Variant report

Variant	rs67297326
Chromosome Location	chr4:76860935-76860936
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr4:76860878-76861224	K562	blood:	n/a	n/a
2	MAX	chr4:76860935-76861096	K562	blood:	n/a	n/a
3	POLR2A	chr4:76860729-76862379	GM12892	blood:	n/a	n/a
4	NR2F2	chr4:76860929-76862406	MCF-7	breast:	n/a	n/a
5	MAX	chr4:76860875-76861584	MCF-7	breast:	n/a	n/a
6	MXI1	chr4:76860858-76862599	IMR90	lung:	n/a	n/a
7	MAX	chr4:76860853-76862432	HepG2	liver:	n/a	n/a
8	MAX	chr4:76860862-76862474	MCF-7	breast:	n/a	n/a
9	SPI1	chr4:76860866-76861142	K562	blood:	n/a	n/a
10	E2F6	chr4:76860846-76861515	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUND	chr4:76860868-76861404	K562	blood:	n/a	n/a
12	POLR2A	chr4:76860895-76861474	GM12891	blood:	n/a	n/a
13	MAX	chr4:76860764-76862553	HCT-116	colon:	n/a	n/a
14	TEAD4	chr4:76860868-76861272	K562	blood:	n/a	n/a
15	POLR2A	chr4:76860900-76862382	GM18951	blood:	n/a	n/a
16	POLR2A	chr4:76860905-76862315	GM19099	blood:	n/a	n/a
17	POLR2A	chr4:76860793-76862484	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr4:76860856-76861470	GM12892	blood:	n/a	n/a
19	ELF1	chr4:76860827-76862481	GM12878	blood:	n/a	n/a
20	POLR2A	chr4:76860887-76862457	K562	blood:	n/a	n/a
21	SPI1	chr4:76860874-76861141	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:76860842-76862484	HL-60	blood:	n/a	n/a
23	POLR2A	chr4:76860912-76862285	GM18526	blood:	n/a	n/a
24	HDAC2	chr4:76860870-76862421	MCF-7	breast:	n/a	n/a
25	POLR2A	chr4:76860891-76862447	MCF-7	breast:	n/a	n/a
26	MYC	chr4:76860909-76862380	NB4	blood:	n/a	n/a
27	MAX	chr4:76860768-76862539	A549	lung:	n/a	n/a
28	MAX	chr4:76860876-76862321	NB4	blood:	n/a	n/a
29	POLR2A	chr4:76860890-76862482	GM12892	blood:	n/a	n/a
30	ELF1	chr4:76860781-76861505	MCF-7	breast:	n/a	n/a
31	POLR2A	chr4:76860909-76861712	K562	blood:	n/a	n/a
32	SPI1	chr4:76860851-76861222	GM12891	blood:	n/a	n/a
33	YY1	chr4:76860925-76861478	GM12892	blood:	n/a	n/a
34	MAX	chr4:76860904-76862513	HCT-116	colon:	n/a	n/a
35	MAX	chr4:76860820-76862524	K562	blood:	n/a	n/a
36	ZMIZ1	chr4:76860932-76861273	K562	blood:	n/a	n/a
37	ELF1	chr4:76860871-76861359	K562	blood:	n/a	n/a
38	SPI1	chr4:76860841-76861294	HL-60	blood:	n/a	n/a
39	RCOR1	chr4:76860818-76862440	K562	blood:	n/a	n/a
40	SPI1	chr4:76860861-76861447	HL-60	blood:	n/a	n/a
41	MAZ	chr4:76860885-76862451	K562	blood:	n/a	n/a
42	SPI1	chr4:76860726-76861386	GM12878	blood:	n/a	n/a
43	POLR2A	chr4:76860925-76861689	GM12878	blood:	n/a	n/a
44	POLR2A	chr4:76860899-76862426	NB4	blood:	n/a	n/a
45	POLR2A	chr4:76860759-76862512	SK-N-MC	brain:	n/a	n/a
46	SPI1	chr4:76860840-76861206	GM12891	blood:	n/a	n/a
47	HA-E2F1	chr4:76860914-76862534	MCF-7	breast:	n/a	n/a
48	POLR2A	chr4:76860855-76861651	HUVEC	blood vessel:	n/a	n/a
49	MAX	chr4:76860927-76862319	K562	blood:	n/a	n/a
50	E2F6	chr4:76860899-76862402	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:76860890-76860940	AG04450	lung:	fetal
2	chr4:76860890-76860940	BE2_C	brain:	n/a
3	chr4:76860890-76860940	SK-N-SH_RA	brain:	n/a
4	chr4:76860890-76860940	SK-N-SH	brain:	n/a
5	chr4:76860890-76860940	MCF10A-Er-Src	breast:	n/a
6	chr4:76860890-76860940	AG09309	skin:	n/a
7	chr4:76860890-76860940	Caco-2	colon:	n/a
8	chr4:76860890-76860940	NHDF-neo	bronchial:	n/a
9	chr4:76860890-76860940	PFSK-1	brain:	n/a
10	chr4:76860890-76860940	HepG2	liver:	n/a
11	chr4:76860890-76860940	CMK	blood:	n/a
12	chr4:76860890-76860940	HRCEpiC	kidney:	n/a
13	chr4:76860890-76860940	ovcar-3	ovarian:	n/a
14	chr4:76860890-76860940	Hela-S3	cervix:	n/a
15	chr4:76860890-76860940	HEK293	kidney:	embryo
16	chr4:76860890-76860940	BJ	skin:	n/a
17	chr4:76860890-76860940	HRE	kidney:	n/a
18	chr4:76860890-76860940	HUVEC	blood vessel:	n/a
19	chr4:76860890-76860940	ProgFib	skin:	n/a
20	chr4:76860890-76860940	K562	blood:	n/a
21	chr4:76860890-76860940	GM06990	blood:	n/a
22	chr4:76860890-76860940	AG04449	skin:	fetal
23	chr4:76860890-76860940	GM19239	blood:	n/a
24	chr4:76860890-76860940	AG10803	skin:	n/a
25	chr4:76860890-76860940	NH-A	brain:	n/a
26	chr4:76860890-76860940	SK-N-MC	brain:	n/a
27	chr4:76860890-76860940	HPAEpiC	pulmonary alveolar:	n/a
28	chr4:76860890-76860940	NHBE	bronchial:	n/a
29	chr4:76860890-76860940	A549	lung:	n/a
30	chr4:76860890-76860940	HEEpiC	esophagus:	n/a
31	chr4:76860890-76860940	NT2-D1	testis:	n/a
32	chr4:76860890-76860940	Hepatocyte	liver:	n/a
33	chr4:76860890-76860940	HNPCEpiC	eye:	n/a
34	chr4:76860890-76860940	HCM	heart:	n/a
35	chr4:76860890-76860940	HCT-116	colon:	n/a
36	chr4:76860890-76860940	HMEC	breast:	n/a
37	chr4:76860890-76860940	NB4	blood:	n/a
38	chr4:76860890-76860940	IMR90	lung:	fetal
39	chr4:76860890-76860940	GM12892	blood:	n/a
40	chr4:76860890-76860940	SAEC	small airway:	n/a
41	chr4:76860890-76860940	PrEC	prostate:	n/a
42	chr4:76860890-76860940	HRPEpiC	eye:	n/a
43	chr4:76860890-76860940	HIPEpiC	eye:	n/a
44	chr4:76860890-76860940	U87	brain:	n/a
45	chr4:76860890-76860940	AoSMC	blood vessel:	n/a
46	chr4:76860890-76860940	SKMC	muscle:	n/a
47	chr4:76860890-76860940	HAEpiC	amniotic membrane:	n/a
48	chr4:76860890-76860940	HL-60	blood:	n/a
49	chr4:76860890-76860940	AG09319	gingival:	n/a
50	chr4:76860890-76860940	LNCaP	prostate:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:76597293..76598968-chr4:76860443..76862946,2	K562	blood:
2	chr4:76860116..76861672-chr4:77068138..77069757,2	MCF-7	breast:
3	chr4:76860117..76861999-chr4:76911234..76914144,3	K562	blood:
4	chr4:76857067..76859381-chr4:76860422..76862398,2	K562	blood:
5	chr4:76859621..76862443-chr4:76895909..76899158,3	K562	blood:

