Variant report

Variant	rs7825198
Chromosome Location	chr8:104384065-104384066
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	chr8:104383299-104385047	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
3	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
4	RAD21	chr8:104383970-104385893	HCT-116	colon:	n/a	chr8:104385611-104385621 chr8:104385611-104385625 chr8:104385609-104385621 chr8:104385607-104385626 chr8:104385610-104385623
5	POLR2A	chr8:104383704-104384300	MCF-7	breast:	n/a	n/a
6	POLR2A	chr8:104383545-104384160	GM12878	blood:	n/a	n/a
7	RAD21	chr8:104383359-104384138	SK-N-SH_RA	brain:	n/a	chr8:104383592-104383605
8	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
9	TCF12	chr8:104383503-104384164	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr8:104383920-104384070	HCPEpiC	choroid plexus:	n/a	n/a
11	E2F6	chr8:104383331-104384615	H1-hESC	embryonic stem cell:	n/a	chr8:104383636-104383645 chr8:104383767-104383774 chr8:104383725-104383737
12	SMC3	chr8:104383479-104386604	SK-N-SH	brain:	n/a	chr8:104385611-104385621 chr8:104385611-104385625 chr8:104384498-104384505 chr8:104385618-104385625
13	MYC	chr8:104383606-104384135	MCF-7	breast:	n/a	chr8:104383634-104383644 chr8:104383661-104383670
14	CTCF	chr8:104383980-104384130	WERI-Rb-1	eye:	n/a	n/a
15	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
16	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
17	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
18	YY1	chr8:104384050-104384902	SK-N-SH	brain:	n/a	n/a
19	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
20	TEAD4	chr8:104383479-104385028	SK-N-SH	brain:	n/a	n/a
21	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
22	CTCF	chr8:104383940-104384090	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr8:104383590-104386072	IMR90	lung:	n/a	n/a
24	HCFC1	chr8:104383817-104384109	K562	blood:	n/a	n/a
25	ZBTB7A	chr8:104383365-104384154	ECC-1	luminal epithelium:	n/a	n/a
26	CTCF	chr8:104383960-104384110	BJ	skin:	n/a	n/a
27	CTCF	chr8:104383967-104384069	MCF-7	breast:	n/a	n/a
28	HDAC2	chr8:104383306-104384322	MCF-7	breast:	n/a	n/a
29	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
30	ZNF143	chr8:104383985-104384097	H1-hESC	embryonic stem cell:	n/a	n/a
31	E2F6	chr8:104383330-104384108	K562	blood:	n/a	chr8:104383636-104383645 chr8:104383767-104383774 chr8:104383725-104383737
32	CTCF	chr8:104383980-104384130	SK-N-SH_RA	brain:	n/a	n/a
33	CHD2	chr8:104383806-104384112	HepG2	liver:	n/a	n/a
34	CCNT2	chr8:104383433-104384203	K562	blood:	n/a	n/a
35	POLR2A	chr8:104383527-104385057	HUVEC	blood vessel:	n/a	n/a
36	EP300	chr8:104383384-104384960	SK-N-SH	brain:	n/a	chr8:104384891-104384901 chr8:104383860-104383876 chr8:104383588-104383604 chr8:104383791-104383807 chr8:104384575-104384584
37	HMGN3	chr8:104383481-104384251	K562	blood:	n/a	n/a
38	MAX	chr8:104383353-104384959	SK-N-SH	brain:	n/a	chr8:104383634-104383644 chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383661-104383670 chr8:104383466-104383477 chr8:104383465-104383478
39	MYC	chr8:104383311-104384067	K562	blood:	n/a	chr8:104383634-104383644 chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383661-104383670 chr8:104383466-104383477 chr8:104383465-104383478
40	MAZ	chr8:104383513-104384128	K562	blood:	n/a	chr8:104383634-104383644 chr8:104383661-104383670
41	JUND	chr8:104384033-104386018	SK-N-SH	brain:	n/a	chr8:104384574-104384585 chr8:104384572-104384583
42	ZMIZ1	chr8:104383954-104384099	K562	blood:	n/a	n/a
43	TAF1	chr8:104383430-104385064	SK-N-SH	brain:	n/a	n/a
44	TCF12	chr8:104383394-104385161	SK-N-SH	brain:	n/a	chr8:104384891-104384900
45	POLR2A	chr8:104384018-104384106	HepG2	liver:	n/a	n/a
46	NFIC	chr8:104383467-104385068	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr8:104383920-104384070	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr8:104383920-104384070	HBMEC	blood vessel:	n/a	n/a
49	POLR2A	chr8:104383501-104384502	MCF-7	breast:	n/a	n/a
50	MAX	chr8:104383372-104384206	H1-hESC	embryonic stem cell:	n/a	chr8:104383634-104383644 chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383661-104383670 chr8:104383466-104383477 chr8:104383465-104383478

