Variant report

Variant	rs79037095
Chromosome Location	chr8:103818297-103818298
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	RXRA	chr8:103818119-103820335	SK-N-SH	brain:	n/a	chr8:103818682-103818689
2	FOXA2	chr8:103818018-103819381	A549	lung:	n/a	n/a
3	NR3C1	chr8:103818253-103819412	A549	lung:	n/a	n/a
4	EP300	chr8:103818203-103820140	SK-N-SH	brain:	n/a	chr8:103819902-103819918 chr8:103818809-103818825
5	EP300	chr8:103818190-103820206	ECC-1	luminal epithelium:	n/a	chr8:103819902-103819918 chr8:103818809-103818825
6	RCOR1	chr8:103818247-103821568	K562	blood:	n/a	n/a
7	POLR2A	chr8:103818068-103820184	GM12892	blood:	n/a	n/a
8	JUND	chr8:103818074-103820412	A549	lung:	n/a	chr8:103819044-103819055 chr8:103818845-103818856 chr8:103819102-103819113 chr8:103818780-103818789
9	MYC	chr8:103818244-103820107	NB4	blood:	n/a	chr8:103818616-103818627 chr8:103819610-103819619 chr8:103818617-103818626 chr8:103818777-103818787 chr8:103819610-103819620 chr8:103819608-103819623 chr8:103818617-103818626 chr8:103818616-103818627 chr8:103818617-103818627 chr8:103819694-103819704 chr8:103819610-103819619 chr8:103818618-103818625 chr8:103819611-103819618
10	POLR2A	chr8:103817955-103821905	PANC-1	pancreas:	n/a	n/a
11	RELA	chr8:103818264-103820066	GM19193	blood:	n/a	n/a
12	NR2F2	chr8:103818229-103820122	MCF-7	breast:	n/a	n/a
13	STAT1	chr8:103818276-103819081	K562	blood:	n/a	chr8:103818804-103818816 chr8:103818779-103818791 chr8:103818516-103818524
14	CBX3	chr8:103818119-103820123	K562	blood:	n/a	n/a
15	RELA	chr8:103818054-103820046	GM12891	blood:	n/a	n/a
16	JUND	chr8:103818288-103819480	SK-N-SH	brain:	n/a	chr8:103819044-103819055 chr8:103818845-103818856 chr8:103819102-103819113 chr8:103818780-103818789
17	JUN	chr8:103817951-103820172	K562	blood:	n/a	chr8:103819044-103819055 chr8:103818845-103818856 chr8:103818780-103818789
18	WRNIP1	chr8:103818103-103818597	GM12878	blood:	n/a	n/a
19	TCF7L2	chr8:103818158-103821127	Hela-S3	cervix:	n/a	chr8:103820382-103820392 chr8:103818425-103818441 chr8:103820379-103820393 chr8:103820381-103820390 chr8:103820817-103820827 chr8:103818429-103818438 chr8:103820378-103820394 chr8:103820817-103820824 chr8:103820378-103820394
20	ATF3	chr8:103818179-103820135	A549	lung:	n/a	chr8:103818773-103818782 chr8:103818873-103818886 chr8:103818636-103818644
21	POLR2A	chr8:103818135-103818766	A549	lung:	n/a	n/a
22	TEAD4	chr8:103818246-103820192	K562	blood:	n/a	n/a
23	EGR1	chr8:103818291-103819484	ECC-1	luminal epithelium:	n/a	chr8:103818774-103818787 chr8:103818775-103818786 chr8:103818775-103818784 chr8:103818774-103818787 chr8:103818778-103818788 chr8:103818774-103818787 chr8:103818773-103818788 chr8:103818774-103818784 chr8:103818774-103818787 chr8:103818773-103818787 chr8:103818855-103818865 chr8:103818769-103818791 chr8:103818792-103818802
24	RUNX3	chr8:103818096-103820213	GM12878	blood:	n/a	chr8:103819656-103819671
25	EBF1	chr8:103818283-103818848	GM12878	blood:	n/a	chr8:103818479-103818490
26	MAX	chr8:103818226-103820262	A549	lung:	n/a	chr8:103818616-103818627 chr8:103819610-103819619 chr8:103818617-103818626 chr8:103818777-103818787 chr8:103819610-103819620 chr8:103819608-103819623 chr8:103818617-103818626 chr8:103818616-103818627 chr8:103818617-103818627 chr8:103819694-103819704 chr8:103819610-103819619 chr8:103818618-103818625 chr8:103820199-103820210 chr8:103819611-103819618
27	FOXM1	chr8:103818013-103821681	MCF-7	breast:	n/a	n/a
28	HEY1	chr8:103818066-103819927	K562	blood:	n/a	chr8:103819810-103819819
29	NR3C1	chr8:103818224-103820111	A549	lung:	n/a	n/a
30	PBX3	chr8:103818201-103820204	SK-N-SH	brain:	n/a	n/a
31	TCF7L2	chr8:103818149-103821071	HCT-116	colon:	n/a	chr8:103820382-103820392 chr8:103818425-103818441 chr8:103820379-103820393 chr8:103820381-103820390 chr8:103820817-103820827 chr8:103818429-103818438 chr8:103820378-103820394 chr8:103820817-103820824 chr8:103820378-103820394
