Variant report

Variant	rs73426173
Chromosome Location	chr7:108166857-108166858
allele	C/T
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	E2F6	chr7:108166529-108167048	A549	lung:	n/a	chr7:108166617-108166626 chr7:108166770-108166781
2	ZNF143	chr7:108165707-108167223	GM12878	blood:	n/a	n/a
3	CEBPB	chr7:108166472-108167178	K562	blood:	n/a	n/a
4	EGR1	chr7:108166464-108166955	GM12878	blood:	n/a	chr7:108166665-108166675 chr7:108166630-108166639 chr7:108166722-108166736 chr7:108166725-108166738
5	POLR2A	chr7:108165228-108167838	IMR90	lung:	n/a	n/a
6	GABPA	chr7:108166413-108167002	GM12878	blood:	n/a	chr7:108166665-108166674
7	POLR2A	chr7:108165753-108167452	K562	blood:	n/a	n/a
8	CTCF	chr7:108166792-108166866	GM19239	blood:	n/a	n/a
9	CHD1	chr7:108165066-108168214	IMR90	lung:	n/a	n/a
10	SP1	chr7:108166311-108167083	GM12878	blood:	n/a	chr7:108166619-108166633 chr7:108166441-108166453 chr7:108166618-108166630 chr7:108166729-108166738 chr7:108166609-108166618 chr7:108166618-108166630 chr7:108166441-108166453 chr7:108166608-108166620 chr7:108166618-108166629 chr7:108166619-108166628 chr7:108166608-108166620 chr7:108166609-108166623 chr7:108166347-108166361 chr7:108166730-108166739 chr7:108166609-108166618 chr7:108166620-108166629 chr7:108166610-108166619 chr7:108166442-108166451
11	POLR2A	chr7:108166207-108167194	GM12892	blood:	n/a	n/a
12	CCNT2	chr7:108166045-108167217	K562	blood:	n/a	n/a
13	POLR2A	chr7:108166391-108167164	HCT-116	colon:	n/a	n/a
14	POLR2A	chr7:108165920-108167763	K562	blood:	n/a	n/a
15	NFIC	chr7:108166307-108167348	GM12878	blood:	n/a	n/a
16	ATF2	chr7:108166319-108167018	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr7:108166077-108167169	K562	blood:	n/a	n/a
18	POLR2A	chr7:108165645-108167382	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr7:108165673-108167219	Hela-S3	cervix:	n/a	n/a
20	TCF12	chr7:108165815-108167290	A549	lung:	n/a	chr7:108166200-108166210
21	POLR2A	chr7:108165925-108167876	K562	blood:	n/a	n/a
22	USF1	chr7:108166353-108166905	A549	lung:	n/a	chr7:108166618-108166634
23	TAF1	chr7:108166809-108167052	GM12891	blood:	n/a	n/a
24	FOS	chr7:108165742-108167429	K562	blood:	n/a	chr7:108165844-108165855 chr7:108165847-108165857 chr7:108166611-108166620 chr7:108165846-108165858 chr7:108165848-108165857 chr7:108165847-108165857 chr7:108165847-108165857
25	POLR2A	chr7:108165976-108167228	ECC-1	luminal epithelium:	n/a	n/a
26	MAFK	chr7:108166669-108166915	H1-hESC	embryonic stem cell:	n/a	n/a
27	MXI1	chr7:108165862-108167196	HepG2	liver:	n/a	n/a
28	YY1	chr7:108166815-108167239	GM12891	blood:	n/a	n/a
29	MAX	chr7:108165634-108167323	Hela-S3	cervix:	n/a	n/a
30	ZBTB7A	chr7:108166803-108167147	HepG2	liver:	n/a	chr7:108167076-108167083
31	FOS	chr7:108166383-108166958	MCF10A-Er-Src	breast:	n/a	chr7:108166611-108166620
32	STAT3	chr7:108166303-108166913	MCF10A-Er-Src	breast:	n/a	chr7:108166517-108166528 chr7:108166667-108166679
33	EP300	chr7:108166370-108167081	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUN	chr7:108165635-108167720	K562	blood:	n/a	chr7:108165844-108165855 chr7:108165847-108165857 chr7:108166611-108166620 chr7:108165846-108165858 chr7:108165848-108165857 chr7:108165847-108165857 chr7:108165847-108165857
35	POLR2A	chr7:108165990-108167323	HL-60	blood:	n/a	n/a
36	CEBPB	chr7:108166510-108166946	A549	lung:	n/a	n/a
37	SIN3AK20	chr7:108166327-108167103	PFSK-1	brain:	n/a	n/a
38	ARID3A	chr7:108165749-108166917	HepG2	liver:	n/a	chr7:108165878-108165893
39	SP2	chr7:108166550-108167037	HepG2	liver:	n/a	chr7:108166722-108166737
40	POLR2A	chr7:108165698-108167279	H1-neurons	neurons:	n/a	n/a
41	MAFK	chr7:108166382-108167632	HepG2	liver:	n/a	n/a
42	USF2	chr7:108165852-108167092	H1-hESC	embryonic stem cell:	n/a	chr7:108166618-108166634
43	POLR2A	chr7:108166740-108167136	SK-N-SH	brain:	n/a	n/a
44	IRF1	chr7:108165920-108167739	K562	blood:	n/a	chr7:108166616-108166630
45	GATA3	chr7:108166774-108167142	T-47D	breast:	n/a	chr7:108166968-108166977
46	UBTF	chr7:108165792-108167168	K562	blood:	n/a	n/a
47	ELK4	chr7:108166532-108167060	Hela-S3	cervix:	n/a	n/a
48	CREB1	chr7:108166282-108166997	A549	lung:	n/a	n/a
49	CTCF	chr7:108166366-108166940	GM12878	blood:	n/a	n/a
50	POLR2A	chr7:108166683-108167066	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:33679839..33680779-chr7:108166327..108166905,2	Hela-S3	cervix:
2	chr1:6453435..6454353-chr7:108166123..108167056,2	Hela-S3	cervix:
3	chr1:23885542..23886133-chr7:108166187..108166865,2	Hela-S3	cervix:
4	chr7:108159403..108171484-chr7:108200740..108214365,45	K562	blood:
5	chr7:108094270..108096861-chr7:108164817..108167585,2	MCF-7	breast:
6	chr7:108164038..108167949-chr7:108208349..108211666,8	MCF-7	breast:
7	chr7:108166013..108168393-chr7:112089454..112090983,3	K562	blood:
8	chr7:108162967..108170259-chr7:108208242..108216228,25	MCF-7	breast:
9	chr7:108165923..108167136-chr7:108210044..108211017,5	Hela-S3	cervix:
