Variant report

Variant	rs116319535
Chromosome Location	chr8:104383647-104383648
allele	A/C
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	MAX	chr8:104383318-104384271	ECC-1	luminal epithelium:	n/a	chr8:104383634-104383644 chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383661-104383670 chr8:104383466-104383477 chr8:104383465-104383478
2	EGR1	chr8:104383432-104383915	K562	blood:	n/a	chr8:104383723-104383732 chr8:104383722-104383732 chr8:104383720-104383733 chr8:104383720-104383733 chr8:104383631-104383644 chr8:104383720-104383734 chr8:104383633-104383643 chr8:104383657-104383667 chr8:104383721-104383735 chr8:104383630-104383645 chr8:104383723-104383733 chr8:104383719-104383734 chr8:104383720-104383733 chr8:104383721-104383732 chr8:104383657-104383670 chr8:104383631-104383644 chr8:104383654-104383668 chr8:104383720-104383733 chr8:104383677-104383690
3	TAF1	chr8:104383468-104383810	K562	blood:	n/a	n/a
4	EGR1	chr8:104383299-104385047	HCT-116	colon:	n/a	chr8:104383723-104383732 chr8:104383722-104383732 chr8:104383720-104383733 chr8:104383720-104383733 chr8:104383631-104383644 chr8:104384526-104384550 chr8:104383720-104383734 chr8:104383633-104383643 chr8:104383657-104383667 chr8:104383721-104383735 chr8:104383630-104383645 chr8:104383723-104383733 chr8:104383719-104383734 chr8:104383720-104383733 chr8:104383721-104383732 chr8:104383657-104383670 chr8:104383631-104383644 chr8:104383654-104383668 chr8:104383720-104383733 chr8:104383677-104383690
5	EGR1	chr8:104383527-104383823	GM12878	blood:	n/a	chr8:104383723-104383732 chr8:104383722-104383732 chr8:104383720-104383733 chr8:104383720-104383733 chr8:104383631-104383644 chr8:104383720-104383734 chr8:104383633-104383643 chr8:104383657-104383667 chr8:104383721-104383735 chr8:104383630-104383645 chr8:104383723-104383733 chr8:104383719-104383734 chr8:104383720-104383733 chr8:104383721-104383732 chr8:104383657-104383670 chr8:104383631-104383644 chr8:104383654-104383668 chr8:104383720-104383733 chr8:104383677-104383690
6	MAX	chr8:104383335-104384242	ECC-1	luminal epithelium:	n/a	chr8:104383634-104383644 chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383661-104383670 chr8:104383466-104383477 chr8:104383465-104383478
7	E2F6	chr8:104383612-104384004	A549	lung:	n/a	chr8:104383636-104383645 chr8:104383767-104383774 chr8:104383725-104383737
8	MAX	chr8:104383318-104384062	K562	blood:	n/a	chr8:104383634-104383644 chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383661-104383670 chr8:104383466-104383477 chr8:104383465-104383478
9	UBTF	chr8:104383396-104384063	K562	blood:	n/a	n/a
10	MAZ	chr8:104383435-104384013	HepG2	liver:	n/a	chr8:104383634-104383644 chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383661-104383670 chr8:104383466-104383477 chr8:104383465-104383478
11	POLR2A	chr8:104383545-104384160	GM12878	blood:	n/a	n/a
12	RAD21	chr8:104383359-104384138	SK-N-SH_RA	brain:	n/a	chr8:104383592-104383605
13	MAX	chr8:104383301-104385874	HCT-116	colon:	n/a	chr8:104383634-104383644 chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383661-104383670 chr8:104383466-104383477 chr8:104383465-104383478
14	ZBTB7A	chr8:104383419-104384007	K562	blood:	n/a	n/a
15	ZBTB7A	chr8:104383352-104383808	K562	blood:	n/a	n/a
16	TCF12	chr8:104383503-104384164	ECC-1	luminal epithelium:	n/a	n/a
17	ZNF143	chr8:104383385-104383963	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:104383422-104383708	K562	blood:	n/a	n/a
19	E2F6	chr8:104383331-104384615	H1-hESC	embryonic stem cell:	n/a	chr8:104383636-104383645 chr8:104383767-104383774 chr8:104383725-104383737
20	SMC3	chr8:104383479-104386604	SK-N-SH	brain:	n/a	chr8:104385611-104385621 chr8:104385611-104385625 chr8:104384498-104384505 chr8:104385618-104385625
21	RUNX3	chr8:104383295-104383935	GM12878	blood:	n/a	n/a
22	MYC	chr8:104383606-104384135	MCF-7	breast:	n/a	chr8:104383634-104383644 chr8:104383661-104383670
23	MAX	chr8:104383315-104385139	HepG2	liver:	n/a	chr8:104383634-104383644 chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383661-104383670 chr8:104383466-104383477 chr8:104383465-104383478
24	EGR1	chr8:104383477-104383906	H1-hESC	embryonic stem cell:	n/a	chr8:104383723-104383732 chr8:104383722-104383732 chr8:104383720-104383733 chr8:104383720-104383733 chr8:104383631-104383644 chr8:104383720-104383734 chr8:104383633-104383643 chr8:104383657-104383667 chr8:104383721-104383735 chr8:104383630-104383645 chr8:104383723-104383733 chr8:104383719-104383734 chr8:104383720-104383733 chr8:104383721-104383732 chr8:104383657-104383670 chr8:104383631-104383644 chr8:104383654-104383668 chr8:104383720-104383733 chr8:104383677-104383690
