Variant report

Variant	rs35420592
Chromosome Location	chr8:124780387-124780388
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	POLR2A	chr8:124780297-124780984	SK-N-SH	brain:	n/a	n/a
2	CHD2	chr8:124780196-124781268	Hela-S3	cervix:	n/a	chr8:124781253-124781260 chr8:124780882-124780892 chr8:124780584-124780594
3	MTA3	chr8:124780267-124780993	GM12878	blood:	n/a	n/a
4	TAF1	chr8:124780150-124781117	PFSK-1	brain:	n/a	n/a
5	CHD1	chr8:124779752-124781938	IMR90	lung:	n/a	chr8:124781253-124781260 chr8:124780882-124780892 chr8:124780584-124780594
6	TAF1	chr8:124780295-124781101	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr8:124780299-124780978	K562	blood:	n/a	n/a
8	MAX	chr8:124779871-124781007	A549	lung:	n/a	n/a
9	GABPA	chr8:124780054-124781218	A549	lung:	n/a	chr8:124780539-124780548
10	POLR2A	chr8:124780270-124781043	A549	lung:	n/a	n/a
11	IRF1	chr8:124780368-124780909	K562	blood:	n/a	chr8:124780582-124780596 chr8:124780628-124780642 chr8:124780604-124780618
12	SP4	chr8:124780233-124780879	H1-hESC	embryonic stem cell:	n/a	chr8:124780602-124780618
13	POLR2A	chr8:124780300-124781291	GM19193	blood:	n/a	n/a
14	POLR2A	chr8:124780375-124781204	GM12892	blood:	n/a	n/a
15	POLR2A	chr8:124780257-124780995	H1-neurons	neurons:	n/a	n/a
16	CEBPD	chr8:124780339-124780897	HepG2	liver:	n/a	n/a
17	SRF	chr8:124780064-124781335	MCF-7	breast:	n/a	chr8:124780632-124780642
18	MAX	chr8:124780196-124781356	MCF-7	breast:	n/a	n/a
19	POLR2A	chr8:124780195-124781033	K562	blood:	n/a	n/a
20	TAF1	chr8:124780314-124780985	K562	blood:	n/a	n/a
21	SP1	chr8:124780346-124780961	A549	lung:	n/a	chr8:124780630-124780642 chr8:124780631-124780640 chr8:124780605-124780615 chr8:124780631-124780641 chr8:124780585-124780594 chr8:124780630-124780642 chr8:124780586-124780595 chr8:124780631-124780641 chr8:124780585-124780594 chr8:124780584-124780596 chr8:124780605-124780615 chr8:124780584-124780596 chr8:124780631-124780640 chr8:124780632-124780641 chr8:124780631-124780645
22	SMARCB1	chr8:124780254-124781327	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr8:124780257-124781006	PANC-1	pancreas:	n/a	n/a
24	YY1	chr8:124780371-124781066	GM12878	blood:	n/a	n/a
25	MAX	chr8:124779918-124781751	MCF-7	breast:	n/a	n/a
26	TAF1	chr8:124780306-124781031	A549	lung:	n/a	n/a
27	POLR2A	chr8:124780161-124781024	U87	brain:	n/a	n/a
28	GABPA	chr8:124780256-124781113	SK-N-SH	brain:	n/a	chr8:124780539-124780548
29	POLR2A	chr8:124780268-124781349	K562	blood:	n/a	n/a
30	POLR2A	chr8:124780251-124781287	K562	blood:	n/a	n/a
31	POLR2A	chr8:124780370-124781288	GM12878	blood:	n/a	n/a
32	ELF1	chr8:124779969-124780900	K562	blood:	n/a	n/a
33	TCF12	chr8:124780243-124781373	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr8:124780386-124781236	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr8:124780160-124781358	K562	blood:	n/a	n/a
36	CREB1	chr8:124780351-124780922	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr8:124780369-124781109	H1-hESC	embryonic stem cell:	n/a	n/a
38	ELF1	chr8:124779969-124781329	GM12878	blood:	n/a	n/a
39	POLR2A	chr8:124780280-124780951	HepG2	liver:	n/a	n/a
40	MYBL2	chr8:124780368-124780986	HepG2	liver:	n/a	n/a
41	POLR2A	chr8:124780280-124781062	K562	blood:	n/a	n/a
42	POLR2A	chr8:124779955-124781057	PFSK-1	brain:	n/a	n/a
43	NR2F2	chr8:124780092-124780970	K562	blood:	n/a	n/a
44	POLR2A	chr8:124779994-124781281	PFSK-1	brain:	n/a	n/a
45	POLR2A	chr8:124780296-124781255	GM18951	blood:	n/a	n/a
46	FOXP2	chr8:124780362-124780931	SK-N-MC	brain:	n/a	n/a
47	POLR2A	chr8:124780245-124781076	HUVEC	blood vessel:	n/a	n/a
48	IRF1	chr8:124780365-124780889	K562	blood:	n/a	chr8:124780582-124780596 chr8:124780628-124780642 chr8:124780604-124780618
49	HA-E2F1	chr8:124780154-124781424	MCF-7	breast:	n/a	chr8:124781253-124781260 chr8:124780539-124780548 chr8:124781249-124781260
50	MAX	chr8:124780272-124780887	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:124780357-124780407	Caco-2	colon:	n/a
2	chr8:124780351-124780401	AG09309	skin:	n/a
3	chr8:124780351-124780401	ovcar-3	ovarian:	n/a
4	chr8:124780357-124780407	HIPEpiC	eye:	n/a
5	chr8:124780357-124780407	PANC-1	pancreas:	n/a
6	chr8:124780357-124780407	HRPEpiC	eye:	n/a
7	chr8:124780357-124780407	NHDF-neo	bronchial:	n/a
8	chr8:124780357-124780407	NH-A	brain:	n/a
9	chr8:124780357-124780407	HAEpiC	amniotic membrane:	n/a
10	chr8:124780351-124780401	GM12892	blood:	n/a
11	chr8:124780357-124780407	AG09309	skin:	n/a
12	chr8:124780357-124780407	NB4	blood:	n/a
13	chr8:124780351-124780401	HEEpiC	esophagus:	n/a
14	chr8:124780351-124780401	BE2_C	brain:	n/a
