Variant report

Variant	rs531767447
Chromosome Location	chr4:670734-670735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:667464-672151	GM12878	blood:	n/a	n/a
2	POLR2A	chr4:670633-670771	A549	lung:	n/a	n/a
3	POLR2A	chr4:670335-670810	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr4:670388-670847	U87	brain:	n/a	n/a
5	POLR2A	chr4:667656-672822	GM19099	blood:	n/a	n/a
6	POLR2A	chr4:670394-670847	U87	brain:	n/a	n/a
7	POLR2A	chr4:667899-673815	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr4:670030-671393	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:670412-673685	HepG2	liver:	n/a	n/a
10	POLR2A	chr4:668697-671413	GM12891	blood:	n/a	n/a
11	USF1	chr4:670450-670746	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr4:667908-672199	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:670175-671004	HepG2	liver:	n/a	n/a
14	POLR2A	chr4:670447-670837	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr4:667840-672164	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr4:670376-671012	HepG2	liver:	n/a	n/a
17	POLR2A	chr4:670605-670869	ProgFib	skin:	n/a	n/a
18	POLR2A	chr4:670513-670885	HCT-116	colon:	n/a	n/a
19	POLR2A	chr4:669596-670848	HepG2	liver:	n/a	n/a
20	POLR2A	chr4:670699-671598	HUVEC	blood vessel:	n/a	n/a
21	USF2	chr4:669680-670761	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:669705-672344	ECC-1	luminal epithelium:	n/a	n/a
23	EBF1	chr4:669615-670857	GM12878	blood:	n/a	chr4:670830-670839 chr4:670724-670734
24	TCF3	chr4:670029-670949	GM12878	blood:	n/a	chr4:670900-670910 chr4:670842-670855 chr4:670795-670808 chr4:670838-670852 chr4:670793-670803
25	MTA3	chr4:667832-670995	GM12878	blood:	n/a	n/a
26	POLR2A	chr4:670373-673590	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr4:667552-670868	GM12892	blood:	n/a	n/a
28	USF1	chr4:670478-670735	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr4:670102-670825	K562	blood:	n/a	n/a
30	PAX5	chr4:670023-670888	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:667550-672298	GM15510	blood:	n/a	n/a
32	POLR2A	chr4:667573-670806	GM18526	blood:	n/a	n/a
33	POLR2A	chr4:670631-671151	GM12892	blood:	n/a	n/a
34	POLR2A	chr4:666866-675998	K562	blood:	n/a	n/a
35	POLR2A	chr4:670599-671423	MCF-7	breast:	n/a	n/a
36	POLR2A	chr4:670638-670975	U87	brain:	n/a	n/a
37	POLR2A	chr4:667409-672803	GM18505	blood:	n/a	n/a
38	POLR2A	chr4:667311-672325	GM19193	blood:	n/a	n/a
39	POLR2A	chr4:670078-670810	GM12878	blood:	n/a	n/a
40	ELF1	chr4:670473-671133	GM12878	blood:	n/a	n/a
41	POLR2A	chr4:667296-675255	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr4:669990-673196	K562	blood:	n/a	n/a
43	POLR2A	chr4:667912-670842	GM12878	blood:	n/a	n/a
44	NFATC1	chr4:669917-670899	GM12878	blood:	n/a	n/a
45	POLR2A	chr4:667740-672261	GM12892	blood:	n/a	n/a
46	POLR2A	chr4:669910-672902	HepG2	liver:	n/a	n/a
47	POLR2A	chr4:669749-670819	HL-60	blood:	n/a	n/a
48	RELA	chr4:669521-670786	GM12891	blood:	n/a	n/a
49	POLR2A	chr4:667888-672448	GM12891	blood:	n/a	n/a
50	POLR2A	chr4:667718-671048	GM12892	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:670694-670744	AG04449	skin:	fetal
2	chr4:670694-670744	HMEC	breast:	n/a
3	chr4:670694-670744	ovcar-3	ovarian:	n/a
4	chr4:670694-670744	HCF	heart:	n/a
5	chr4:670694-670744	HRPEpiC	eye:	n/a
6	chr4:670694-670744	PrEC	prostate:	n/a
7	chr4:670694-670744	HCPEpiC	choroid plexus:	n/a
8	chr4:670694-670744	BJ	skin:	n/a
9	chr4:670694-670744	HPAEpiC	pulmonary alveolar:	n/a
10	chr4:670694-670744	Jurkat	blood:	n/a
11	chr4:670694-670744	SK-N-SH_RA	brain:	n/a
12	chr4:670694-670744	AG04450	lung:	fetal
13	chr4:670694-670744	AG09309	skin:	n/a
14	chr4:670694-670744	CMK	blood:	n/a
15	chr4:670694-670744	HCT-116	colon:	n/a
16	chr4:670694-670744	GM12891	blood:	n/a
17	chr4:670694-670744	Hepatocyte	liver:	n/a
18	chr4:670694-670744	RPTEC	kidney:	n/a
19	chr4:670694-670744	HEK293	kidney:	embryo
20	chr4:670694-670744	NH-A	brain:	n/a
21	chr4:670694-670744	IMR90	lung:	fetal
22	chr4:670694-670744	SK-N-SH	brain:	n/a
23	chr4:670694-670744	ECC-1	luminal epithelium:	n/a
24	chr4:670694-670744	GM12892	blood:	n/a
25	chr4:670694-670744	HIPEpiC	eye:	n/a
26	chr4:670694-670744	Caco-2	colon:	n/a
27	chr4:670694-670744	HL-60	blood:	n/a
28	chr4:670694-670744	T-47D	breast:	n/a
29	chr4:670694-670744	NHDF-neo	bronchial:	n/a
30	chr4:670694-670744	H1-hESC	embryonic stem cell:	embryo
31	chr4:670694-670744	AG09319	gingival:	n/a
32	chr4:670694-670744	ProgFib	skin:	n/a
33	chr4:670694-670744	MCF10A-Er-Src	breast:	n/a
