Variant report

Variant	rs13126007
Chromosome Location	chr4:76862255-76862256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:234)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:234 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:76862171-76862402	Pancreas_OC	pancreas:	n/a	n/a
2	CTCF	chr4:76862221-76862366	GM20000	blood:	n/a	n/a
3	POLR2A	chr4:76861805-76862289	K562	blood:	n/a	n/a
4	POLR2A	chr4:76861823-76862315	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr4:76862107-76862369	SK-N-SH_RA	brain:	n/a	n/a
6	E2F6	chr4:76861940-76862406	K562	blood:	n/a	n/a
7	JUND	chr4:76861707-76862432	K562	blood:	n/a	n/a
8	CHD2	chr4:76861800-76862327	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr4:76862158-76862351	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr4:76862155-76862408	GM13976	blood:	n/a	n/a
11	RAD21	chr4:76862173-76862370	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr4:76862162-76862363	Gliobla	brain:	n/a	n/a
13	POLR2A	chr4:76861848-76862416	H1-neurons	neurons:	n/a	n/a
14	CTCF	chr4:76862148-76862389	GM19240	blood:	n/a	n/a
15	ZEB1	chr4:76862119-76862435	GM12878	blood:	n/a	n/a
16	POLR2A	chr4:76860729-76862379	GM12892	blood:	n/a	n/a
17	GABPA	chr4:76861714-76862451	H1-hESC	embryonic stem cell:	n/a	n/a
18	NR2F2	chr4:76860929-76862406	MCF-7	breast:	n/a	n/a
19	CEBPB	chr4:76861676-76862305	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr4:76862180-76862330	AoAF	blood vessel:	n/a	n/a
21	POLR2A	chr4:76861811-76862373	GM12878	blood:	n/a	n/a
22	MXI1	chr4:76860858-76862599	IMR90	lung:	n/a	n/a
23	MAX	chr4:76860853-76862432	HepG2	liver:	n/a	n/a
24	MYC	chr4:76860970-76862320	K562	blood:	n/a	n/a
25	MAX	chr4:76860862-76862474	MCF-7	breast:	n/a	n/a
26	POLR2A	chr4:76861713-76862439	A549	lung:	n/a	n/a
27	POLR2A	chr4:76860996-76862279	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr4:76862220-76862370	Caco-2	colon:	n/a	n/a
29	CTCF	chr4:76862160-76862310	BE2_C	brain:	n/a	n/a
30	CTCF	chr4:76862198-76862357	LNCaP	prostate:	n/a	n/a
31	CTCF	chr4:76862140-76862290	HFF-Myc	foreskin:	n/a	n/a
32	CTCF	chr4:76862201-76862324	MCF-7	breast:	n/a	n/a
33	CTCF	chr4:76862240-76862390	AG09309	skin:	n/a	n/a
34	CTCF	chr4:76862140-76862290	NHDF-neo	bronchial:	n/a	n/a
35	HDAC2	chr4:76861805-76862486	K562	blood:	n/a	n/a
36	POLR2A	chr4:76860943-76862413	GM19193	blood:	n/a	n/a
37	CTCF	chr4:76862160-76862310	AoAF	blood vessel:	n/a	n/a
38	TAF1	chr4:76861516-76862389	HepG2	liver:	n/a	n/a
39	CTCF	chr4:76862046-76862597	SK-N-SH	brain:	n/a	n/a
40	CTCF	chr4:76862007-76862364	K562	blood:	n/a	n/a
41	MAX	chr4:76860764-76862553	HCT-116	colon:	n/a	n/a
42	CTCF	chr4:76862200-76862350	HFF-Myc	foreskin:	n/a	n/a
43	POLR2A	chr4:76861894-76862284	HepG2	liver:	n/a	n/a
44	POLR2A	chr4:76861823-76862310	A549	lung:	n/a	n/a
45	RUNX3	chr4:76862142-76862440	GM12878	blood:	n/a	n/a
46	CTCF	chr4:76862220-76862370	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr4:76862180-76862330	HBMEC	blood vessel:	n/a	n/a
48	YY1	chr4:76861654-76862411	HepG2	liver:	n/a	n/a
49	POLR2A	chr4:76860900-76862382	GM18951	blood:	n/a	n/a
50	MAFK	chr4:76862208-76862316	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:76862254-76862304	Caco-2	colon:	n/a
2	chr4:76862254-76862304	GM06990	blood:	n/a
3	chr4:76862254-76862304	HCF	heart:	n/a
4	chr4:76862254-76862304	HAEpiC	amniotic membrane:	n/a
5	chr4:76862254-76862304	AG09309	skin:	n/a
6	chr4:76862254-76862304	NH-A	brain:	n/a
7	chr4:76862254-76862304	AoSMC	blood vessel:	n/a
8	chr4:76862254-76862304	HIPEpiC	eye:	n/a
9	chr4:76862254-76862304	HCM	heart:	n/a
10	chr4:76862254-76862304	PANC-1	pancreas:	n/a
11	chr4:76862254-76862304	HL-60	blood:	n/a
12	chr4:76862254-76862304	HCPEpiC	choroid plexus:	n/a
13	chr4:76862254-76862304	T-47D	breast:	n/a
14	chr4:76862254-76862304	AG09319	gingival:	n/a
15	chr4:76862254-76862304	PrEC	prostate:	n/a
16	chr4:76862254-76862304	NB4	blood:	n/a
17	chr4:76862254-76862304	BE2_C	brain:	n/a
