Variant report

Variant	rs574942938
Chromosome Location	chr8:104383475-104383476
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	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	MYC	chr8:104383425-104383477	K562	blood:	n/a	chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383466-104383477
4	TAF1	chr8:104383468-104383810	K562	blood:	n/a	n/a
5	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
6	CTCF	chr8:104383257-104383513	GM19239	blood:	n/a	n/a
7	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
8	CTCF	chr8:104383380-104383530	WERI-Rb-1	eye:	n/a	n/a
9	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
10	CTCF	chr8:104383460-104383610	AG09309	skin:	n/a	n/a
11	CTCF	chr8:104383420-104383570	GM12872	blood:	n/a	n/a
12	CTCF	chr8:104383277-104383608	MCF-7	breast:	n/a	n/a
13	UBTF	chr8:104383396-104384063	K562	blood:	n/a	n/a
14	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
15	RAD21	chr8:104383359-104384138	SK-N-SH_RA	brain:	n/a	chr8:104383592-104383605
16	CTCF	chr8:104383400-104383550	HCPEpiC	choroid plexus:	n/a	n/a
17	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
18	CTCF	chr8:104383360-104383510	GM12873	blood:	n/a	n/a
19	CTCF	chr8:104383380-104383530	HRPEpiC	eye:	n/a	n/a
20	ZBTB7A	chr8:104383419-104384007	K562	blood:	n/a	n/a
21	ZBTB7A	chr8:104383352-104383808	K562	blood:	n/a	n/a
22	CTCF	chr8:104383260-104383570	MCF-7	breast:	n/a	n/a
23	ZNF143	chr8:104383385-104383963	GM12878	blood:	n/a	n/a
24	POLR2A	chr8:104383422-104383708	K562	blood:	n/a	n/a
25	CTCF	chr8:104383303-104383481	K562	blood:	n/a	n/a
26	CTCF	chr8:104383420-104383570	AG09319	gingival:	n/a	n/a
27	CTCF	chr8:104383400-104383550	GM12878	blood:	n/a	n/a
28	E2F6	chr8:104383331-104384615	H1-hESC	embryonic stem cell:	n/a	chr8:104383636-104383645 chr8:104383767-104383774 chr8:104383725-104383737
29	HCFC1	chr8:104383382-104383595	K562	blood:	n/a	n/a
30	RUNX3	chr8:104383295-104383935	GM12878	blood:	n/a	n/a
31	CTCF	chr8:104383460-104383610	Caco-2	colon:	n/a	n/a
32	CTCF	chr8:104383460-104383610	WERI-Rb-1	eye:	n/a	n/a
33	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
34	CTCF	chr8:104383380-104383530	HFF-Myc	foreskin:	n/a	n/a
35	CTCF	chr8:104383400-104383550	GM12871	blood:	n/a	n/a
36	CTCF	chr8:104383400-104383550	GM12875	blood:	n/a	n/a
37	CTCF	chr8:104383400-104383550	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr8:104383400-104383550	HMEC	breast:	n/a	n/a
39	HEY1	chr8:104383342-104383954	K562	blood:	n/a	chr8:104383864-104383879 chr8:104383857-104383872 chr8:104383467-104383476
40	CTCF	chr8:104383420-104383570	HepG2	liver:	n/a	n/a
41	ZBTB7A	chr8:104383401-104383786	HepG2	liver:	n/a	n/a
42	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
43	UBTF	chr8:104383467-104384005	K562	blood:	n/a	n/a
44	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
45	ZBTB7A	chr8:104383471-104383702	HepG2	liver:	n/a	n/a
46	HEY1	chr8:104383352-104383937	K562	blood:	n/a	chr8:104383864-104383879 chr8:104383857-104383872 chr8:104383467-104383476
47	E2F6	chr8:104383346-104384049	H1-hESC	embryonic stem cell:	n/a	chr8:104383636-104383645 chr8:104383767-104383774 chr8:104383725-104383737
48	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
49	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
50	CTCF	chr8:104383380-104383530	GM12867	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:104383433-104383483	HCPEpiC	choroid plexus:	n/a
2	chr8:104383433-104383483	HCF	heart:	n/a
3	chr8:104383433-104383483	ECC-1	luminal epithelium:	n/a
4	chr8:104383433-104383483	T-47D	breast:	n/a
5	chr8:104383433-104383483	AG09319	gingival:	n/a
6	chr8:104383433-104383483	LNCaP	prostate:	n/a
7	chr8:104383433-104383483	HMEC	breast:	n/a
8	chr8:104383433-104383483	Caco-2	colon:	n/a
9	chr8:104383433-104383483	RPTEC	kidney:	n/a
10	chr8:104383433-104383483	HIPEpiC	eye:	n/a
11	chr8:104383433-104383483	AG04449	skin:	fetal
12	chr8:104383433-104383483	IMR90	lung:	fetal
13	chr8:104383433-104383483	NHBE	bronchial:	n/a
14	chr8:104383433-104383483	PANC-1	pancreas:	n/a
15	chr8:104383433-104383483	H1-hESC	embryonic stem cell:	embryo
16	chr8:104383433-104383483	SK-N-SH	brain:	n/a
17	chr8:104383433-104383483	GM12891	blood:	n/a
18	chr8:104383433-104383483	MCF10A-Er-Src	breast:	n/a
19	chr8:104383433-104383483	HPAEpiC	pulmonary alveolar:	n/a
20	chr8:104383433-104383483	BJ	skin:	n/a
21	chr8:104383433-104383483	NT2-D1	testis:	n/a
22	chr8:104383433-104383483	NH-A	brain:	n/a
23	chr8:104383433-104383483	MCF-7	breast:	n/a
24	chr8:104383433-104383483	ProgFib	skin:	n/a
25	chr8:104383433-104383483	AoSMC	blood vessel:	n/a
26	chr8:104383433-104383483	HEEpiC	esophagus:	n/a
27	chr8:104383433-104383483	Hepatocyte	liver:	n/a
28	chr8:104383433-104383483	Jurkat	blood:	n/a
29	chr8:104383433-104383483	GM12892	blood:	n/a
30	chr8:104383433-104383483	K562	blood:	n/a
31	chr8:104383433-104383483	SAEC	small airway:	n/a
32	chr8:104383433-104383483	HCM	heart:	n/a
33	chr8:104383433-104383483	HCT-116	colon:	n/a
34	chr8:104383433-104383483	HRPEpiC	eye:	n/a
35	chr8:104383433-104383483	AG10803	skin:	n/a
36	chr8:104383433-104383483	HepG2	liver:	n/a
37	chr8:104383433-104383483	Hela-S3	cervix:	n/a
38	chr8:104383433-104383483	PFSK-1	brain:	n/a
39	chr8:104383433-104383483	SK-N-SH_RA	brain:	n/a
40	chr8:104383433-104383483	SKMC	muscle:	n/a
41	chr8:104383433-104383483	HNPCEpiC	eye:	n/a
42	chr8:104383433-104383483	CMK	blood:	n/a
43	chr8:104383433-104383483	GM19239	blood:	n/a
44	chr8:104383433-104383483	GM06990	blood:	n/a
45	chr8:104383433-104383483	BE2_C	brain:	n/a
46	chr8:104383433-104383483	HL-60	blood:	n/a
47	chr8:104383433-104383483	GM12878	blood:	n/a
48	chr8:104383433-104383483	A549	lung:	n/a
49	chr8:104383433-104383483	HEK293	kidney:	embryo
50	chr8:104383433-104383483	AG09309	skin:	n/a