34	chr4:670694-670744	BE2_C	brain:	n/a
35	chr4:670694-670744	AG10803	skin:	n/a
36	chr4:670694-670744	GM12878	blood:	n/a
37	chr4:670694-670744	HCM	heart:	n/a
38	chr4:670694-670744	U87	brain:	n/a
39	chr4:670694-670744	K562	blood:	n/a
40	chr4:670694-670744	NT2-D1	testis:	n/a
41	chr4:670694-670744	GM19239	blood:	n/a
42	chr4:670694-670744	SAEC	small airway:	n/a
43	chr4:670694-670744	LNCaP	prostate:	n/a
44	chr4:670694-670744	A549	lung:	n/a
45	chr4:670694-670744	NB4	blood:	n/a
46	chr4:670694-670744	GM06990	blood:	n/a
47	chr4:670694-670744	HepG2	liver:	n/a
48	chr4:670694-670744	PFSK-1	brain:	n/a
49	chr4:670694-670744	HEEpiC	esophagus:	n/a
50	chr4:670694-670744	HRE	kidney:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:666295..671517-chr4:698228..703248,8	MCF-7	breast:
2	chr4:669988..672792-chr4:681146..683044,2	K562	blood:
3	chr4:491399..494814-chr4:670516..673656,5	K562	blood:
4	chr4:666292..671732-chr4:694079..701503,8	MCF-7	breast:
5	chr4:493062..494777-chr4:668037..670861,2	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
ATP5I	CpG island
MYL5	CpG island
ENSG00000169026	Chromatin interaction
ENSG00000185619	Chromatin interaction
ENSG00000174227	Chromatin interaction
ENSG00000182903	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:668600-670800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr4:668800-670800	Flanking Active TSS	GM12878-XiMat	blood
3	chr4:668800-671200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr4:668800-674400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:669000-672200	Enhancers	Spleen	Spleen
6	chr4:669200-670800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:669200-671000	Enhancers	Fetal Heart	heart
8	chr4:669200-671000	Enhancers	Fetal Thymus	thymus
9	chr4:669200-671200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr4:669200-671400	Enhancers	Primary B cells from peripheral blood	blood
11	chr4:669200-672000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:669200-672600	Enhancers	Esophagus	oesophagus
13	chr4:669200-672600	Enhancers	Fetal Intestine Large	intestine
14	chr4:669200-673000	Enhancers	Pancreas	Pancrea
15	chr4:669200-674200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:669200-674400	Weak transcription	Fetal Lung	lung
17	chr4:669400-671000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:669400-671200	Enhancers	Primary B cells from cord blood	blood
19	chr4:669400-671400	Enhancers	Psoas Muscle	Psoas
20	chr4:669400-672200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:669400-672800	Enhancers	Duodenum Mucosa	Duodenum
22	chr4:669400-674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:669400-674200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr4:669400-674200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:669400-674200	Weak transcription	NH-A	brain
26	chr4:669400-674400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:669400-674400	Weak transcription	Ovary	ovary
28	chr4:669400-674400	Weak transcription	Right Atrium	heart
29	chr4:669400-674600	Enhancers	Placenta	Placenta
30	chr4:669400-674600	Weak transcription	HUVEC	blood vessel
31	chr4:669600-670800	Weak transcription	Colonic Mucosa	Colon
32	chr4:669600-671000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:669600-671000	Weak transcription	HMEC	breast
34	chr4:669600-671400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:669600-671400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:669600-671600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr4:669600-671800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:669600-673800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr4:669600-674000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:669600-674000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr4:669600-674000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:669600-674000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:669600-674000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr4:669600-674200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:669600-674200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr4:669600-674200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:669600-674200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:669600-674200	Weak transcription	Osteobl	bone
49	chr4:669600-674400	Weak transcription	Primary T cells from cord blood	blood
50	chr4:669600-674400	Weak transcription	NHLF	lung

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