Variant report

Variant	rs7663257
Chromosome Location	chr4:148701360-148701361
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	MXI1	chr4:148701183-148701966	GM12878	blood:	n/a	n/a
2	REST	chr4:148701220-148701460	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr4:148701292-148701918	GM12878	blood:	n/a	n/a
4	STAT5A	chr4:148701177-148702048	GM12878	blood:	n/a	n/a
5	IRF4	chr4:148701157-148702031	GM12878	blood:	n/a	n/a
6	BCLAF1	chr4:148701287-148702118	GM12878	blood:	n/a	chr4:148701352-148701361 chr4:148701763-148701772
7	RUNX3	chr4:148701157-148702067	GM12878	blood:	n/a	n/a
8	NFIC	chr4:148699893-148702117	GM12878	blood:	n/a	n/a
9	SMC3	chr4:148701255-148702071	GM12878	blood:	n/a	n/a
10	POU2F2	chr4:148701284-148701969	GM12878	blood:	n/a	chr4:148701659-148701671 chr4:148701777-148701789
11	POLR2A	chr4:148701259-148701669	GM12892	blood:	n/a	n/a
12	POLR2A	chr4:148701317-148702053	GM12878	blood:	n/a	n/a
13	RELA	chr4:148701213-148702150	GM12891	blood:	n/a	n/a
14	POU2F2	chr4:148701277-148702020	GM12891	blood:	n/a	chr4:148701659-148701671 chr4:148701777-148701789
15	POLR2A	chr4:148701147-148702254	GM12878	blood:	n/a	n/a
16	POLR2A	chr4:148701228-148702123	GM19193	blood:	n/a	n/a
17	PAX5	chr4:148701282-148701616	GM12878	blood:	n/a	chr4:148701352-148701361
18	RELA	chr4:148701051-148702031	GM10847	blood:	n/a	n/a
19	FOXM1	chr4:148699798-148702028	GM12878	blood:	n/a	n/a
20	BCL3	chr4:148701200-148701596	GM12878	blood:	n/a	chr4:148701352-148701361
21	SPI1	chr4:148700510-148702078	HL-60	blood:	n/a	chr4:148700808-148700821 chr4:148701801-148701814 chr4:148701352-148701361 chr4:148701800-148701813 chr4:148701355-148701368 chr4:148701356-148701365 chr4:148700810-148700819 chr4:148700807-148700820 chr4:148700807-148700820 chr4:148701803-148701812 chr4:148701354-148701367
22	SPI1	chr4:148701178-148701584	GM12878	blood:	n/a	chr4:148701352-148701361 chr4:148701355-148701368 chr4:148701356-148701365 chr4:148701354-148701367
23	CEBPB	chr4:148700962-148702076	GM12878	blood:	n/a	n/a
24	RUNX3	chr4:148701008-148702194	GM12878	blood:	n/a	n/a
25	POLR2A	chr4:148701248-148702134	GM12892	blood:	n/a	n/a
26	YY1	chr4:148701282-148701628	GM12891	blood:	n/a	n/a
27	POU2F2	chr4:148701293-148702109	GM12891	blood:	n/a	chr4:148701659-148701671 chr4:148701777-148701789
28	BCL11A	chr4:148701247-148701622	GM12878	blood:	n/a	chr4:148701352-148701361
29	SPI1	chr4:148701252-148701460	K562	blood:	n/a	chr4:148701352-148701361 chr4:148701355-148701368 chr4:148701356-148701365 chr4:148701354-148701367
30	ZNF143	chr4:148701284-148702036	GM12878	blood:	n/a	n/a
31	CHD2	chr4:148701322-148701988	GM12878	blood:	n/a	n/a
32	POU2F2	chr4:148701266-148702083	GM12878	blood:	n/a	chr4:148701659-148701671 chr4:148701777-148701789
33	POLR2A	chr4:148701316-148701591	GM12891	blood:	n/a	n/a
34	BHLHE40	chr4:148699940-148702041	GM12878	blood:	n/a	n/a
35	STAT1	chr4:148701342-148701596	GM12878	blood:	n/a	n/a
36	BATF	chr4:148701261-148701642	GM12878	blood:	n/a	n/a
37	BHLHE40	chr4:148701251-148701550	K562	blood:	n/a	n/a
38	CTCF	chr4:148701342-148701540	GM12878	blood:	n/a	n/a
39	RELA	chr4:148699988-148702147	GM19099	blood:	n/a	n/a
40	SPI1	chr4:148700373-148702097	GM12878	blood:	n/a	chr4:148700808-148700821 chr4:148701801-148701814 chr4:148701352-148701361 chr4:148701800-148701813 chr4:148701355-148701368 chr4:148701356-148701365 chr4:148700810-148700819 chr4:148700807-148700820 chr4:148700807-148700820 chr4:148701803-148701812 chr4:148701354-148701367
41	SRF	chr4:148701269-148701432	GM12878	blood:	n/a	n/a
42	ATF2	chr4:148699787-148702056	GM12878	blood:	n/a	n/a
43	BCLAF1	chr4:148701095-148702055	GM12878	blood:	n/a	chr4:148701352-148701361 chr4:148701763-148701772
44	FAM48A	chr4:148701348-148701445	GM12878	blood:	n/a	n/a
45	RELA	chr4:148701306-148702045	GM12892	blood:	n/a	n/a
46	TBP	chr4:148700922-148702005	GM12878	blood:	n/a	n/a
47	POU2F2	chr4:148701295-148701623	GM12878	blood:	n/a	n/a
48	FOXM1	chr4:148701156-148702044	GM12878	blood:	n/a	n/a
49	EBF1	chr4:148701177-148702197	GM12878	blood:	n/a	n/a
50	SP1	chr4:148701245-148701676	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148698864..148701739-chr4:148701803..148703521,2	MCF-7	breast:
2	chr4:148692827..148694690-chr4:148699168..148701568,2	K562	blood:

Variant related genes	Relation type
MIR4799	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10012122	1.00[EUR][1000 genomes]
rs10213616	1.00[EUR][1000 genomes]
rs11934646	1.00[AMR][1000 genomes]
rs1436492	1.00[EUR][1000 genomes]