10	chr6:31773770..31774762-chr7:108166524..108167512,2	NB4	blood:
11	chr7:107530519..107533143-chr7:108166290..108168481,3	K562	blood:
12	chr7:108163122..108173185-chr7:108207236..108216619,40	K562	blood:
13	chr12:120638412..120639384-chr7:108166138..108166875,2	Hela-S3	cervix:
14	chr2:37551896..37552745-chr7:108166541..108167176,2	Hela-S3	cervix:
15	chr7:108166247..108166908-chrX:67718281..67718910,2	Hela-S3	cervix:
16	chr7:108150467..108154049-chr7:108165742..108167801,3	K562	blood:
17	chr5:43483848..43484574-chr7:108166325..108167041,2	Hela-S3	cervix:

Variant related genes	Relation type
PNPLA8	TF binding region
ENSG00000255857	Chromatin interaction
ENSG00000117318	Chromatin interaction
ENSG00000006652	Chromatin interaction
ENSG00000204392	Chromatin interaction
ENSG00000128590	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000097021	Chromatin interaction
ENSG00000100991	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000091129	Chromatin interaction
ENSG00000231006	Chromatin interaction
ENSG00000115825	Chromatin interaction
ENSG00000181704	Chromatin interaction
ENSG00000232028	Chromatin interaction
ENSG00000271746	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000177683	Chromatin interaction
ENSG00000091140	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12673049	1.00[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	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108163800-108167400	Active TSS	Brain Cingulate Gyrus	brain
2	chr7:108164600-108167800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:108164800-108167200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr7:108164800-108167200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:108164800-108167600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:108164800-108167600	Active TSS	NHLF	lung
7	chr7:108164800-108167800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:108164800-108167800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:108165000-108167400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:108165000-108167600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:108165000-108168000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr7:108165200-108167600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr7:108165200-108167600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:108165400-108167200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:108165400-108167200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:108165400-108167200	Bivalent/Poised TSS	HepG2	liver
17	chr7:108165400-108167400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:108165400-108167400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:108165400-108167400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr7:108165400-108167400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:108165400-108167400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:108165400-108167400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:108165400-108167400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:108165400-108167400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:108165400-108167400	Active TSS	Left Ventricle	heart
26	chr7:108165400-108167400	Active TSS	Lung	lung
27	chr7:108165400-108167400	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr7:108165400-108167400	Active TSS	Stomach Smooth Muscle	stomach
29	chr7:108165400-108167400	Active TSS	HSMMtube	muscle
30	chr7:108165400-108167400	Active TSS	NHDF-Ad	bronchial
31	chr7:108165400-108167600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:108165400-108167600	Active TSS	Placenta	Placenta
33	chr7:108165400-108167600	Active TSS	Psoas Muscle	Psoas
34	chr7:108165400-108167600	Active TSS	Right Ventricle	heart
35	chr7:108165400-108167800	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr7:108165400-108167800	Active TSS	GM12878-XiMat	blood
37	chr7:108165400-108168000	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr7:108165600-108167200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:108165600-108167200	Active TSS	Primary T cells fromperipheralblood	blood
40	chr7:108165600-108167200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:108165600-108167200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:108165600-108167200	Active TSS	Fetal Intestine Large	intestine
43	chr7:108165600-108167200	Active TSS	Fetal Muscle Leg	muscle
44	chr7:108165600-108167200	Active TSS	Fetal Thymus	thymus
45	chr7:108165600-108167200	Active TSS	HMEC	breast
46	chr7:108165600-108167200	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr7:108165600-108167400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr7:108165600-108167400	Active TSS	Aorta	Aorta
49	chr7:108165600-108167400	Active TSS	K562	blood
50	chr7:108165600-108167600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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