Variant report

Variant	rs7655226
Chromosome Location	chr4:7941901-7941902
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr4:7941282-7942050	SK-N-SH	brain:	n/a	n/a
2	REST	chr4:7941267-7941924	H1-neurons	neurons:	n/a	n/a
3	CHD1	chr4:7938516-7942221	IMR90	lung:	n/a	n/a
4	POLR2A	chr4:7939632-7941984	HUVEC	blood vessel:	n/a	n/a
5	KAP1	chr4:7941770-7941987	HEK293	kidney:	n/a	n/a
6	POLR2A	chr4:7939500-7942061	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr4:7941359-7941941	HCT-116	colon:	n/a	n/a
8	POLR2A	chr4:7941125-7942031	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr4:7941190-7941922	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr4:7940773-7941987	MCF-7	breast:	n/a	n/a
11	CHD2	chr4:7941395-7941935	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr4:7941216-7942047	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr4:7940441-7942003	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr4:7939516-7942080	HUVEC	blood vessel:	n/a	n/a
15	SP4	chr4:7941573-7941918	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF143	chr4:7941766-7941936	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr4:7941205-7942079	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr4:7941071-7941984	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr4:7941124-7941945	ProgFib	skin:	n/a	n/a
20	RCOR1	chr4:7941380-7941971	Hela-S3	cervix:	n/a	n/a
21	MAZ	chr4:7939417-7942102	IMR90	lung:	n/a	chr4:7940793-7940802
22	HEY1	chr4:7941373-7941980	HepG2	liver:	n/a	n/a
23	MAZ	chr4:7941056-7941999	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr4:7941685-7941941	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr4:7941158-7942001	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr4:7941230-7941973	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr4:7940248-7942132	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr4:7941184-7942061	HepG2	liver:	n/a	n/a
29	POLR2A	chr4:7940383-7942109	H1-neurons	neurons:	n/a	n/a
30	ZBTB7A	chr4:7940291-7942133	ECC-1	luminal epithelium:	n/a	n/a
31	TAF1	chr4:7941220-7941976	H1-neurons	neurons:	n/a	n/a
32	ZBTB7A	chr4:7941635-7942053	ECC-1	luminal epithelium:	n/a	n/a
33	MXI1	chr4:7939421-7942036	IMR90	lung:	n/a	n/a
34	POLR2A	chr4:7941170-7941927	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr4:7941128-7942066	MCF-7	breast:	n/a	n/a
36	POLR2A	chr4:7941247-7942085	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr4:7941276-7941968	HCT-116	colon:	n/a	n/a
38	POLR2A	chr4:7939541-7942011	IMR90	lung:	n/a	n/a
39	TCF12	chr4:7941257-7942116	ECC-1	luminal epithelium:	n/a	n/a
40	JUN	chr4:7941804-7941987	H1-hESC	embryonic stem cell:	n/a	n/a
41	REST	chr4:7940533-7942237	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr4:7941176-7942048	MCF-7	breast:	n/a	n/a
43	POLR2A	chr4:7941289-7942054	SK-N-SH	brain:	n/a	n/a
44	MXI1	chr4:7939452-7942147	SK-N-SH	brain:	n/a	n/a
45	REST	chr4:7941761-7941928	A549	lung:	n/a	n/a
46	YY1	chr4:7941357-7941915	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:7941894-7941944	SKMC	muscle:	n/a
2	chr4:7941852-7941902	HRPEpiC	eye:	n/a
3	chr4:7941894-7941944	HL-60	blood:	n/a
4	chr4:7941852-7941902	HepG2	liver:	n/a
5	chr4:7941852-7941902	ovcar-3	ovarian:	n/a
6	chr4:7941894-7941944	HRPEpiC	eye:	n/a
7	chr4:7941852-7941902	GM19239	blood:	n/a
8	chr4:7941894-7941944	PFSK-1	brain:	n/a
9	chr4:7941852-7941902	HCM	heart:	n/a
10	chr4:7941894-7941944	AG04450	lung:	fetal
11	chr4:7941894-7941944	SK-N-SH	brain:	n/a
12	chr4:7941852-7941902	HEK293	kidney:	embryo
13	chr4:7941894-7941944	BJ	skin:	n/a
14	chr4:7941852-7941902	Caco-2	colon:	n/a
15	chr4:7941894-7941944	HEK293	kidney:	embryo
16	chr4:7941894-7941944	SK-N-SH_RA	brain:	n/a
17	chr4:7941852-7941902	SAEC	small airway:	n/a
18	chr4:7941894-7941944	BE2_C	brain:	n/a
19	chr4:7941894-7941944	NHBE	bronchial:	n/a
20	chr4:7941852-7941902	HL-60	blood:	n/a
21	chr4:7941894-7941944	ECC-1	luminal epithelium:	n/a
22	chr4:7941894-7941944	IMR90	lung:	fetal
23	chr4:7941852-7941902	K562	blood:	n/a
24	chr4:7941852-7941902	HCF	heart:	n/a
25	chr4:7941852-7941902	HEEpiC	esophagus:	n/a
26	chr4:7941894-7941944	AG10803	skin:	n/a
27	chr4:7941852-7941902	GM06990	blood:	n/a
28	chr4:7941894-7941944	NT2-D1	testis:	n/a
29	chr4:7941852-7941902	BJ	skin:	n/a
30	chr4:7941852-7941902	NB4	blood:	n/a
31	chr4:7941852-7941902	HRCEpiC	kidney:	n/a
32	chr4:7941894-7941944	HRCEpiC	kidney:	n/a
33	chr4:7941852-7941902	HMEC	breast:	n/a
34	chr4:7941894-7941944	HEEpiC	esophagus:	n/a
35	chr4:7941894-7941944	AG09309	skin:	n/a
36	chr4:7941852-7941902	GM12892	blood:	n/a
37	chr4:7941894-7941944	SK-N-MC	brain:	n/a
38	chr4:7941894-7941944	AG04449	skin:	fetal
39	chr4:7941894-7941944	A549	lung:	n/a
40	chr4:7941894-7941944	T-47D	breast:	n/a
41	chr4:7941894-7941944	U87	brain:	n/a
42	chr4:7941852-7941902	SK-N-MC	brain:	n/a
43	chr4:7941852-7941902	SK-N-SH	brain:	n/a
44	chr4:7941894-7941944	GM06990	blood:	n/a
45	chr4:7941852-7941902	Jurkat	blood:	n/a
46	chr4:7941894-7941944	H1-hESC	embryonic stem cell:	embryo
47	chr4:7941852-7941902	ProgFib	skin:	n/a
48	chr4:7941894-7941944	HNPCEpiC	eye:	n/a
49	chr4:7941894-7941944	Jurkat	blood:	n/a
50	chr4:7941852-7941902	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
AFAP1	TF binding region
AFAP1	CpG island