18	chr4:76862254-76862304	HCT-116	colon:	n/a
19	chr4:76862254-76862304	GM12892	blood:	n/a
20	chr4:76862254-76862304	SK-N-SH_RA	brain:	n/a
21	chr4:76862254-76862304	BJ	skin:	n/a
22	chr4:76862254-76862304	Hela-S3	cervix:	n/a
23	chr4:76862254-76862304	Jurkat	blood:	n/a
24	chr4:76862254-76862304	HRE	kidney:	n/a
25	chr4:76862254-76862304	CMK	blood:	n/a
26	chr4:76862254-76862304	NHDF-neo	bronchial:	n/a
27	chr4:76862254-76862304	ovcar-3	ovarian:	n/a
28	chr4:76862254-76862304	U87	brain:	n/a
29	chr4:76862254-76862304	HUVEC	blood vessel:	n/a
30	chr4:76862254-76862304	H1-hESC	embryonic stem cell:	embryo
31	chr4:76862254-76862304	ECC-1	luminal epithelium:	n/a
32	chr4:76862254-76862304	GM12878	blood:	n/a
33	chr4:76862254-76862304	AG04450	lung:	fetal
34	chr4:76862254-76862304	LNCaP	prostate:	n/a
35	chr4:76862254-76862304	GM19239	blood:	n/a
36	chr4:76862254-76862304	HPAEpiC	pulmonary alveolar:	n/a
37	chr4:76862254-76862304	NHBE	bronchial:	n/a
38	chr4:76862254-76862304	HepG2	liver:	n/a
39	chr4:76862254-76862304	SAEC	small airway:	n/a
40	chr4:76862254-76862304	MCF-7	breast:	n/a
41	chr4:76862254-76862304	SK-N-MC	brain:	n/a
42	chr4:76862254-76862304	AG04449	skin:	fetal
43	chr4:76862254-76862304	HRPEpiC	eye:	n/a
44	chr4:76862254-76862304	K562	blood:	n/a
45	chr4:76862254-76862304	AG10803	skin:	n/a
46	chr4:76862254-76862304	IMR90	lung:	fetal
47	chr4:76862254-76862304	A549	lung:	n/a
48	chr4:76862254-76862304	ProgFib	skin:	n/a
49	chr4:76862254-76862304	MCF10A-Er-Src	breast:	n/a
50	chr4:76862254-76862304	HEK293	kidney:	embryo

(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	chr4:76861526..76863582-chr4:76870984..76872556,2	K562	blood:
3	chr4:76857067..76859381-chr4:76860422..76862398,2	K562	blood:
4	chr4:76861625..76863720-chr4:76909476..76912300,3	MCF-7	breast:
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
ENSG00000268788	Chromatin interaction
ENSG00000138757	Chromatin interaction
ENSG00000138744	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10008757	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11097189	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11732759	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11931349	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11947509	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13111710	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13125558	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13132564	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13138223	0.90[ASN][1000 genomes]
rs2242471	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2242473	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2242474	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2273	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2292533	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4282209	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4337760	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4859413	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4859581	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4859582	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6532078	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6826085	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7436021	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7679177	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9307050	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9992952	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9995007	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3396277	chr4:76861228-76865426	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs13126007	CXCL10	Cis_1M	lymphoblastoid	RTeQTL
rs13126007	NAAA	cis	Artery Tibial	GTEx
rs13126007	NAAA	cis	brain	BrainEAC
rs13126007	NAAA	cis	Muscle Skeletal	GTEx
rs13126007	NAAA	cis	Adipose Subcutaneous	GTEx
rs13126007	NAAA	cis	temporal cortex	BrainEAC