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	chr8:104309966..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	chr8:104383757..104385653-chr8:104425622..104427492,3	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
ENSG00000207399	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000164932	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000266289	Chromatin interaction
ENSG00000164930	Chromatin interaction
ENSG00000247081	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs61032159	1.00[EUR][1000 genomes]
rs6992876	0.85[AFR][1000 genomes]
rs6992964	0.85[AFR][1000 genomes]
rs7009152	0.83[AFR][1000 genomes]

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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104382800-104384200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr8:104382800-104384200	Active TSS	K562	blood
3	chr8:104383000-104384400	Weak transcription	Dnd41	blood
4	chr8:104383200-104384200	Active TSS	Primary T cells from cord blood	blood
5	chr8:104383200-104384200	Active TSS	Thymus	Thymus
6	chr8:104383200-104384400	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr8:104383200-104384400	Bivalent/Poised TSS	NHEK	skin
8	chr8:104383400-104384200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:104383400-104384200	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr8:104383400-104384200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
11	chr8:104383400-104384200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr8:104383400-104384200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
13	chr8:104383400-104384200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
14	chr8:104383400-104384200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:104383400-104384200	Active TSS	Brain Angular Gyrus	brain
16	chr8:104383400-104384200	Active TSS	Brain Anterior Caudate	brain
17	chr8:104383400-104384200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
18	chr8:104383400-104384200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr8:104383400-104384200	Flanking Active TSS	Lung	lung
20	chr8:104383400-104384200	Active TSS	GM12878-XiMat	blood
21	chr8:104383400-104384200	Flanking Active TSS	HMEC	breast
22	chr8:104383400-104384200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
23	chr8:104383400-104384400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr8:104383400-104384400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr8:104383400-104384400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:104383400-104384400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:104383400-104384400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:104383400-104384400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:104383400-104384400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
30	chr8:104383400-104384400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr8:104383400-104384400	Active TSS	Rectal Smooth Muscle	rectum
32	chr8:104383400-104384400	Active TSS	NHLF	lung
33	chr8:104383400-104384600	Flanking Active TSS	Right Ventricle	heart
34	chr8:104383400-104384600	Active TSS	HSMM	muscle
35	chr8:104383400-104384800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr8:104383400-104385000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:104383400-104385000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:104383400-104385000	Active TSS	Fetal Kidney	kidney
39	chr8:104383400-104385000	Active TSS	Placenta Amnion	Placenta Amnion
40	chr8:104383400-104385400	Active TSS	Aorta	Aorta
41	chr8:104383400-104386400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:104383400-104386600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:104383600-104384200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
44	chr8:104383600-104384200	Bivalent/Poised TSS	Fetal Stomach	stomach
45	chr8:104383600-104384400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr8:104383600-104384400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
47	chr8:104383600-104384400	Bivalent Enhancer	Fetal Brain Male	brain
48	chr8:104383600-104384400	Flanking Active TSS	Ovary	ovary
49	chr8:104383600-104384400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
50	chr8:104383600-104384400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links