No data

Variant related genes	Relation type
NAAA	TF binding region
NAAA	CpG island
ENSG00000198301	Chromatin interaction
ENSG00000138757	Chromatin interaction
ENSG00000138750	Chromatin interaction
ENSG00000138744	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10222911	1.00[ASN][1000 genomes]
rs1050176	0.97[ASN][1000 genomes]
rs10856871	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097192	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500200	0.97[ASN][1000 genomes]
rs12511861	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1554015	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17001275	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17001284	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1910907	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869461	0.97[ASN][1000 genomes]
rs28703679	1.00[ASN][1000 genomes]
rs3733236	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859412	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55964684	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56039229	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56105413	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56316945	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58909712	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59559903	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61279846	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532084	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66477189	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67210456	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67413521	0.85[ASN][1000 genomes]
rs67687266	0.88[ASN][1000 genomes]
rs6828744	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6834291	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847716	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857358	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72651379	0.90[EUR][1000 genomes]
rs72651387	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7349626	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670156	0.97[ASN][1000 genomes]
rs7671125	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696286	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76843400-76861000	Weak transcription	Small Intestine	intestine
2	chr4:76852400-76861000	Weak transcription	Aorta	Aorta
3	chr4:76852400-76861000	Weak transcription	Gastric	stomach
4	chr4:76852400-76861000	Weak transcription	Lung	lung
5	chr4:76857400-76861000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:76860000-76861000	Weak transcription	Left Ventricle	heart
7	chr4:76860200-76861000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:76860200-76861000	Flanking Active TSS	Dnd41	blood
9	chr4:76860400-76861000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr4:76860400-76861000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr4:76860400-76861000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr4:76860400-76861000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr4:76860400-76862600	Active TSS	A549	lung
14	chr4:76860600-76861000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:76860600-76861000	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr4:76860600-76861000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:76860600-76861000	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr4:76860600-76861000	Enhancers	Fetal Brain Male	brain
19	chr4:76860600-76861000	Enhancers	Stomach Mucosa	stomach
20	chr4:76860600-76861000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr4:76860600-76861200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr4:76860600-76861400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:76860600-76861400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:76860600-76861800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:76860600-76862000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:76860600-76862400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:76860600-76862600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr4:76860600-76862600	Active TSS	Colonic Mucosa	Colon
29	chr4:76860600-76862600	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr4:76860600-76862600	Active TSS	Rectal Smooth Muscle	rectum
31	chr4:76860800-76861000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr4:76860800-76861000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:76860800-76861000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:76860800-76861000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:76860800-76861000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr4:76860800-76861000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr4:76860800-76861000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
38	chr4:76860800-76861000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr4:76860800-76861000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr4:76860800-76861000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr4:76860800-76861000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:76860800-76861000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr4:76860800-76861000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr4:76860800-76861000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:76860800-76861000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr4:76860800-76861000	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr4:76860800-76861000	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr4:76860800-76861000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:76860800-76861000	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr4:76860800-76861000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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