Variant report

Variant	rs115100853
Chromosome Location	chr4:671522-671523
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr4:671442-672059	HepG2	liver:	n/a	n/a
2	JUND	chr4:671465-671725	HepG2	liver:	n/a	chr4:671632-671642 chr4:671631-671642 chr4:671632-671642
3	POLR2A	chr4:667464-672151	GM12878	blood:	n/a	n/a
4	FOS	chr4:671505-671825	MCF10A-Er-Src	breast:	n/a	chr4:671632-671642 chr4:671632-671642
5	POLR2A	chr4:667656-672822	GM19099	blood:	n/a	n/a
6	POLR2A	chr4:667899-673815	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr4:670412-673685	HepG2	liver:	n/a	n/a
8	EGR1	chr4:671434-672410	HCT-116	colon:	n/a	chr4:672267-672280
9	POLR2A	chr4:671038-672322	HepG2	liver:	n/a	n/a
10	POLR2A	chr4:667908-672199	GM12878	blood:	n/a	n/a
11	POLR2A	chr4:671080-671747	U87	brain:	n/a	n/a
12	POLR2A	chr4:667840-672164	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr4:670859-672125	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr4:670699-671598	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr4:670984-672143	HCT-116	colon:	n/a	n/a
16	POLR2A	chr4:669705-672344	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr4:670373-673590	H1-hESC	embryonic stem cell:	n/a	n/a
18	FOSL2	chr4:671361-672084	HepG2	liver:	n/a	chr4:671632-671642 chr4:671632-671642
19	POLR2A	chr4:670962-672143	HepG2	liver:	n/a	n/a
20	POLR2A	chr4:671395-672100	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:667550-672298	GM15510	blood:	n/a	n/a
22	POLR2A	chr4:671488-672317	ProgFib	skin:	n/a	n/a
23	FOS	chr4:671508-671979	MCF10A-Er-Src	breast:	n/a	chr4:671632-671642 chr4:671632-671642
24	POLR2A	chr4:666866-675998	K562	blood:	n/a	n/a
25	POLR2A	chr4:670955-671615	GM12891	blood:	n/a	n/a
26	FOS	chr4:671502-671949	MCF10A-Er-Src	breast:	n/a	chr4:671632-671642 chr4:671632-671642
27	POLR2A	chr4:667409-672803	GM18505	blood:	n/a	n/a
28	POLR2A	chr4:667311-672325	GM19193	blood:	n/a	n/a
29	POLR2A	chr4:667296-675255	MCF10A-Er-Src	breast:	n/a	n/a
30	EGR1	chr4:671517-672443	HCT-116	colon:	n/a	chr4:672267-672280
31	POLR2A	chr4:671338-672092	PANC-1	pancreas:	n/a	n/a
32	TCF12	chr4:671183-672006	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr4:669990-673196	K562	blood:	n/a	n/a
34	POLR2A	chr4:671497-672111	U87	brain:	n/a	n/a
35	POLR2A	chr4:671301-672442	HCT-116	colon:	n/a	n/a
36	POLR2A	chr4:671335-672143	NB4	blood:	n/a	n/a
37	POLR2A	chr4:667740-672261	GM12892	blood:	n/a	n/a
38	POLR2A	chr4:669910-672902	HepG2	liver:	n/a	n/a
39	POLR2A	chr4:671174-672111	U87	brain:	n/a	n/a
40	POLR2A	chr4:671014-674008	HepG2	liver:	n/a	n/a
41	POLR2A	chr4:667888-672448	GM12891	blood:	n/a	n/a
42	POLR2A	chr4:671372-672322	MCF-7	breast:	n/a	n/a
43	MTA3	chr4:671044-671524	GM12878	blood:	n/a	n/a
44	POLR2A	chr4:671223-672441	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr4:670676-675301	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr4:671467-672356	MCF-7	breast:	n/a	n/a
47	POLR2A	chr4:671119-671741	U87	brain:	n/a	n/a
48	POLR2A	chr4:671225-672237	MCF-7	breast:	n/a	n/a
49	POLR2A	chr4:667415-673809	Raji	blood:	n/a	n/a
50	POLR2A	chr4:671133-671598	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:671489-671539	T-47D	breast:	n/a
2	chr4:671489-671539	RPTEC	kidney:	n/a
3	chr4:671489-671539	U87	brain:	n/a
4	chr4:671489-671539	PFSK-1	brain:	n/a
5	chr4:671489-671539	Jurkat	blood:	n/a
6	chr4:671489-671539	HIPEpiC	eye:	n/a
7	chr4:671489-671539	HCT-116	colon:	n/a
8	chr4:671489-671539	HUVEC	blood vessel:	n/a
9	chr4:671489-671539	HAEpiC	amniotic membrane:	n/a
10	chr4:671489-671539	AoSMC	blood vessel:	n/a
11	chr4:671489-671539	K562	blood:	n/a
12	chr4:671489-671539	NHBE	bronchial:	n/a
13	chr4:671489-671539	SKMC	muscle:	n/a
14	chr4:671489-671539	ECC-1	luminal epithelium:	n/a
15	chr4:671489-671539	ovcar-3	ovarian:	n/a
16	chr4:671489-671539	BJ	skin:	n/a
17	chr4:671489-671539	SAEC	small airway:	n/a
18	chr4:671489-671539	ProgFib	skin:	n/a
19	chr4:671489-671539	HL-60	blood:	n/a
20	chr4:671489-671539	H1-hESC	embryonic stem cell:	embryo
21	chr4:671489-671539	MCF-7	breast:	n/a
22	chr4:671489-671539	GM12892	blood:	n/a
23	chr4:671489-671539	HRE	kidney:	n/a
24	chr4:671489-671539	PrEC	prostate:	n/a
25	chr4:671489-671539	GM12878	blood:	n/a
26	chr4:671489-671539	SK-N-MC	brain:	n/a
27	chr4:671489-671539	GM12891	blood:	n/a
28	chr4:671489-671539	Hela-S3	cervix:	n/a
29	chr4:671489-671539	NH-A	brain:	n/a
30	chr4:671489-671539	AG09319	gingival:	n/a
31	chr4:671489-671539	HRCEpiC	kidney:	n/a
32	chr4:671489-671539	GM06990	blood:	n/a
33	chr4:671489-671539	SK-N-SH_RA	brain:	n/a
34	chr4:671489-671539	AG09309	skin:	n/a
35	chr4:671489-671539	NT2-D1	testis:	n/a
36	chr4:671489-671539	NHDF-neo	bronchial:	n/a
37	chr4:671489-671539	AG10803	skin:	n/a
38	chr4:671489-671539	NB4	blood:	n/a
39	chr4:671489-671539	BE2_C	brain:	n/a
40	chr4:671489-671539	HCPEpiC	choroid plexus:	n/a
41	chr4:671489-671539	MCF10A-Er-Src	breast:	n/a
42	chr4:671489-671539	A549	lung:	n/a
43	chr4:671489-671539	HMEC	breast:	n/a
44	chr4:671489-671539	HRPEpiC	eye:	n/a
45	chr4:671489-671539	LNCaP	prostate:	n/a
46	chr4:671489-671539	HNPCEpiC	eye:	n/a
47	chr4:671489-671539	HPAEpiC	pulmonary alveolar:	n/a
48	chr4:671489-671539	SK-N-SH	brain:	n/a
49	chr4:671489-671539	HEEpiC	esophagus:	n/a
50	chr4:671489-671539	PANC-1	pancreas:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:669988..672792-chr4:681146..683044,2	K562	blood:
2	chr4:491399..494814-chr4:670516..673656,5	K562	blood:
3	chr4:671080..676330-chr4:771868..776883,7	K562	blood:
4	chr4:666292..671732-chr4:694079..701503,8	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE6B-2	chr4:668129-671710	NONHSAT094599