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1320069	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1814873	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1814874	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2385911	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2385913	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2386056	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4235268	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4235269	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4345163	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4385040	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4696825	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4696827	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4696834	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5012708	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5012709	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6447871	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6816560	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6819776	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7667982	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7681378	0.88[ASN][1000 genomes]
rs7683285	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7685634	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3370778	chr4:7940277-7942825	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 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	chr4:7939200-7942000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr4:7939400-7942000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr4:7939600-7942000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:7939600-7942000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:7939600-7942000	Active TSS	Aorta	Aorta
6	chr4:7939800-7942000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr4:7939800-7942000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr4:7940000-7942000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr4:7940000-7942000	Active TSS	Colon Smooth Muscle	Colon
10	chr4:7940000-7942000	Active TSS	Gastric	stomach
11	chr4:7940000-7942000	Active TSS	Ovary	ovary
12	chr4:7940000-7942000	Active TSS	Right Atrium	heart
13	chr4:7940200-7942000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:7940200-7942000	Active TSS	Fetal Intestine Large	intestine
15	chr4:7940200-7942200	Active TSS	Fetal Lung	lung
16	chr4:7940400-7942000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:7940400-7942000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:7940400-7942000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr4:7940400-7942000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr4:7940400-7942000	Active TSS	Lung	lung
21	chr4:7940400-7942200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:7940400-7942200	Active TSS	Brain Angular Gyrus	brain
23	chr4:7940600-7942000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:7940600-7942000	Active TSS	NHEK	skin
25	chr4:7940800-7942000	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr4:7940800-7942000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr4:7941000-7942000	Active TSS	H1 Cell Line	embryonic stem cell
28	chr4:7941000-7942000	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr4:7941000-7942000	ZNF genes & repeats	Spleen	Spleen
30	chr4:7941000-7942200	Active TSS	Brain Cingulate Gyrus	brain
31	chr4:7941200-7942000	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr4:7941200-7942000	Bivalent/Poised TSS	Thymus	Thymus
33	chr4:7941200-7942200	Active TSS	Fetal Brain Female	brain
34	chr4:7941400-7942000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:7941400-7942000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:7941400-7942000	Active TSS	GM12878-XiMat	blood
37	chr4:7941400-7942200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:7941600-7942000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr4:7941600-7942000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:7941600-7942000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:7941600-7942000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr4:7941600-7942000	Flanking Active TSS	Fetal Muscle Trunk	muscle
43	chr4:7941600-7942000	Flanking Active TSS	HMEC	breast
44	chr4:7941600-7942600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:7941600-7942800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr4:7941600-7943200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:7941600-7944000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:7941600-7944400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:7941600-7951200	Weak transcription	Small Intestine	intestine
50	chr4:7941800-7942000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell

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