Variant report

Variant	rs72713066
Chromosome Location	chr8:125499363-125499364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr8:125498031-125500117	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr8:125497925-125499718	Hela-S3	cervix:	n/a	n/a
3	KAP1	chr8:125498768-125499876	HEK293	kidney:	n/a	n/a
4	POLR2A	chr8:125498704-125500083	K562	blood:	n/a	n/a
5	POLR2A	chr8:125498921-125500510	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:125498501-125499947	A549	lung:	n/a	n/a
7	FOXP2	chr8:125498819-125499787	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr8:125498153-125500095	GM12878	blood:	n/a	n/a
9	GATA3	chr8:125498676-125499432	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr8:125498514-125500049	K562	blood:	n/a	n/a
11	TCF12	chr8:125498561-125499410	SK-N-SH	brain:	n/a	n/a
12	PBX3	chr8:125498669-125499395	SK-N-SH	brain:	n/a	n/a
13	TCF7L2	chr8:125499276-125499801	HEK293	kidney:	n/a	n/a
14	POLR2A	chr8:125498213-125499435	PANC-1	pancreas:	n/a	n/a
15	KAP1	chr8:125498636-125499711	U2OS	brain:	n/a	n/a
16	POLR2A	chr8:125499339-125499403	MCF-7	breast:	n/a	n/a
17	POLR2A	chr8:125497761-125504238	K562	blood:	n/a	n/a
18	POLR2A	chr8:125498026-125499884	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr8:125498453-125499862	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr8:125498293-125499370	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr8:125499323-125499707	HCT-116	colon:	n/a	n/a
22	MXI1	chr8:125497858-125500460	SK-N-SH	brain:	n/a	n/a
23	TCF12	chr8:125498580-125499455	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr8:125498312-125500182	PFSK-1	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125497640..125500390-chr8:125515710..125518211,2	K562	blood:
2	chr8:125495517..125498370-chr8:125499214..125502183,3	MCF-7	breast:
3	chr8:125497001..125499898-chr8:125500699..125503419,3	K562	blood:
4	chr8:125498976..125500980-chr8:125550117..125552878,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253106	TF binding region
ENSG00000147687	Chromatin interaction
ENSG00000253106	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000147684	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11542673	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11986208	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16899649	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16899653	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3829038	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4301437	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4870899	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4870902	0.96[EUR][1000 genomes]
rs4871493	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871496	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871497	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55759812	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55872747	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55946925	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56158167	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56291877	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62527884	0.83[AFR][1000 genomes]
rs67764028	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72713049	0.83[AFR][1000 genomes]
rs72713064	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713068	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713072	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713078	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72713081	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713088	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713090	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713094	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72713101	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72714703	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72714704	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72714706	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72714707	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72714712	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7834203	0.83[AFR][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488000-125503400	Weak transcription	Spleen	Spleen
2	chr8:125488200-125515800	Weak transcription	Lung	lung
3	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:125489000-125501800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:125489000-125503400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:125489000-125505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:125489000-125519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:125489000-125531200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:125489000-125541200	Weak transcription	Gastric	stomach
10	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
11	chr8:125489400-125501800	Weak transcription	Fetal Intestine Small	intestine
12	chr8:125493000-125499600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:125493200-125539400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:125496000-125512600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:125496800-125503400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:125496800-125503400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:125496800-125513200	Weak transcription	Brain Angular Gyrus	brain
19	chr8:125496800-125521200	Weak transcription	Fetal Heart	heart
20	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:125497600-125505200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr8:125497800-125500200	Strong transcription	Primary hematopoietic stem cells	blood
23	chr8:125497800-125502400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr8:125497800-125504000	Strong transcription	Primary B cells from cord blood	blood
25	chr8:125497800-125506200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:125498000-125499400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:125498000-125499400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:125498000-125499600	Strong transcription	Fetal Muscle Leg	muscle
29	chr8:125498000-125499800	Strong transcription	Ovary	ovary
30	chr8:125498000-125499800	Genic enhancers	NHDF-Ad	bronchial
31	chr8:125498000-125500000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:125498000-125500000	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:125498000-125500000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
34	chr8:125498000-125500000	Strong transcription	HepG2	liver
35	chr8:125498000-125500200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:125498000-125500400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:125498000-125500400	Strong transcription	K562	blood
38	chr8:125498000-125500600	Strong transcription	Fetal Kidney	kidney
39	chr8:125498000-125501600	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr8:125498000-125501600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:125498000-125501600	Strong transcription	GM12878-XiMat	blood
42	chr8:125498000-125501800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr8:125498000-125502600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:125498000-125502600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:125498000-125503600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:125498000-125503800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr8:125498000-125503800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr8:125498000-125504000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:125498000-125504000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:125498000-125504000	Strong transcription	Fetal Thymus	thymus

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