32	MAZ	chr8:103818296-103820116	K562	blood:	n/a	chr8:103818616-103818627 chr8:103819610-103819619 chr8:103818617-103818626 chr8:103818777-103818787 chr8:103819610-103819620 chr8:103819608-103819623 chr8:103818617-103818626 chr8:103818616-103818627 chr8:103818617-103818627 chr8:103819694-103819704 chr8:103819610-103819619 chr8:103818618-103818625 chr8:103819611-103819618
33	POLR2A	chr8:103818145-103818331	ProgFib	skin:	n/a	n/a
34	GABPA	chr8:103818263-103819852	K562	blood:	n/a	n/a
35	RAD21	chr8:103818228-103820255	ECC-1	luminal epithelium:	n/a	chr8:103819901-103819920
36	E2F6	chr8:103818231-103820464	A549	lung:	n/a	chr8:103818773-103818782 chr8:103818567-103818579 chr8:103818779-103818788
37	POLR2A	chr8:103818220-103820323	GM19099	blood:	n/a	n/a
38	ATF2	chr8:103818073-103819044	GM12878	blood:	n/a	n/a
39	TEAD4	chr8:103818287-103819411	A549	lung:	n/a	n/a
40	TCF12	chr8:103817929-103821809	A549	lung:	n/a	chr8:103821034-103821042 chr8:103818842-103818851 chr8:103820808-103820815 chr8:103820691-103820701
41	POLR2A	chr8:103818231-103820016	GM12878	blood:	n/a	n/a
42	TEAD4	chr8:103818232-103819514	HCT-116	colon:	n/a	n/a
43	POLR2A	chr8:103818069-103823312	HepG2	liver:	n/a	n/a
44	NFIC	chr8:103818172-103821136	ECC-1	luminal epithelium:	n/a	chr8:103820675-103820691
45	TBL1XR1	chr8:103818161-103818634	K562	blood:	n/a	n/a
46	ZNF143	chr8:103818282-103820096	GM12878	blood:	n/a	n/a
47	POLR2A	chr8:103818195-103819982	K562	blood:	n/a	n/a
48	SMC3	chr8:103818143-103821475	Hela-S3	cervix:	n/a	chr8:103820211-103820221
49	POLR2A	chr8:103818152-103820280	PBDE	blood:	n/a	n/a
50	PBX3	chr8:103818288-103819501	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103817310..103819555-chr8:144690473..144693447,2	MCF-7	breast:
2	chr8:103816803..103818468-chr8:103818908..103820464,2	K562	blood:
3	chr19:8385776..8387962-chr8:103817947..103819696,2	MCF-7	breast:
4	chr8:103817518..103820621-chr8:103884137..103887437,3	MCF-7	breast:
5	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
6	chr22:26878870..26880742-chr8:103818199..103820468,2	MCF-7	breast:
7	chr8:103818013..103820619-chr8:103873753..103877719,3	K562	blood:
8	chr11:62607921..62609557-chr8:103817365..103819306,2	MCF-7	breast:
9	chr8:103267417..103268998-chr8:103817417..103819784,2	MCF-7	breast:
10	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
11	chr8:103669664..103670176-chr8:103818037..103818965,2	MCF-7	breast:
12	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:
13	chr17:56707890..56710691-chr8:103818055..103819767,2	MCF-7	breast:
14	chr8:103420136..103427906-chr8:103815410..103825210,22	MCF-7	breast:
15	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
16	chr17:57182576..57184136-chr8:103818187..103820992,2	MCF-7	breast:
17	chr8:103667409..103668879-chr8:103818175..103819938,6	MCF-7	breast:
18	chr8:103816389..103823057-chr8:103875264..103878654,9	K562	blood:
19	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
20	chr1:37938067..37940901-chr8:103817766..103821632,3	MCF-7	breast:
21	chr8:103251230..103254364-chr8:103817398..103821115,5	K562	blood:
22	chr8:103666410..103667102-chr8:103817768..103818726,2	Hela-S3	cervix:
23	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
24	chr8:103623532..103635312-chr8:103817499..103824242,24	MCF-7	breast:
25	chr8:103665986..103666630-chr8:103818157..103818981,2	MCF-7	breast:
26	chr8:103818007..103820586-chr9:131474498..131476310,2	MCF-7	breast:
27	chr8:102503544..102506939-chr8:103817000..103821587,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	TF binding region
ENSG00000233927	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000163874	Chromatin interaction
ENSG00000233621	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000267855	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000100104	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000100099	Chromatin interaction
