Variant report

Variant	rs7206799
Chromosome Location	chr16:75585202-75585203
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75583056..75585935-chr16:75597677..75600952,3	K562	blood:
2	chr16:75583993..75586102-chr16:75587764..75590616,2	MCF-7	breast:
3	chr16:75584962..75586974-chr16:75587098..75590122,3	K562	blood:
4	chr16:75231754..75233579-chr16:75584595..75587243,2	MCF-7	breast:
5	chr16:75568617..75572519-chr16:75582425..75585505,4	K562	blood:

Variant related genes	Relation type
ENSG00000135702	Chromatin interaction
ENSG00000034713	Chromatin interaction
ENSG00000205084	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10871314	0.82[EUR][1000 genomes]
rs11149842	0.82[AMR][1000 genomes]
rs12445389	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12445937	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12446652	0.95[AMR][1000 genomes]
rs12595883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12596033	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12596724	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12598094	0.95[AMR][1000 genomes]
rs12598741	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12598751	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12599212	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12599322	0.95[AMR][1000 genomes]
rs12600066	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12600271	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16940253	0.90[AMR][1000 genomes]
rs16940467	0.89[AMR][1000 genomes]
rs17697211	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17764821	0.88[AMR][1000 genomes]
rs17764918	0.82[EUR][1000 genomes]
rs1812507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1836547	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1979717	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2164245	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2242406	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2278469	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2289063	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2903096	0.82[EUR][1000 genomes]
rs3736377	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3743599	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3743601	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3743603	0.95[AMR][1000 genomes]
rs3743605	0.89[AMR][1000 genomes]
rs3826108	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3851741	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4482320	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4887833	0.87[AMR][1000 genomes]
rs4887835	0.82[EUR][1000 genomes]
rs4887836	0.82[EUR][1000 genomes]
rs4887837	0.82[EUR][1000 genomes]
rs4888436	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4888437	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4888440	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4888442	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4888444	0.82[EUR][1000 genomes]
rs4888449	0.82[EUR][1000 genomes]
rs4888451	0.82[EUR][1000 genomes]
rs57208266	0.82[EUR][1000 genomes]
rs57252551	0.90[AMR][1000 genomes]
rs58091977	0.82[EUR][1000 genomes]
rs58273293	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58508930	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58533792	0.82[EUR][1000 genomes]
rs58597869	0.94[AMR][1000 genomes]
rs58673511	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58719566	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58846463	0.82[EUR][1000 genomes]
rs59449831	0.82[EUR][1000 genomes]
rs59907199	0.88[AMR][1000 genomes]
rs60393074	0.95[AMR][1000 genomes]
rs60952428	0.85[AMR][1000 genomes]
rs61036571	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61164110	0.82[AMR][1000 genomes]
rs61537885	0.94[EUR][1000 genomes]
rs61539645	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6564268	0.95[AMR][1000 genomes]
rs7187419	0.82[EUR][1000 genomes]
rs7187672	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7193066	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7195338	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs719574	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs74027438	0.89[AMR][1000 genomes]
rs7499759	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8051713	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8055329	0.88[EUR][1000 genomes]
rs8056968	0.94[AMR][1000 genomes]
rs8060972	0.84[AMR][1000 genomes]
rs8192516	0.94[AMR][1000 genomes]
rs963820	0.82[AMR][1000 genomes]
rs9788802	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
6	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active 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	44 gene(s)	inside rSNPs	diseases
9	nsv870450	chr16:75538457-75591359	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	41 gene(s)	inside rSNPs	diseases
10	nsv457526	chr16:75539885-75587966	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
11	nsv572987	chr16:75539885-75587966	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
12	nsv906929	chr16:75569739-75594918	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75551200-75589200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:75564200-75589200	Weak transcription	Lung	lung
3	chr16:75569200-75588600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr16:75569400-75588400	Weak transcription	Osteobl	bone
5	chr16:75570000-75588600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr16:75570000-75588800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:75570600-75588600	Weak transcription	NHEK	skin
8	chr16:75570600-75588800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr16:75570600-75589000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:75571800-75588600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:75572200-75588600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:75572800-75588600	Weak transcription	Brain Germinal Matrix	brain
13	chr16:75572800-75588800	Weak transcription	Aorta	Aorta
14	chr16:75572800-75588800	Weak transcription	Right Ventricle	heart
15	chr16:75573400-75588600	Weak transcription	Fetal Lung	lung
16	chr16:75574000-75588800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:75574200-75589000	Weak transcription	Pancreas	Pancrea
18	chr16:75574400-75588400	Weak transcription	Colon Smooth Muscle	Colon
19	chr16:75574400-75588800	Weak transcription	Fetal Kidney	kidney
20	chr16:75575200-75589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:75575600-75588800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:75576000-75588400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:75576000-75588800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:75576200-75588600	Weak transcription	Hela-S3	cervix
25	chr16:75578400-75588800	Weak transcription	Fetal Intestine Large	intestine
26	chr16:75578400-75589200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:75578400-75589200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:75578400-75589200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr16:75578600-75588600	Weak transcription	Fetal Brain Female	brain
30	chr16:75578600-75589200	Weak transcription	Esophagus	oesophagus
31	chr16:75578600-75589200	Weak transcription	Left Ventricle	heart
32	chr16:75578800-75588400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr16:75578800-75588400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:75578800-75588600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:75578800-75588800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:75578800-75588800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr16:75578800-75588800	Weak transcription	HSMMtube	muscle
38	chr16:75579000-75588600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:75579200-75588800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr16:75579200-75588800	Weak transcription	Ovary	ovary
41	chr16:75579400-75588800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:75580800-75588800	Weak transcription	Fetal Stomach	stomach
43	chr16:75583400-75588800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:75584200-75588800	Weak transcription	Brain Substantia Nigra	brain
45	chr16:75584200-75588800	Weak transcription	Fetal Muscle Leg	muscle
46	chr16:75584400-75586400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr16:75584400-75586600	Weak transcription	HUVEC	blood vessel
48	chr16:75584400-75588800	Weak transcription	Adipose Nuclei	Adipose
49	chr16:75584400-75589000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr16:75584400-75589000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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