Variant report

Variant	rs72799385
Chromosome Location	chr16:69567706-69567707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69458458..69460462-chr16:69566272..69568616,2	MCF-7	breast:
2	chr16:69561206..69567755-chr16:69595684..69602877,15	K562	blood:
3	chr16:69566548..69569139-chr16:69573480..69575155,2	K562	blood:
4	chr16:69561256..69567897-chr16:69597498..69602280,7	MCF-7	breast:
5	chr16:69564473..69570135-chr16:69596661..69601236,6	MCF-7	breast:
6	chr16:69566413..69569276-chr16:69569579..69572523,2	K562	blood:
7	chr16:69566255..69568646-chr16:69598529..69601107,2	K562	blood:

Variant related genes	Relation type
ENSG00000103018	Chromatin interaction
ENSG00000223109	Chromatin interaction
ENSG00000102908	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs11863900	1.00[ASN][1000 genomes]
rs11864904	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1437137	1.00[ASN][1000 genomes]
rs16958951	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16958953	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17230557	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17230612	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17231138	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17231474	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17297088	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17297207	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17298718	1.00[ASN][1000 genomes]
rs45564335	1.00[ASN][1000 genomes]
rs55844704	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56043436	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56073658	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105992	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56127339	1.00[ASN][1000 genomes]
rs56170853	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56171157	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56221028	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62057900	1.00[ASN][1000 genomes]
rs6499230	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499238	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689453	1.00[ASN][1000 genomes]
rs689454	1.00[ASN][1000 genomes]
rs689461	1.00[ASN][1000 genomes]
rs7190756	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7193205	0.85[EUR][1000 genomes]
rs72783105	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783116	1.00[ASN][1000 genomes]
rs72783117	1.00[ASN][1000 genomes]
rs72783118	1.00[ASN][1000 genomes]
rs72783119	1.00[ASN][1000 genomes]
rs72783121	1.00[ASN][1000 genomes]
rs72783128	1.00[ASN][1000 genomes]
rs72783158	1.00[ASN][1000 genomes]
rs72783160	1.00[ASN][1000 genomes]
rs72783163	1.00[ASN][1000 genomes]
rs72783165	1.00[ASN][1000 genomes]
rs72783174	1.00[ASN][1000 genomes]
rs72799372	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72799373	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799378	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799379	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799381	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799387	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799393	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799394	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799398	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799400	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799402	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801305	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801307	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801308	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801312	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801314	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801315	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801317	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801318	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801319	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801320	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801321	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801322	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801323	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801325	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801326	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801328	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801330	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801332	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801333	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801337	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801338	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801339	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801344	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801347	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801350	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801352	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801354	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8049366	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055148	0.81[EUR][1000 genomes];1.00[ASN][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	nsv431514	chr16:69428599-69581699	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv906821	chr16:69509506-69576894	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1852	chr16:69566121-69610962	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69564800-69569200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr16:69564800-69569400	Weak transcription	Lung	lung
3	chr16:69564800-69569400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr16:69565000-69568800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr16:69565000-69569200	Weak transcription	Esophagus	oesophagus
6	chr16:69565000-69569400	Weak transcription	Spleen	Spleen
7	chr16:69565000-69570000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:69565000-69570000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr16:69565000-69571200	Weak transcription	Right Atrium	heart
10	chr16:69565200-69568800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:69565200-69568800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr16:69565200-69568800	Weak transcription	NH-A	brain
13	chr16:69565200-69568800	Weak transcription	Osteobl	bone
14	chr16:69565200-69569000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:69565200-69570600	Weak transcription	GM12878-XiMat	blood
16	chr16:69565400-69568800	Weak transcription	HUVEC	blood vessel
17	chr16:69565800-69569000	Weak transcription	Placenta	Placenta
18	chr16:69566200-69568600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:69566800-69568600	Weak transcription	HMEC	breast
20	chr16:69567000-69568600	Weak transcription	NHEK	skin
21	chr16:69567000-69569000	Weak transcription	HSMMtube	muscle
22	chr16:69567000-69569200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr16:69567000-69571200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr16:69567200-69567800	Enhancers	HepG2	liver
25	chr16:69567200-69567800	Enhancers	K562	blood
26	chr16:69567200-69568200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:69567200-69568600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr16:69567200-69568800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:69567200-69568800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr16:69567200-69568800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:69567200-69568800	Weak transcription	HSMM	muscle
32	chr16:69567200-69568800	Weak transcription	NHLF	lung
33	chr16:69567200-69569800	Enhancers	NHDF-Ad	bronchial
34	chr16:69567200-69571200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr16:69567200-69571200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr16:69567400-69568200	Enhancers	A549	lung
37	chr16:69567400-69568200	Enhancers	Hela-S3	cervix
38	chr16:69567400-69568400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:69567400-69568800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr16:69567400-69568800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:69567400-69571000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr16:69567600-69569400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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