lung
39	chr16:75294600-75297800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr16:75294600-75297800	Enhancers	Fetal Heart	heart
41	chr16:75294600-75298000	Enhancers	Liver	Liver
42	chr16:75294800-75295200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:75294800-75295200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:75294800-75295200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:75294800-75295200	Weak transcription	NH-A	brain
46	chr16:75294800-75295400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:75294800-75295600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr16:75294800-75295600	Weak transcription	Osteobl	bone
49	chr16:75294800-75295800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:75294800-75295800	Enhancers	Brain Hippocampus Middle	brain

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