Variant report

Variant	rs72783174
Chromosome Location	chr16:69809678-69809679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr16:69809405-69809881	HL-60	blood:	n/a	n/a
2	SPI1	chr16:69809574-69809742	GM12878	blood:	n/a	n/a
3	SETDB1	chr16:69809336-69809856	U2OS	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:69801326..69804144-chr16:69805460..69809751,5	K562	blood:
2	chr16:69795573..69798488-chr16:69807022..69810242,5	K562	blood:
3	chr16:69801430..69804144-chr16:69805898..69809751,3	K562	blood:
4	chr16:69807100..69810099-chr16:69813476..69816910,4	K562	blood:
5	chr16:69794457..69798184-chr16:69807022..69810693,5	K562	blood:
6	chr16:69794502..69797651-chr16:69808679..69811582,3	MCF-7	breast:

No data

Variant related genes	Relation type
WWP2	TF binding region
ENSG00000252670	Chromatin interaction
ENSG00000198373	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs11863900	1.00[ASN][1000 genomes]
rs11864904	1.00[ASN][1000 genomes]
rs1437137	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16958951	1.00[ASN][1000 genomes]
rs16958953	1.00[ASN][1000 genomes]
rs17230557	1.00[ASN][1000 genomes]
rs17230612	1.00[ASN][1000 genomes]
rs17231138	1.00[ASN][1000 genomes]
rs17231474	1.00[ASN][1000 genomes]
rs17297088	1.00[ASN][1000 genomes]
rs17297207	1.00[ASN][1000 genomes]
rs17298718	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17300801	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444781	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45564335	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55635123	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55844704	1.00[ASN][1000 genomes]
rs55897481	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55921818	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56000913	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56043436	1.00[ASN][1000 genomes]
rs56073658	1.00[ASN][1000 genomes]
rs56105992	1.00[ASN][1000 genomes]
rs56127339	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56170853	1.00[ASN][1000 genomes]
rs56171157	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56180453	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186702	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56221028	1.00[ASN][1000 genomes]
rs56369384	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56377800	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58722949	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499230	1.00[ASN][1000 genomes]
rs6499238	1.00[ASN][1000 genomes]
rs689453	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689454	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689461	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7190756	1.00[ASN][1000 genomes]
rs7191376	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7203292	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204326	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783105	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72783116	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783117	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783118	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783119	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783121	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72783128	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783158	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783160	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783163	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783165	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783183	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783184	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783188	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783189	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783195	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783198	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785009	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785012	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785019	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785020	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785024	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785026	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785029	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785033	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785034	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785037	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785038	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785045	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785047	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785048	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785052	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785055	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785058	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785059	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785064	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785065	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785073	1.00[ASN][1000 genomes]
rs72799385	1.00[ASN][1000 genomes]
rs72799386	1.00[ASN][1000 genomes]
rs72799387	1.00[ASN][1000 genomes]
rs72799393	1.00[ASN][1000 genomes]
rs72799394	1.00[ASN][1000 genomes]
rs72799398	1.00[ASN][1000 genomes]
rs72799400	1.00[ASN][1000 genomes]
rs72799402	1.00[ASN][1000 genomes]
rs72801305	1.00[ASN][1000 genomes]
rs72801307	1.00[ASN][1000 genomes]
rs72801308	1.00[ASN][1000 genomes]
rs72801312	1.00[ASN][1000 genomes]
rs72801314	1.00[ASN][1000 genomes]
rs72801315	1.00[ASN][1000 genomes]
rs72801317	1.00[ASN][1000 genomes]
rs72801318	1.00[ASN][1000 genomes]
rs72801319	1.00[ASN][1000 genomes]
rs72801320	1.00[ASN][1000 genomes]
rs72801321	1.00[ASN][1000 genomes]
rs72801322	1.00[ASN][1000 genomes]
rs72801323	1.00[ASN][1000 genomes]
rs72801325	1.00[ASN][1000 genomes]
rs72801326	1.00[ASN][1000 genomes]
rs72801328	1.00[ASN][1000 genomes]
rs72801330	1.00[ASN][1000 genomes]
rs72801332	1.00[ASN][1000 genomes]
rs72801333	1.00[ASN][1000 genomes]
rs72801337	1.00[ASN][1000 genomes]
rs72801338	1.00[ASN][1000 genomes]
rs72801339	1.00[ASN][1000 genomes]
rs72801344	1.00[ASN][1000 genomes]
rs72801347	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72801350	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72801352	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72801354	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8055148	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8062809	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9935643	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69797200-69809800	Weak transcription	Small Intestine	intestine
2	chr16:69797400-69821200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr16:69797600-69816800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:69797600-69853400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:69797800-69809800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:69797800-69821200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:69798000-69810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:69800600-69817200	Weak transcription	Fetal Stomach	stomach
9	chr16:69800600-69817600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:69802800-69821400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:69803000-69823400	Weak transcription	Right Ventricle	heart
12	chr16:69803400-69830200	Weak transcription	Fetal Heart	heart
13	chr16:69804800-69814400	Weak transcription	Lung	lung
14	chr16:69806600-69812200	Weak transcription	Fetal Thymus	thymus
15	chr16:69806800-69809800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr16:69806800-69809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr16:69806800-69809800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr16:69806800-69817600	Weak transcription	Gastric	stomach
19	chr16:69806800-69821000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr16:69806800-69821200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr16:69806800-69830200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr16:69806800-69833000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr16:69807000-69810000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr16:69807000-69820800	Weak transcription	Spleen	Spleen
25	chr16:69807000-69821000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr16:69807000-69821400	Weak transcription	Colonic Mucosa	Colon
27	chr16:69807000-69821600	Weak transcription	Stomach Mucosa	stomach
28	chr16:69807000-69821800	Weak transcription	Brain Substantia Nigra	brain
29	chr16:69807000-69822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr16:69807000-69822400	Weak transcription	Fetal Kidney	kidney
31	chr16:69807000-69830200	Weak transcription	NHDF-Ad	bronchial
32	chr16:69807000-69832000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr16:69807200-69809800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr16:69807200-69816800	Weak transcription	Placenta	Placenta
35	chr16:69807200-69817200	Weak transcription	Left Ventricle	heart
36	chr16:69807200-69817600	Weak transcription	Esophagus	oesophagus
37	chr16:69807200-69821200	Weak transcription	Brain Angular Gyrus	brain
38	chr16:69807200-69830200	Weak transcription	Osteobl	bone
39	chr16:69807200-69832600	Weak transcription	NHLF	lung
40	chr16:69807200-69832800	Weak transcription	Pancreas	Pancrea
41	chr16:69807200-69852400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:69807200-69852800	Weak transcription	Hela-S3	cervix
43	chr16:69807200-69854800	Weak transcription	Psoas Muscle	Psoas
44	chr16:69807400-69816600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:69807400-69821400	Weak transcription	Ovary	ovary
46	chr16:69807600-69821200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:69807800-69818200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr16:69808000-69810400	ZNF genes & repeats	Primary B cells from cord blood	blood
49	chr16:69808000-69833200	Weak transcription	HSMM	muscle
50	chr16:69808200-69810400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood

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