Variant report

Variant	rs72713094
Chromosome Location	chr8:125536655-125536656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:125536574-125536733	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125476818..125478783-chr8:125536249..125538761,2	MCF-7	breast:
2	chr8:125484651..125486969-chr8:125535041..125537083,3	K562	blood:
3	chr8:125485755..125491202-chr8:125535208..125540184,8	MCF-7	breast:
4	chr8:125532738..125534576-chr8:125536572..125538281,2	MCF-7	breast:
5	chr8:125484651..125489587-chr8:125535041..125543731,11	K562	blood:
6	chr8:125462290..125464614-chr8:125536394..125538277,2	MCF-7	breast:
7	chr8:125536647..125538430-chr8:125826419..125828604,2	K562	blood:
8	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:
9	chr8:125490684..125492193-chr8:125536653..125538429,2	K562	blood:

No data

Variant related genes	Relation type
TATDN1	TF binding region
ENSG00000255491	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000183665	Chromatin interaction
ENSG00000245149	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11542673	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11986208	0.88[EUR][1000 genomes]
rs16899649	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16899653	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3829038	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4301437	0.88[EUR][1000 genomes]
rs4870899	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4870902	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4871493	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4871496	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871497	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55759812	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55872747	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55946925	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56158167	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56291877	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67764028	0.92[EUR][1000 genomes]
rs72713064	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72713066	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72713068	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713072	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713074	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713078	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72713081	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713082	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713088	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713090	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713101	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72714703	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72714704	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72714706	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72714707	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72714712	0.88[AMR][1000 genomes];0.96[EUR][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	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:125489000-125541200	Weak transcription	Gastric	stomach
3	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
4	chr8:125493200-125539400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:125499000-125537200	Weak transcription	Esophagus	oesophagus
8	chr8:125500000-125538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:125500000-125538400	Weak transcription	Psoas Muscle	Psoas
10	chr8:125500000-125549600	Weak transcription	Fetal Brain Male	brain
11	chr8:125501600-125550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:125504000-125550800	Weak transcription	Spleen	Spleen
13	chr8:125505800-125538600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:125506000-125538600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:125510200-125536800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:125516200-125537200	Weak transcription	Lung	lung
17	chr8:125516200-125543600	Weak transcription	Aorta	Aorta
18	chr8:125516200-125549600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr8:125516200-125549600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:125516400-125549600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr8:125519200-125550000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:125520000-125550600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:125523000-125536800	Weak transcription	Stomach Mucosa	stomach
24	chr8:125525200-125549600	Weak transcription	Brain Germinal Matrix	brain
25	chr8:125526600-125536800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:125526600-125541000	Weak transcription	Colonic Mucosa	Colon
27	chr8:125526800-125537200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:125527200-125537000	Weak transcription	Pancreas	Pancrea
29	chr8:125527200-125539600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:125527400-125541000	Weak transcription	Fetal Heart	heart
31	chr8:125527600-125537600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:125527600-125550200	Weak transcription	Fetal Brain Female	brain
33	chr8:125528000-125537000	Weak transcription	A549	lung
34	chr8:125528000-125550400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:125528200-125536800	Weak transcription	HepG2	liver
36	chr8:125529200-125537200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:125529200-125537200	Weak transcription	HSMMtube	muscle
38	chr8:125529200-125539600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:125529200-125543600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:125529200-125544000	Weak transcription	Fetal Stomach	stomach
41	chr8:125529400-125539600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr8:125529400-125543200	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:125531400-125536800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr8:125531400-125541200	Weak transcription	Hela-S3	cervix
45	chr8:125531400-125542600	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:125531400-125547400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:125531400-125550000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:125531600-125537000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:125531600-125538000	Weak transcription	Primary B cells from cord blood	blood
50	chr8:125531600-125538400	Weak transcription	Fetal Intestine Large	intestine

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