Variant report

Variant	rs72716391
Chromosome Location	chr8:130694250-130694251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr8:130693948-130694815	A549	lung:	n/a	chr8:130694222-130694232
2	SP1	chr8:130693954-130694794	A549	lung:	n/a	chr8:130694293-130694300
3	CHD2	chr8:130694220-130694596	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr8:130694197-130694629	H1-hESC	embryonic stem cell:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
5	RAD21	chr8:130694224-130694605	K562	blood:	n/a	chr8:130694447-130694466
6	RAD21	chr8:130694165-130694790	Hela-S3	cervix:	n/a	chr8:130694447-130694466
7	FOXP2	chr8:130694094-130694634	SK-N-MC	brain:	n/a	n/a
8	MXI1	chr8:130694216-130694626	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAFK	chr8:130694194-130694582	K562	blood:	n/a	n/a
10	YY1	chr8:130694243-130694656	GM12878	blood:	n/a	n/a
11	CTCF	chr8:130694122-130694672	IMR90	lung:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
12	USF2	chr8:130694189-130694531	Hela-S3	cervix:	n/a	n/a
13	RAD21	chr8:130694228-130694635	K562	blood:	n/a	chr8:130694447-130694466
14	RFX5	chr8:130694240-130694516	GM12878	blood:	n/a	n/a
15	RAD21	chr8:130694168-130694655	SK-N-SH_RA	brain:	n/a	chr8:130694447-130694466
16	TBP	chr8:130694226-130694612	K562	blood:	n/a	n/a
17	POLR2A	chr8:130694026-130694665	SK-N-MC	brain:	n/a	n/a
18	TBP	chr8:130694100-130694582	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr8:130694120-130694270	GM12867	blood:	n/a	n/a
20	TAF1	chr8:130694238-130694609	SK-N-SH	brain:	n/a	n/a
21	RAD21	chr8:130694016-130694895	A549	lung:	n/a	chr8:130694447-130694466
22	ATF3	chr8:130694100-130694706	A549	lung:	n/a	n/a
23	POLR2A	chr8:130694189-130694764	HUVEC	blood vessel:	n/a	n/a
24	RAD21	chr8:130694064-130694661	IMR90	lung:	n/a	chr8:130694447-130694466
25	FOSL2	chr8:130694223-130694627	A549	lung:	n/a	n/a
26	PBX3	chr8:130694006-130694687	SK-N-SH	brain:	n/a	n/a
27	EP300	chr8:130694212-130694629	SK-N-SH_RA	brain:	n/a	chr8:130694326-130694342
28	POLR2A	chr8:130694199-130694666	H1-neurons	neurons:	n/a	n/a
29	CTCF	chr8:130694165-130694726	K562	blood:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
30	RAD21	chr8:130694153-130694719	HepG2	liver:	n/a	chr8:130694447-130694466
31	POLR2A	chr8:130694243-130694619	HCT-116	colon:	n/a	n/a
32	RAD21	chr8:130693873-130695254	HCT-116	colon:	n/a	chr8:130694447-130694466
33	TCF12	chr8:130694189-130694526	H1-hESC	embryonic stem cell:	n/a	chr8:130694222-130694232
34	UBTF	chr8:130694152-130694579	K562	blood:	n/a	n/a
35	RAD21	chr8:130694222-130694651	GM12878	blood:	n/a	chr8:130694447-130694466
36	POLR2A	chr8:130693625-130695550	HL-60	blood:	n/a	n/a
37	TEAD4	chr8:130694208-130694624	H1-hESC	embryonic stem cell:	n/a	n/a
38	ZNF143	chr8:130694060-130694602	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr8:130694122-130694647	GM12892	blood:	n/a	n/a
40	RAD21	chr8:130694076-130694665	H1-hESC	embryonic stem cell:	n/a	chr8:130694447-130694466
41	RAD21	chr8:130694217-130694550	HepG2	liver:	n/a	chr8:130694447-130694466
42	SMC3	chr8:130694181-130694655	K562	blood:	n/a	chr8:130694451-130694465
43	MAX	chr8:130694036-130694714	A549	lung:	n/a	n/a
44	RCOR1	chr8:130694195-130694638	K562	blood:	n/a	n/a
45	JUND	chr8:130694216-130694780	K562	blood:	n/a	chr8:130694698-130694710
46	HCFC1	chr8:130694244-130694625	K562	blood:	n/a	n/a
47	TCF7L2	chr8:130694116-130694505	Hela-S3	cervix:	n/a	chr8:130694157-130694171
48	NFIC	chr8:130694048-130694769	ECC-1	luminal epithelium:	n/a	chr8:130694479-130694495 chr8:130694479-130694496 chr8:130694480-130694497 chr8:130694481-130694497
49	POLR2A	chr8:130694216-130694671	GM12892	blood:	n/a	n/a
50	RAD21	chr8:130694157-130694686	H1-hESC	embryonic stem cell:	n/a	chr8:130694447-130694466