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

Variant related genes	Relation type
CTHRC1	TF binding region
CTHRC1	CpG island
ENSG00000266289	Chromatin interaction
ENSG00000247081	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000207399	Chromatin interaction
ENSG00000164930	Chromatin interaction
ENSG00000164932	Chromatin interaction
ENSG00000164934	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:117 , 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	chr8:104383200-104383600	Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr8:104383200-104383800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr8:104383200-104383800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr8:104383200-104384000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr8:104383200-104384000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr8:104383200-104384000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:104383200-104384000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
14	chr8:104383200-104384200	Active TSS	Primary T cells from cord blood	blood
15	chr8:104383200-104384200	Active TSS	Thymus	Thymus
16	chr8:104383200-104384400	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr8:104383200-104384400	Bivalent/Poised TSS	NHEK	skin
18	chr8:104383400-104383600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:104383400-104383600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:104383400-104383600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr8:104383400-104383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:104383400-104383600	Active TSS	Brain Hippocampus Middle	brain
23	chr8:104383400-104383600	Active TSS	Colonic Mucosa	Colon
24	chr8:104383400-104383600	Enhancers	Fetal Heart	heart
25	chr8:104383400-104383600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
26	chr8:104383400-104383600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
27	chr8:104383400-104383600	Active TSS	Ovary	ovary
28	chr8:104383400-104383600	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr8:104383400-104383600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
30	chr8:104383400-104383600	Enhancers	Small Intestine	intestine
31	chr8:104383400-104383600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
32	chr8:104383400-104383600	Flanking Active TSS	Spleen	Spleen
33	chr8:104383400-104383600	Flanking Active TSS	NH-A	brain
34	chr8:104383400-104383800	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr8:104383400-104383800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:104383400-104383800	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr8:104383400-104383800	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr8:104383400-104383800	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr8:104383400-104383800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:104383400-104383800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:104383400-104383800	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr8:104383400-104383800	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:104383400-104383800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
44	chr8:104383400-104383800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
45	chr8:104383400-104383800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr8:104383400-104383800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:104383400-104383800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:104383400-104383800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:104383400-104383800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr8:104383400-104383800	Active TSS	Brain Cingulate Gyrus	brain

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