rs13126007	NAAA	cis	Heart Left Ventricle	GTEx
rs13126007	ASAHL	cis	multi-tissue	Pritchard
rs13126007	NAAA	cis	Artery Aorta	GTEx
rs13126007	NAAA	cis	frontal cortex	BrainEAC
rs13126007	NAAA	cis	lung	GTEx
rs13126007	NAAA	cis	Esophagus Muscularis	GTEx
rs13126007	ART3	cis	Nerve Tibial	GTEx
rs13126007	NAAA	cis	Nerve Tibial	GTEx
rs13126007	NAAA	cis	Skin Sun Exposed Lower leg	GTEx
rs13126007	NAAA	cis	Whole Blood	GTEx
rs13126007	NAAA	cis	Esophagus Mucosa	GTEx
rs13126007	ASAHL	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76860400-76862600	Active TSS	A549	lung
2	chr4:76860600-76862400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:76860600-76862600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr4:76860600-76862600	Active TSS	Colonic Mucosa	Colon
5	chr4:76860600-76862600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr4:76860600-76862600	Active TSS	Rectal Smooth Muscle	rectum
7	chr4:76860800-76862400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:76860800-76862400	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr4:76860800-76862400	Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr4:76860800-76862400	Active TSS	Brain Angular Gyrus	brain
11	chr4:76860800-76862400	Active TSS	Esophagus	oesophagus
12	chr4:76860800-76862400	Active TSS	Fetal Brain Female	brain
13	chr4:76860800-76862400	Active TSS	Ovary	ovary
14	chr4:76860800-76862400	Active TSS	Right Ventricle	heart
15	chr4:76860800-76862400	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr4:76860800-76862400	Active TSS	Hela-S3	cervix
17	chr4:76860800-76862600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr4:76860800-76862600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:76860800-76862600	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr4:76860800-76862600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr4:76860800-76862600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr4:76860800-76862600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:76860800-76862600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:76860800-76862600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:76860800-76862600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr4:76860800-76862600	Active TSS	Primary T cells from cord blood	blood
27	chr4:76860800-76862600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:76860800-76862600	Active TSS	Brain Anterior Caudate	brain
29	chr4:76860800-76862600	Active TSS	Brain Cingulate Gyrus	brain
30	chr4:76860800-76862600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr4:76860800-76862600	Active TSS	Brain Substantia Nigra	brain
32	chr4:76860800-76862600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr4:76860800-76862600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr4:76860800-76862600	Active TSS	Psoas Muscle	Psoas
35	chr4:76860800-76862600	Active TSS	K562	blood
36	chr4:76860800-76862600	Active TSS	NHLF	lung
37	chr4:76861000-76862400	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr4:76861000-76862400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:76861000-76862400	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr4:76861000-76862400	Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr4:76861000-76862400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr4:76861000-76862400	Active TSS	Aorta	Aorta
43	chr4:76861000-76862400	Active TSS	Brain Hippocampus Middle	brain
44	chr4:76861000-76862400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:76861000-76862400	Active TSS	Colon Smooth Muscle	Colon
46	chr4:76861000-76862400	Active TSS	Duodenum Mucosa	Duodenum
47	chr4:76861000-76862400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr4:76861000-76862400	Active TSS	Placenta	Placenta
49	chr4:76861000-76862400	Active TSS	Lung	lung
50	chr4:76861000-76862400	Active TSS	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links