Variant report

Variant	rs4876680
Chromosome Location	chr8:117777914-117777915
allele	C/G
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	JUND	chr8:117777617-117779056	K562	blood:	n/a	chr8:117778342-117778351
2	BHLHE40	chr8:117777833-117779350	K562	blood:	n/a	n/a
3	MAFK	chr8:117777700-117779012	K562	blood:	n/a	n/a
4	TBP	chr8:117777840-117778935	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr8:117777901-117779343	K562	blood:	n/a	n/a
6	CEBPD	chr8:117777873-117779007	K562	blood:	n/a	n/a
7	ZMIZ1	chr8:117777747-117778990	K562	blood:	n/a	n/a
8	SIN3AK20	chr8:117777881-117780032	MCF-7	breast:	n/a	n/a
9	YY1	chr8:117777845-117778337	H1-hESC	embryonic stem cell:	n/a	chr8:117778140-117778152
10	CTCF	chr8:117777773-117779942	A549	lung:	n/a	chr8:117778564-117778580
11	POLR2A	chr8:117777819-117779058	PANC-1	pancreas:	n/a	n/a
12	YY1	chr8:117777899-117779107	GM12878	blood:	n/a	chr8:117778140-117778152 chr8:117779041-117779052
13	POLR2A	chr8:117777876-117779165	U87	brain:	n/a	n/a
14	POLR2A	chr8:117777876-117778316	K562	blood:	n/a	n/a
15	HEY1	chr8:117777893-117779531	K562	blood:	n/a	n/a
16	TCF7L2	chr8:117777867-117778831	PANC-1	pancreas:	n/a	n/a
17	MAX	chr8:117777842-117779884	HCT-116	colon:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
18	POLR2A	chr8:117777832-117779300	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr8:117777914-117779558	HepG2	liver:	n/a	n/a
20	NFATC1	chr8:117777907-117779065	GM12878	blood:	n/a	n/a
21	CEBPB	chr8:117777864-117778944	K562	blood:	n/a	n/a
22	CUX1	chr8:117777551-117778836	K562	blood:	n/a	n/a
23	SETDB1	chr8:117777157-117778000	U2OS	brain:	n/a	n/a
24	CEBPB	chr8:117777823-117779270	MCF-7	breast:	n/a	n/a
25	YY1	chr8:117777882-117778313	GM12892	blood:	n/a	chr8:117778140-117778152
26	MAX	chr8:117777815-117779896	MCF-7	breast:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
27	CBX3	chr8:117777305-117779371	K562	blood:	n/a	n/a
28	POLR2A	chr8:117777914-117779338	Hela-S3	cervix:	n/a	n/a
29	MYC	chr8:117777793-117779736	K562	blood:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
30	FOXM1	chr8:117777896-117779523	GM12878	blood:	n/a	n/a
31	POLR2A	chr8:117777897-117778997	HepG2	liver:	n/a	n/a
32	HEY1	chr8:117777908-117778993	HepG2	liver:	n/a	n/a
33	SPI1	chr8:117777827-117778112	K562	blood:	n/a	n/a
34	MXI1	chr8:117777838-117780600	SK-N-SH	brain:	n/a	chr8:117779140-117779149
35	GABPA	chr8:117777652-117779900	MCF-7	breast:	n/a	chr8:117778553-117778567 chr8:117778556-117778567 chr8:117778556-117778565 chr8:117779136-117779145
36	MAFF	chr8:117777735-117778523	K562	blood:	n/a	n/a
37	YY1	chr8:117777866-117778917	A549	lung:	n/a	chr8:117778140-117778152
38	POLR2A	chr8:117777754-117779689	K562	blood:	n/a	n/a
39	IRF1	chr8:117777523-117779029	K562	blood:	n/a	n/a
40	ELF1	chr8:117777867-117779308	MCF-7	breast:	n/a	chr8:117778745-117778758 chr8:117778747-117778756 chr8:117778746-117778757 chr8:117778746-117778757
41	MXI1	chr8:117777830-117780660	IMR90	lung:	n/a	chr8:117779140-117779149
42	GABPA	chr8:117777830-117779805	A549	lung:	n/a	chr8:117778553-117778567 chr8:117778556-117778567 chr8:117778556-117778565 chr8:117779136-117779145
43	EP300	chr8:117777615-117778917	K562	blood:	n/a	chr8:117778340-117778354
44	POLR2A	chr8:117777823-117779324	K562	blood:	n/a	n/a
45	YY1	chr8:117777829-117778372	K562	blood:	n/a	chr8:117778140-117778152
46	POLR2A	chr8:117777849-117779796	K562	blood:	n/a	n/a
47	MAX	chr8:117777781-117779516	A549	lung:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
48	JUN	chr8:117777342-117777979	K562	blood:	n/a	chr8:117777409-117777421
49	ELF1	chr8:117777910-117778270	K562	blood:	n/a	n/a
50	REST	chr8:117777853-117779388	HL-60	blood:	n/a	chr8:117779037-117779047 chr8:117779211-117779220