25	HEY1	chr8:104383342-104383954	K562	blood:	n/a	chr8:104383864-104383879 chr8:104383857-104383872 chr8:104383467-104383476
26	EGR1	chr8:104383574-104383818	GM12878	blood:	n/a	chr8:104383723-104383732 chr8:104383722-104383732 chr8:104383720-104383733 chr8:104383720-104383733 chr8:104383631-104383644 chr8:104383720-104383734 chr8:104383633-104383643 chr8:104383657-104383667 chr8:104383721-104383735 chr8:104383630-104383645 chr8:104383723-104383733 chr8:104383719-104383734 chr8:104383720-104383733 chr8:104383721-104383732 chr8:104383657-104383670 chr8:104383631-104383644 chr8:104383654-104383668 chr8:104383720-104383733 chr8:104383677-104383690
27	ZBTB7A	chr8:104383401-104383786	HepG2	liver:	n/a	n/a
28	MAX	chr8:104383324-104384725	MCF-7	breast:	n/a	chr8:104383634-104383644 chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383661-104383670 chr8:104383466-104383477 chr8:104383465-104383478
29	UBTF	chr8:104383467-104384005	K562	blood:	n/a	n/a
30	MAX	chr8:104383297-104384273	A549	lung:	n/a	chr8:104383634-104383644 chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383661-104383670 chr8:104383466-104383477 chr8:104383465-104383478
31	EGR1	chr8:104383488-104383951	ECC-1	luminal epithelium:	n/a	chr8:104383723-104383732 chr8:104383722-104383732 chr8:104383720-104383733 chr8:104383720-104383733 chr8:104383631-104383644 chr8:104383720-104383734 chr8:104383633-104383643 chr8:104383657-104383667 chr8:104383721-104383735 chr8:104383630-104383645 chr8:104383723-104383733 chr8:104383719-104383734 chr8:104383720-104383733 chr8:104383721-104383732 chr8:104383657-104383670 chr8:104383631-104383644 chr8:104383654-104383668 chr8:104383720-104383733 chr8:104383677-104383690
32	ZBTB7A	chr8:104383471-104383702	HepG2	liver:	n/a	n/a
33	HEY1	chr8:104383352-104383937	K562	blood:	n/a	chr8:104383864-104383879 chr8:104383857-104383872 chr8:104383467-104383476
34	E2F6	chr8:104383346-104384049	H1-hESC	embryonic stem cell:	n/a	chr8:104383636-104383645 chr8:104383767-104383774 chr8:104383725-104383737
35	EGR1	chr8:104383390-104383930	MCF-7	breast:	n/a	chr8:104383723-104383732 chr8:104383722-104383732 chr8:104383720-104383733 chr8:104383720-104383733 chr8:104383631-104383644 chr8:104383720-104383734 chr8:104383633-104383643 chr8:104383657-104383667 chr8:104383721-104383735 chr8:104383630-104383645 chr8:104383723-104383733 chr8:104383719-104383734 chr8:104383720-104383733 chr8:104383721-104383732 chr8:104383657-104383670 chr8:104383631-104383644 chr8:104383654-104383668 chr8:104383720-104383733 chr8:104383677-104383690
36	RCOR1	chr8:104383523-104384047	K562	blood:	n/a	n/a
37	EGR1	chr8:104383326-104384106	HCT-116	colon:	n/a	chr8:104383723-104383732 chr8:104383722-104383732 chr8:104383720-104383733 chr8:104383720-104383733 chr8:104383631-104383644 chr8:104383720-104383734 chr8:104383633-104383643 chr8:104383657-104383667 chr8:104383721-104383735 chr8:104383630-104383645 chr8:104383723-104383733 chr8:104383719-104383734 chr8:104383720-104383733 chr8:104383721-104383732 chr8:104383657-104383670 chr8:104383631-104383644 chr8:104383654-104383668 chr8:104383720-104383733 chr8:104383677-104383690
38	TEAD4	chr8:104383479-104385028	SK-N-SH	brain:	n/a	n/a
39	MAX	chr8:104383297-104385061	HCT-116	colon:	n/a	chr8:104383634-104383644 chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383661-104383670 chr8:104383466-104383477 chr8:104383465-104383478
40	MYC	chr8:104383294-104383913	K562	blood:	n/a	chr8:104383634-104383644 chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383661-104383670 chr8:104383466-104383477 chr8:104383465-104383478
41	POLR2A	chr8:104383590-104386072	IMR90	lung:	n/a	n/a
42	YY1	chr8:104383544-104384008	HepG2	liver:	n/a	chr8:104383781-104383795 chr8:104383588-104383599
43	ZBTB7A	chr8:104383365-104384154	ECC-1	luminal epithelium:	n/a	n/a
44	SIN3AK20	chr8:104383487-104383966	SK-N-SH	brain:	n/a	n/a
45	JUND	chr8:104383353-104384009	K562	blood:	n/a	n/a
46	CTCF	chr8:104383223-104384035	GM12878	blood:	n/a	n/a
47	HDAC2	chr8:104383306-104384322	MCF-7	breast:	n/a	n/a
48	POLR2A	chr8:104383415-104383905	HCT-116	colon:	n/a	n/a
49	MAX	chr8:104383321-104384123	MCF-7	breast:	n/a	chr8:104383634-104383644 chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383661-104383670 chr8:104383466-104383477 chr8:104383465-104383478
50	E2F6	chr8:104383330-104384108	K562	blood:	n/a	chr8:104383636-104383645 chr8:104383767-104383774 chr8:104383725-104383737

No.	Distal block	Cell Line	Cell type
1	chr8:104309661..104313454-chr8:104382208..104385836,8	MCF-7	breast:
2	chr8:104383486..104387596-chr8:104393672..104397600,4	K562	blood:
3	chr8:104381633..104383715-chr8:104424202..104427564,3	K562	blood:
4	chr8:104309966..104312210-chr8:104383451..104386900,3	MCF-7	breast:
5	chr8:104382282..104385358-chr8:104387344..104390689,3	K562	blood:
6	chr8:104382634..104385222-chr8:104394415..104397249,2	K562	blood:
7	chr8:104382707..104385620-chr8:104427062..104430016,2	MCF-7	breast:
8	chr8:104380544..104384762-chr8:104386449..104389451,3	K562	blood:
9	chr8:104382288..104384118-chr8:104384150..104386828,2	MCF-7	breast:
10	chr8:104382426..104384366-chr8:104426073..104428422,3	MCF-7	breast:

Variant related genes	Relation type
CTHRC1	TF binding region
ENSG00000266289	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000207399	Chromatin interaction
ENSG00000247081	Chromatin interaction
ENSG00000164932	Chromatin interaction
ENSG00000164930	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1033477	chr8:104369940-104439632	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv539706	chr8:104369940-104439632	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	esv2625329	chr8:104382650-104384243	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104381600-104383800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:104382800-104383800	Active TSS	HepG2	liver
3	chr8:104382800-104384000	Active TSS	A549	lung
4	chr8:104382800-104384200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:104382800-104384200	Active TSS	K562	blood
6	chr8:104383000-104384400	Weak transcription	Dnd41	blood
7	chr8:104383200-104383800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr8:104383200-104383800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr8:104383200-104384000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr8:104383200-104384000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr8:104383200-104384000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:104383200-104384000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
13	chr8:104383200-104384200	Active TSS	Primary T cells from cord blood	blood
14	chr8:104383200-104384200	Active TSS	Thymus	Thymus
15	chr8:104383200-104384400	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chr8:104383200-104384400	Bivalent/Poised TSS	NHEK	skin
17	chr8:104383400-104383800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr8:104383400-104383800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:104383400-104383800	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr8:104383400-104383800	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr8:104383400-104383800	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr8:104383400-104383800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:104383400-104383800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:104383400-104383800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr8:104383400-104383800	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:104383400-104383800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
27	chr8:104383400-104383800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
28	chr8:104383400-104383800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr8:104383400-104383800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:104383400-104383800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:104383400-104383800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:104383400-104383800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr8:104383400-104383800	Active TSS	Brain Cingulate Gyrus	brain
34	chr8:104383400-104383800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
35	chr8:104383400-104383800	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr8:104383400-104383800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr8:104383400-104383800	Flanking Active TSS	Placenta	Placenta
38	chr8:104383400-104383800	Flanking Active TSS	Fetal Thymus	thymus
39	chr8:104383400-104383800	Active TSS	Gastric	stomach
40	chr8:104383400-104383800	Active TSS	Left Ventricle	heart
41	chr8:104383400-104383800	Active TSS	Pancreas	Pancrea
42	chr8:104383400-104383800	Active TSS	Psoas Muscle	Psoas
43	chr8:104383400-104383800	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr8:104383400-104383800	Active TSS	Right Atrium	heart
45	chr8:104383400-104384000	Active TSS	H1 Cell Line	embryonic stem cell
46	chr8:104383400-104384000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:104383400-104384000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:104383400-104384000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:104383400-104384000	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr8:104383400-104384000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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