15	chr8:124780357-124780407	A549	lung:	n/a
16	chr8:124780351-124780401	K562	blood:	n/a
17	chr8:124780351-124780401	LNCaP	prostate:	n/a
18	chr8:124780351-124780401	HL-60	blood:	n/a
19	chr8:124780357-124780407	GM19239	blood:	n/a
20	chr8:124780357-124780407	HepG2	liver:	n/a
21	chr8:124780351-124780401	MCF-7	breast:	n/a
22	chr8:124780357-124780407	GM06990	blood:	n/a
23	chr8:124780357-124780407	AoSMC	blood vessel:	n/a
24	chr8:124780351-124780401	Hela-S3	cervix:	n/a
25	chr8:124780351-124780401	HEK293	kidney:	embryo
26	chr8:124780357-124780407	T-47D	breast:	n/a
27	chr8:124780357-124780407	Jurkat	blood:	n/a
28	chr8:124780357-124780407	GM12878	blood:	n/a
29	chr8:124780357-124780407	ovcar-3	ovarian:	n/a
30	chr8:124780351-124780401	AG10803	skin:	n/a
31	chr8:124780351-124780401	H1-hESC	embryonic stem cell:	embryo
32	chr8:124780351-124780401	HCT-116	colon:	n/a
33	chr8:124780357-124780407	ECC-1	luminal epithelium:	n/a
34	chr8:124780357-124780407	PFSK-1	brain:	n/a
35	chr8:124780351-124780401	RPTEC	kidney:	n/a
36	chr8:124780357-124780407	HNPCEpiC	eye:	n/a
37	chr8:124780351-124780401	SAEC	small airway:	n/a
38	chr8:124780351-124780401	Caco-2	colon:	n/a
39	chr8:124780351-124780401	GM12891	blood:	n/a
40	chr8:124780357-124780407	PrEC	prostate:	n/a
41	chr8:124780351-124780401	HCF	heart:	n/a
42	chr8:124780351-124780401	Jurkat	blood:	n/a
43	chr8:124780351-124780401	NHBE	bronchial:	n/a
44	chr8:124780351-124780401	T-47D	breast:	n/a
45	chr8:124780357-124780407	K562	blood:	n/a
46	chr8:124780351-124780401	Hepatocyte	liver:	n/a
47	chr8:124780357-124780407	ProgFib	skin:	n/a
48	chr8:124780357-124780407	BE2_C	brain:	n/a
49	chr8:124780351-124780401	MCF10A-Er-Src	breast:	n/a
50	chr8:124780357-124780407	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:1302797..1303588-chr8:124780278..124780843,2	Hela-S3	cervix:
2	chr8:124779119..124781941-chr8:125550806..125552574,2	MCF-7	breast:
3	chr8:124778149..124780691-chr9:110801897..110804862,2	MCF-7	breast:
4	chr8:124780302..124782573-chr8:125486403..125488504,7	MCF-7	breast:
5	chr8:124778654..124780611-chr8:124799801..124801881,2	MCF-7	breast:
6	chr6:127664357..127665118-chr8:124780247..124780945,2	HCT-116	colon:
7	chr8:124630464..124632605-chr8:124778589..124780623,2	MCF-7	breast:
8	chr8:124748655..124751535-chr8:124779405..124781112,2	MCF-7	breast:
9	chr7:143208372..143211221-chr8:124779157..124780732,2	MCF-7	breast:
10	chr8:124428663..124430757-chr8:124778757..124780951,2	K562	blood:
11	chr8:124427993..124430634-chr8:124780278..124783215,3	MCF-7	breast:
12	chr20:49341430..49342089-chr8:124780067..124780584,2	HCT-116	colon:

Variant related genes	Relation type
FAM91A1	TF binding region
FAM91A1	CpG island
ENSG00000213557	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000104537	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000176510	Chromatin interaction
ENSG00000108953	Chromatin interaction
ENSG00000156795	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000093144	Chromatin interaction
ENSG00000170881	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10429369	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11986791	0.95[EUR][1000 genomes]
rs12334564	0.88[ASN][1000 genomes]
rs12546891	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12550235	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13253599	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13261392	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13275308	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13278088	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13278192	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16898871	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1835691	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1966620	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2272683	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34253744	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34354351	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34850344	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4870867	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4871414	0.94[EUR][1000 genomes]
rs4871415	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6470186	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66515434	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67139073	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67237665	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6985019	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6986269	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6988602	0.97[EUR][1000 genomes]