No.	Distal block	Cell Line	Cell type
1	chr8:117776578..117778707-chr8:117885688..117887716,2	MCF-7	breast:
2	chr8:117777450..117780279-chr8:117883824..117887176,3	MCF-7	breast:
3	chr8:117775214..117779057-chr8:117886515..117888588,5	K562	blood:
4	chr8:117766057..117771164-chr8:117775647..117780363,13	MCF-7	breast:
5	chr8:117777051..117780452-chr8:117884154..117888588,6	K562	blood:
6	chr8:117741427..117743195-chr8:117775678..117778082,2	MCF-7	breast:

Variant related genes	Relation type
UTP23	TF binding region
ENSG00000264875	Chromatin interaction
ENSG00000147677	Chromatin interaction
ENSG00000164754	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10089815	0.82[ASN][1000 genomes]
rs10094452	0.85[ASN][1000 genomes]
rs10095889	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10104144	0.89[ASN][1000 genomes]
rs10109369	0.82[ASN][1000 genomes]
rs10283122	0.92[ASN][1000 genomes]
rs10283129	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505284	0.80[ASN][1000 genomes]
rs10808485	0.91[ASN][1000 genomes]
rs11781754	0.80[ASN][1000 genomes]
rs11783824	0.80[ASN][1000 genomes]
rs12546186	0.80[ASN][1000 genomes]
rs12548402	0.90[ASN][1000 genomes]
rs12675074	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12675093	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13250873	0.81[ASN][1000 genomes]
rs13258789	0.85[ASN][1000 genomes]
rs1374299	0.84[ASN][1000 genomes]
rs17664079	0.82[ASN][1000 genomes]
rs1867841	0.83[ASN][1000 genomes]
rs2121339	0.89[ASN][1000 genomes]
rs34672734	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34701891	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35682273	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4145242	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4372028	0.89[ASN][1000 genomes]
rs4449824	0.83[ASN][1000 genomes]
rs4464999	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4514005	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4532623	0.82[ASN][1000 genomes]
rs4876365	0.82[ASN][1000 genomes]
rs4876671	0.82[ASN][1000 genomes]
rs4876672	0.81[ASN][1000 genomes]
rs4876675	0.85[ASN][1000 genomes]
rs4876679	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62510194	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6469660	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6983034	0.83[ASN][1000 genomes]
rs6988190	0.86[ASN][1000 genomes]
rs6990665	0.84[ASN][1000 genomes]
rs6992589	0.87[ASN][1000 genomes]
rs7006087	0.81[ASN][1000 genomes]
rs7013007	0.86[ASN][1000 genomes]
rs7014156	0.84[ASN][1000 genomes]
rs7814084	0.89[ASN][1000 genomes]
rs7817878	0.83[ASN][1000 genomes]
rs7828774	0.84[ASN][1000 genomes]
rs7836226	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117768800-117778000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:117774800-117778000	Weak transcription	Fetal Lung	lung
3	chr8:117775200-117778000	Weak transcription	Left Ventricle	heart
4	chr8:117777400-117779200	Active TSS	Liver	Liver
5	chr8:117777600-117778000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr8:117777600-117778200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:117777600-117778200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:117777600-117778200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr8:117777600-117778400	Flanking Active TSS	K562	blood
10	chr8:117777600-117779200	Active TSS	Duodenum Mucosa	Duodenum
11	chr8:117777600-117779400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr8:117777600-117779400	Active TSS	Stomach Smooth Muscle	stomach
13	chr8:117777600-117779600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr8:117777600-117779800	Active TSS	A549	lung
15	chr8:117777800-117778000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:117777800-117778000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:117777800-117778000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
18	chr8:117777800-117778000	Active TSS	Primary B cells from cord blood	blood
19	chr8:117777800-117778000	Enhancers	Primary B cells from peripheral blood	blood
20	chr8:117777800-117778000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr8:117777800-117778000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:117777800-117778000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:117777800-117778000	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr8:117777800-117778000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:117777800-117778000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:117777800-117778000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:117777800-117778000	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr8:117777800-117778000	Active TSS	Fetal Kidney	kidney
29	chr8:117777800-117778000	Enhancers	Fetal Muscle Leg	muscle
30	chr8:117777800-117778000	Enhancers	Stomach Mucosa	stomach
31	chr8:117777800-117778000	Flanking Active TSS	HepG2	liver
32	chr8:117777800-117778000	Enhancers	HMEC	breast
33	chr8:117777800-117778000	Active TSS	NHLF	lung
34	chr8:117777800-117778200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr8:117777800-117778200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:117777800-117778200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr8:117777800-117778200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr8:117777800-117778200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:117777800-117778200	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr8:117777800-117778200	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr8:117777800-117778200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr8:117777800-117778200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr8:117777800-117778400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:117777800-117778400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:117777800-117778400	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr8:117777800-117778400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr8:117777800-117778400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr8:117777800-117778400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:117777800-117778400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr8:117777800-117778400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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