Variant report

Variant	rs73401516
Chromosome Location	chr7:99068351-99068352
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr7:99068000-99068603	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:99067915-99068407	HepG2	liver:	n/a	n/a
3	HEY1	chr7:99067901-99068450	HepG2	liver:	n/a	n/a
4	NFIC	chr7:99067945-99068362	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:99067767-99071550	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:99067909-99068382	PFSK-1	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99068023..99071798-chr7:99154715..99160193,6	K562	blood:
2	chr7:99020436..99022117-chr7:99066958..99069565,2	MCF-7	breast:
3	chr7:99043772..99045661-chr7:99067395..99069052,2	MCF-7	breast:
4	chr7:99067101..99070259-chr7:99101537..99105672,3	K562	blood:
5	chr7:99051272..99054922-chr7:99066817..99070393,6	K562	blood:

No data

Variant related genes	Relation type
ATP5J2-PTCD1	TF binding region
ATP5J2	TF binding region
PTCD1	TF binding region
ZNF789	TF binding region
ENSG00000272647	Chromatin interaction
ENSG00000197343	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000221909	Chromatin interaction
ENSG00000196652	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10251282	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279308	0.95[ASN][1000 genomes]
rs1045012	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734	0.89[ASN][1000 genomes]
rs11972210	0.83[ASN][1000 genomes]
rs11978089	0.95[ASN][1000 genomes]
rs17161700	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17161726	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17854665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2003499	0.95[ASN][1000 genomes]
rs2293256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404487	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404488	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365067	0.89[ASN][1000 genomes]
rs28377312	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28460612	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28558950	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28668326	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28753399	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34943973	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3528	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823813	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41258334	0.89[ASN][1000 genomes]
rs45441991	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45448997	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45451992	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45461000	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45492501	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45529541	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45555335	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45592335	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45593341	0.83[ASN][1000 genomes]
rs55830753	0.83[ASN][1000 genomes]
rs55927283	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55942267	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56167514	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57367781	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57830676	0.83[ASN][1000 genomes]
rs57832867	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59240302	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59574285	0.89[ASN][1000 genomes]
rs59672032	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956305	0.89[ASN][1000 genomes]
rs6974831	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6976017	0.89[ASN][1000 genomes]
rs6977165	0.89[ASN][1000 genomes]
rs73397447	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397481	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397499	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401507	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401510	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403247	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73403272	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73403286	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73403290	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73405247	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73711280	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711293	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73711294	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73713507	0.94[ASN][1000 genomes]
rs73713531	0.89[ASN][1000 genomes]
rs73713580	0.89[ASN][1000 genomes]
rs7794068	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7805661	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7806754	0.83[ASN][1000 genomes]
rs917152	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952319	0.89[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	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99064200-99068800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:99064200-99068800	Weak transcription	Brain Angular Gyrus	brain
3	chr7:99064200-99068800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:99064200-99069000	Weak transcription	Lung	lung
5	chr7:99064200-99069600	Weak transcription	Esophagus	oesophagus
6	chr7:99064200-99069800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:99064200-99069800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:99064200-99069800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:99064200-99070000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:99064200-99070000	Weak transcription	Gastric	stomach
11	chr7:99064400-99068800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:99064400-99068800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:99064400-99068800	Weak transcription	Liver	Liver
14	chr7:99064400-99068800	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:99064400-99068800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:99064400-99069000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:99064400-99069000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr7:99064400-99069000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:99064400-99069000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:99064400-99069000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:99064400-99069000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:99064400-99069000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:99064400-99069600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:99064400-99069800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:99064400-99069800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:99064400-99070000	Weak transcription	Stomach Mucosa	stomach
27	chr7:99064600-99068600	Weak transcription	Dnd41	blood
28	chr7:99064600-99068800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr7:99066800-99071600	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr7:99066800-99071800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr7:99067200-99069000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:99067400-99069200	Weak transcription	Osteobl	bone
33	chr7:99067400-99069600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:99067600-99068400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr7:99067600-99068400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:99067600-99068400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr7:99067600-99068800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:99067600-99068800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:99067600-99069000	Enhancers	Pancreas	Pancrea
40	chr7:99067600-99069400	Weak transcription	NHEK	skin
41	chr7:99067600-99069800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:99067600-99070800	Active TSS	HepG2	liver
43	chr7:99067600-99071400	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr7:99068000-99068400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:99068000-99068400	Enhancers	Placenta	Placenta
46	chr7:99068000-99068400	Enhancers	Spleen	Spleen
47	chr7:99068000-99068800	Enhancers	K562	blood
48	chr7:99068000-99069400	Weak transcription	Right Ventricle	heart
49	chr7:99068200-99068400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr7:99068200-99068400	Bivalent Enhancer	Stomach Smooth Muscle	stomach

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