rs17023736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023950	1.00[EUR][1000 genomes]
rs17023959	1.00[EUR][1000 genomes]
rs17024108	1.00[EUR][1000 genomes]
rs17024163	1.00[EUR][1000 genomes]
rs2036499	1.00[AMR][1000 genomes]
rs2036502	1.00[AMR][1000 genomes]
rs2718451	1.00[AMR][1000 genomes]
rs41435251	1.00[EUR][1000 genomes]
rs55689306	1.00[EUR][1000 genomes]
rs56742479	1.00[EUR][1000 genomes]
rs59129054	1.00[EUR][1000 genomes]
rs59222333	1.00[EUR][1000 genomes]
rs59845678	1.00[EUR][1000 genomes]
rs6535551	1.00[AMR][1000 genomes]
rs6813344	1.00[EUR][1000 genomes]
rs6815620	1.00[EUR][1000 genomes]
rs6848211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6854158	1.00[AMR][1000 genomes]
rs72957764	1.00[EUR][1000 genomes]
rs72957767	1.00[EUR][1000 genomes]
rs72957792	1.00[EUR][1000 genomes]
rs731989	1.00[EUR][1000 genomes]
rs7661589	1.00[EUR][1000 genomes]
rs7699281	1.00[AMR][1000 genomes];1.00[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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148694800-148708400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:148695200-148701400	Weak transcription	Small Intestine	intestine
3	chr4:148695400-148707400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:148695600-148706400	Weak transcription	Fetal Stomach	stomach
5	chr4:148697000-148701600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:148697000-148706400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:148697600-148702000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr4:148698000-148701400	Weak transcription	Lung	lung
9	chr4:148698200-148701400	Weak transcription	Gastric	stomach
10	chr4:148698200-148701400	Weak transcription	Spleen	Spleen
11	chr4:148698200-148701800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:148698200-148708800	Weak transcription	Pancreas	Pancrea
13	chr4:148698600-148702200	Enhancers	Right Atrium	heart
14	chr4:148698800-148701400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:148698800-148703400	Weak transcription	Stomach Mucosa	stomach
16	chr4:148698800-148703600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:148698800-148708400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:148699000-148703000	Weak transcription	HSMM	muscle
19	chr4:148699000-148703200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:148699000-148703200	Weak transcription	NHDF-Ad	bronchial
21	chr4:148699200-148701400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:148699200-148702600	Flanking Active TSS	GM12878-XiMat	blood
23	chr4:148699200-148703200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:148699200-148703200	Weak transcription	NH-A	brain
25	chr4:148699200-148703200	Weak transcription	Osteobl	bone
26	chr4:148699200-148703400	Weak transcription	Fetal Intestine Small	intestine
27	chr4:148699400-148701400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:148699400-148703200	Weak transcription	Hela-S3	cervix
29	chr4:148699400-148703200	Weak transcription	HSMMtube	muscle
30	chr4:148699400-148708200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr4:148699600-148701400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:148699600-148701400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr4:148699600-148701400	Weak transcription	Aorta	Aorta
34	chr4:148699600-148701800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:148699600-148701800	Weak transcription	HMEC	breast
36	chr4:148699600-148703200	Weak transcription	NHLF	lung
37	chr4:148699800-148703000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr4:148699800-148706600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:148700000-148703200	Weak transcription	Fetal Heart	heart
40	chr4:148700200-148701400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr4:148700200-148701400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr4:148700200-148701600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:148700200-148702000	Enhancers	Fetal Muscle Leg	muscle
44	chr4:148700200-148702000	Enhancers	Psoas Muscle	Psoas
45	chr4:148700400-148701400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:148700400-148701400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:148700400-148701400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:148700400-148701400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:148700400-148702200	Enhancers	Primary hematopoietic stem cells	blood
50	chr4:148700400-148702200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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