Variant report

Variant	rs77541477
Chromosome Location	chr4:7865726-7865727
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:88)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:88 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:7865621-7865753	HepG2	liver:	n/a	n/a
2	SIX5	chr4:7865588-7865913	K562	blood:	n/a	n/a
3	BRCA1	chr4:7865543-7865905	HepG2	liver:	n/a	n/a
4	CTCF	chr4:7865717-7865768	GM10248	blood:	n/a	n/a
5	IRF4	chr4:7865565-7866053	GM12878	blood:	n/a	n/a
6	POLR2A	chr4:7865647-7865906	HepG2	liver:	n/a	n/a
7	REST	chr4:7865513-7866033	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZBTB33	chr4:7865567-7866006	GM12878	blood:	n/a	n/a
9	SMC3	chr4:7865692-7865733	Hela-S3	cervix:	n/a	n/a
10	PBX3	chr4:7865625-7865893	GM12878	blood:	n/a	n/a
11	USF1	chr4:7865624-7865891	HepG2	liver:	n/a	n/a
12	BCL11A	chr4:7865563-7865923	GM12878	blood:	n/a	n/a
13	REST	chr4:7865582-7865969	H1-hESC	embryonic stem cell:	n/a	n/a
14	TCF3	chr4:7865596-7865961	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:7865623-7865899	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr4:7865595-7865753	A549	lung:	n/a	n/a
17	PAX5	chr4:7865547-7865980	GM12878	blood:	n/a	n/a
18	TCF12	chr4:7865605-7865917	HepG2	liver:	n/a	n/a
19	SIX5	chr4:7865597-7865971	K562	blood:	n/a	n/a
20	ZBTB33	chr4:7865628-7865899	HepG2	liver:	n/a	n/a
21	POLR2A	chr4:7865580-7865753	HUVEC	blood vessel:	n/a	n/a
22	REST	chr4:7865592-7865924	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr4:7865719-7865727	Gliobla	brain:	n/a	n/a
24	BATF	chr4:7865603-7865907	GM12878	blood:	n/a	n/a
25	SP1	chr4:7865557-7865963	HepG2	liver:	n/a	n/a
26	SP1	chr4:7865586-7865936	GM12878	blood:	n/a	n/a
27	POU2F2	chr4:7865577-7866083	GM12878	blood:	n/a	n/a
28	POLR2A	chr4:7865614-7865933	H1-hESC	embryonic stem cell:	n/a	n/a
29	REST	chr4:7865604-7866020	SK-N-SH	brain:	n/a	n/a
30	GTF2F1	chr4:7865709-7865731	H1-hESC	embryonic stem cell:	n/a	n/a
31	WRNIP1	chr4:7865674-7865876	GM12878	blood:	n/a	n/a
32	SPI1	chr4:7865526-7865917	GM12878	blood:	n/a	n/a
33	CTCF	chr4:7865600-7865750	HFF-Myc	foreskin:	n/a	n/a
34	GABPA	chr4:7865628-7865891	Hela-S3	cervix:	n/a	n/a
35	USF2	chr4:7865539-7865901	HepG2	liver:	n/a	n/a
36	MAZ	chr4:7865719-7865876	Hela-S3	cervix:	n/a	n/a
37	REST	chr4:7865637-7865975	K562	blood:	n/a	n/a
38	POLR2A	chr4:7865573-7866155	PANC-1	pancreas:	n/a	n/a
39	REST	chr4:7865258-7866388	H1-neurons	neurons:	n/a	chr4:7866052-7866065
40	POU2F2	chr4:7865625-7865923	GM12878	blood:	n/a	n/a
41	EP300	chr4:7865563-7866009	GM12878	blood:	n/a	n/a
42	HEY1	chr4:7865585-7865927	HepG2	liver:	n/a	n/a
43	POLR2A	chr4:7865546-7865975	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr4:7865484-7866047	SK-N-SH	brain:	n/a	n/a
45	IKZF1	chr4:7865534-7866058	GM12878	blood:	n/a	n/a
46	GABPA	chr4:7865598-7865928	Hela-S3	cervix:	n/a	n/a
47	BCL11A	chr4:7865557-7865916	GM12878	blood:	n/a	n/a
48	RFX5	chr4:7865547-7865911	HepG2	liver:	n/a	n/a
49	TBL1XR1	chr4:7865699-7865876	K562	blood:	n/a	n/a
50	FOXP2	chr4:7865622-7865793	PFSK-1	brain:	n/a	n/a

No data

Variant related genes	Relation type
AFAP1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv3330221	chr4:7863700-7868089	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
7	esv3343056	chr4:7865226-7866282	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
8	esv8707	chr4:7865702-7865894	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7848000-7872200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7852600-7873600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:7856200-7872800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:7856400-7865800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:7857600-7873000	Weak transcription	Colonic Mucosa	Colon
6	chr4:7857800-7896400	Weak transcription	Spleen	Spleen
7	chr4:7859600-7869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:7859600-7869400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:7859800-7872600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:7860200-7867600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:7860400-7870200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr4:7860800-7869000	Weak transcription	Aorta	Aorta
13	chr4:7860800-7872800	Weak transcription	Right Ventricle	heart
14	chr4:7861200-7872800	Weak transcription	Psoas Muscle	Psoas
15	chr4:7862600-7870000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:7862800-7868600	Weak transcription	Left Ventricle	heart
17	chr4:7863200-7867400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:7863400-7865800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:7863400-7867200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:7863600-7866200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:7863600-7868400	Weak transcription	Placenta	Placenta
22	chr4:7863600-7869000	Weak transcription	Adipose Nuclei	Adipose
23	chr4:7863600-7871000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:7863800-7865800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:7863800-7866000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:7863800-7869000	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:7863800-7869000	Weak transcription	Fetal Brain Female	brain
28	chr4:7863800-7869000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:7863800-7872800	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:7864000-7866600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:7864200-7866000	Genic enhancers	NH-A	brain
32	chr4:7864800-7867200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:7864800-7873000	Weak transcription	Primary T cells from cord blood	blood
34	chr4:7865200-7872200	Weak transcription	Right Atrium	heart
35	chr4:7865400-7866000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:7865400-7867200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:7865400-7868400	Weak transcription	Brain Germinal Matrix	brain
38	chr4:7865400-7869000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:7865400-7872600	Weak transcription	Fetal Heart	heart
40	chr4:7865400-7875800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:7865600-7865800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:7865600-7865800	ZNF genes & repeats	Liver	Liver
43	chr4:7865600-7865800	Enhancers	Brain Anterior Caudate	brain
44	chr4:7865600-7865800	Genic enhancers	Fetal Stomach	stomach
45	chr4:7865600-7865800	Genic enhancers	Gastric	stomach
46	chr4:7865600-7865800	Genic enhancers	Pancreas	Pancrea
47	chr4:7865600-7865800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
48	chr4:7865600-7865800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
49	chr4:7865600-7866000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
50	chr4:7865600-7866000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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