No.	Distal block	Cell Line	Cell type
1	chr8:130694163..130694944-chr8:130737903..130739156,3	MCF-7	breast:
2	chr8:128747230..128750854-chr8:130693874..130696139,3	K562	blood:
3	chr8:130692959..130695780-chr8:130701945..130704433,2	K562	blood:
4	chr8:130551039..130551980-chr8:130694084..130694624,2	MCF-7	breast:
5	chr8:130693914..130694433-chr8:130740865..130741380,2	MCF-7	breast:
6	chr8:127881390..127882102-chr8:130693928..130694709,3	K562	blood:
7	chr8:130693991..130694498-chr8:130705234..130705963,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GSDMC-1	chr8:130694093-130694359	ENSG00000254223

Variant related genes	Relation type
CCDC26	TF binding region
ENSG00000224110	Chromatin interaction
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10099422	0.89[EUR][1000 genomes]
rs10101101	0.98[ASN][1000 genomes]
rs12707937	0.84[EUR][1000 genomes]
rs13250001	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13256760	0.84[EUR][1000 genomes]
rs13263733	0.84[EUR][1000 genomes]
rs13264700	0.84[EUR][1000 genomes]
rs13265576	0.81[EUR][1000 genomes]
rs13267039	0.89[EUR][1000 genomes]
rs13267746	0.82[EUR][1000 genomes]
rs13280368	0.82[EUR][1000 genomes]
rs34390591	0.89[EUR][1000 genomes]
rs34865413	0.84[EUR][1000 genomes]
rs35125576	0.89[EUR][1000 genomes]
rs35509786	0.89[EUR][1000 genomes]
rs35778967	0.89[EUR][1000 genomes]
rs56049814	0.84[EUR][1000 genomes]
rs59225459	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60812642	0.89[EUR][1000 genomes]
rs66910128	0.84[EUR][1000 genomes]
rs67986379	0.89[EUR][1000 genomes]
rs68077667	0.89[EUR][1000 genomes]
rs6998742	0.89[EUR][1000 genomes]
rs7004790	0.80[EUR][1000 genomes]
rs72716385	0.89[EUR][1000 genomes]
rs7841674	0.89[EUR][1000 genomes]
rs9297796	0.89[EUR][1000 genomes]
rs9918807	0.89[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	nsv891446	chr8:130656205-130710638	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130689400-130697400	Weak transcription	HMEC	breast
2	chr8:130691200-130694800	Enhancers	NHDF-Ad	bronchial
3	chr8:130691800-130695800	Weak transcription	Spleen	Spleen
4	chr8:130691800-130697200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:130691800-130697800	Weak transcription	Lung	lung
6	chr8:130692400-130694800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:130692400-130698000	Weak transcription	Psoas Muscle	Psoas
8	chr8:130692600-130697000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:130692600-130698000	Weak transcription	Right Ventricle	heart
10	chr8:130693400-130694800	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:130693400-130695000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:130693600-130694400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:130693600-130694400	Enhancers	Fetal Lung	lung
14	chr8:130693600-130695200	Enhancers	Fetal Thymus	thymus
15	chr8:130693800-130694400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:130693800-130694400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:130693800-130694400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:130693800-130694400	Enhancers	Brain Cingulate Gyrus	brain
19	chr8:130693800-130694400	Enhancers	Fetal Brain Male	brain
20	chr8:130693800-130694400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:130693800-130694400	Enhancers	NHLF	lung
22	chr8:130693800-130694600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:130693800-130694800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:130693800-130695000	Enhancers	Fetal Muscle Leg	muscle
25	chr8:130693800-130695400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:130693800-130695800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr8:130693800-130696000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:130693800-130696600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr8:130694000-130694400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:130694000-130694400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:130694000-130694400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:130694000-130694400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr8:130694000-130694400	Enhancers	Primary B cells from peripheral blood	blood
34	chr8:130694000-130694400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:130694000-130694400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:130694000-130694400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:130694000-130694400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr8:130694000-130694400	Enhancers	Colon Smooth Muscle	Colon
39	chr8:130694000-130694400	Enhancers	Fetal Brain Female	brain
40	chr8:130694000-130694400	Enhancers	Fetal Muscle Trunk	muscle
41	chr8:130694000-130694400	Enhancers	Placenta	Placenta
42	chr8:130694000-130694400	Enhancers	Ovary	ovary
43	chr8:130694000-130694400	Enhancers	Rectal Smooth Muscle	rectum
44	chr8:130694000-130694400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr8:130694000-130694400	Enhancers	Stomach Smooth Muscle	stomach
46	chr8:130694000-130694400	Flanking Active TSS	A549	lung
47	chr8:130694000-130694400	Flanking Active TSS	Dnd41	blood
48	chr8:130694000-130694400	Enhancers	GM12878-XiMat	blood
49	chr8:130694000-130694400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr8:130694000-130694400	Enhancers	Osteobl	bone

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