ENSG00000272037	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000167774	Chromatin interaction
ENSG00000224738	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000253382	Chromatin interaction
ENSG00000104524	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000108395	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000160447	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	esv3387271	chr8:103818001-103820749	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103809600-103819400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:103814800-103818400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:103815600-103818800	Enhancers	Primary T cells from cord blood	blood
4	chr8:103816000-103818400	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:103816000-103818400	Enhancers	Fetal Intestine Large	intestine
6	chr8:103816000-103818400	Enhancers	Placenta	Placenta
7	chr8:103816000-103819200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr8:103816200-103818400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr8:103816200-103818400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:103816200-103818400	Enhancers	Fetal Thymus	thymus
11	chr8:103816200-103818400	Enhancers	Lung	lung
12	chr8:103816400-103818400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:103816400-103818600	Enhancers	Small Intestine	intestine
14	chr8:103816400-103819200	Enhancers	Primary B cells from cord blood	blood
15	chr8:103816600-103818600	Enhancers	Fetal Lung	lung
16	chr8:103816800-103818400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:103816800-103818400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:103816800-103818400	Enhancers	Fetal Muscle Leg	muscle
19	chr8:103816800-103818400	Enhancers	Left Ventricle	heart
20	chr8:103816800-103818400	Enhancers	Pancreas	Pancrea
21	chr8:103816800-103818400	Enhancers	Right Atrium	heart
22	chr8:103816800-103818400	Enhancers	Right Ventricle	heart
23	chr8:103816800-103818400	Enhancers	Thymus	Thymus
24	chr8:103816800-103818400	Enhancers	HMEC	breast
25	chr8:103816800-103818600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr8:103816800-103818800	Enhancers	Fetal Heart	heart
27	chr8:103816800-103818800	Enhancers	Stomach Mucosa	stomach
28	chr8:103816800-103822400	Enhancers	Spleen	Spleen
29	chr8:103817000-103818400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
30	chr8:103817000-103818400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr8:103817000-103818600	Enhancers	Aorta	Aorta
32	chr8:103817000-103818600	Flanking Active TSS	Osteobl	bone
33	chr8:103817000-103819200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:103817200-103818400	Enhancers	Esophagus	oesophagus
35	chr8:103817200-103822800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:103817600-103818600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr8:103817600-103818800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr8:103817800-103818400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:103817800-103818600	Flanking Active TSS	A549	lung
40	chr8:103818000-103818400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:103818000-103818400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr8:103818000-103818400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:103818000-103818400	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr8:103818000-103818400	Flanking Active TSS	HSMMtube	muscle
45	chr8:103818000-103818600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:103818000-103818600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr8:103818000-103818600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:103818000-103818600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:103818000-103818600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr8:103818000-103818600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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