No data

Variant related genes	Relation type
ATP5I	TF binding region
MYL5	TF binding region
MYL5	CpG island
ATP5I	CpG island
ENSG00000182903	Chromatin interaction
ENSG00000174227	Chromatin interaction
ENSG00000249592	Chromatin interaction
ENSG00000169026	Chromatin interaction
ENSG00000185619	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription 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 miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
9	nsv878246	chr4:592507-696848	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
14	nsv593206	chr4:625962-735150	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv878248	chr4:645300-685993	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv878249	chr4:649639-691026	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
18	nsv829834	chr4:665477-775524	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
19	nsv10413	chr4:667204-684301	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	nsv593208	chr4:668000-682233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	nsv878250	chr4:668567-683842	Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv878251	chr4:669857-683842	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv878252	chr4:669857-685993	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	esv3389909	chr4:670502-673300	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:668800-674400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:669000-672200	Enhancers	Spleen	Spleen
3	chr4:669200-672000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:669200-672600	Enhancers	Esophagus	oesophagus
5	chr4:669200-672600	Enhancers	Fetal Intestine Large	intestine
6	chr4:669200-673000	Enhancers	Pancreas	Pancrea
7	chr4:669200-674200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:669200-674400	Weak transcription	Fetal Lung	lung
9	chr4:669400-672200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:669400-672800	Enhancers	Duodenum Mucosa	Duodenum
11	chr4:669400-674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:669400-674200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr4:669400-674200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:669400-674200	Weak transcription	NH-A	brain
15	chr4:669400-674400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:669400-674400	Weak transcription	Ovary	ovary
17	chr4:669400-674400	Weak transcription	Right Atrium	heart
18	chr4:669400-674600	Enhancers	Placenta	Placenta
19	chr4:669400-674600	Weak transcription	HUVEC	blood vessel
20	chr4:669600-671600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:669600-671800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:669600-673800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr4:669600-674000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:669600-674000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:669600-674000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:669600-674000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:669600-674000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr4:669600-674200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:669600-674200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr4:669600-674200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr4:669600-674200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:669600-674200	Weak transcription	Osteobl	bone
33	chr4:669600-674400	Weak transcription	Primary T cells from cord blood	blood
34	chr4:669600-674400	Weak transcription	NHLF	lung
35	chr4:669600-674600	Weak transcription	Left Ventricle	heart
36	chr4:669600-674600	Weak transcription	Small Intestine	intestine
37	chr4:669800-671600	Weak transcription	NHDF-Ad	bronchial
38	chr4:669800-672600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:669800-674000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:669800-674200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:669800-674200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:669800-674200	Weak transcription	Brain Hippocampus Middle	brain
43	chr4:669800-674600	Weak transcription	Brain Anterior Caudate	brain
44	chr4:669800-674600	Weak transcription	Brain Substantia Nigra	brain
45	chr4:670000-671600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:670000-671600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:670000-673000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:670000-673000	Weak transcription	Right Ventricle	heart
49	chr4:670000-674000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr4:670000-674000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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