rs6998271	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7004482	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7012004	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7014688	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7017174	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73333742	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73337418	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7815695	0.86[ASN][1000 genomes]
rs7827025	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7846164	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9297674	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9297675	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv6373	chr8:124741567-124786609	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
3	esv3411799	chr8:124779296-124782144	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124779600-124781400	Active TSS	Fetal Lung	lung
2	chr8:124779800-124780400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr8:124779800-124780400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:124779800-124780400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr8:124779800-124780400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:124779800-124780400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr8:124779800-124780400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr8:124779800-124780400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:124779800-124780400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr8:124779800-124780600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:124779800-124781200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:124779800-124781200	Active TSS	Primary T cells from cord blood	blood
13	chr8:124779800-124781200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:124779800-124781200	Active TSS	Brain Germinal Matrix	brain
15	chr8:124779800-124781200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr8:124779800-124781400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:124779800-124781400	Active TSS	Brain Angular Gyrus	brain
18	chr8:124779800-124781400	Active TSS	Brain Anterior Caudate	brain
19	chr8:124779800-124781400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:124779800-124781600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:124779800-124781600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr8:124779800-124781600	Active TSS	Esophagus	oesophagus
23	chr8:124779800-124781600	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr8:124779800-124781800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:124779800-124782000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:124779800-124782200	Active TSS	H1 Cell Line	embryonic stem cell
27	chr8:124779800-124782800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr8:124779800-124783200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:124780000-124780400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr8:124780000-124780400	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr8:124780000-124780400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr8:124780000-124780400	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr8:124780000-124780400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr8:124780000-124780400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:124780000-124780400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr8:124780000-124780400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr8:124780000-124780400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:124780000-124780400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr8:124780000-124780400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
40	chr8:124780000-124780400	Active TSS	Right Atrium	heart
41	chr8:124780000-124780600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr8:124780000-124781000	Active TSS	HepG2	liver
43	chr8:124780000-124781200	Active TSS	Fetal Brain Male	brain
44	chr8:124780000-124781200	Active TSS	Fetal Brain Female	brain
45	chr8:124780000-124781400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:124780000-124781400	Active TSS	Brain Cingulate Gyrus	brain
47	chr8:124780000-124781400	Active TSS	Colon Smooth Muscle	Colon
48	chr8:124780000-124781400	Active TSS	Placenta Amnion	Placenta Amnion
49	chr8:124780000-124781600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:124780000-124781600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links