Variant report

Variant	rs371161380
Chromosome Location	chr4:69817101-69817102
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr4:69817085-69817686	HepG2	liver:	n/a	n/a
2	NFIC	chr4:69816915-69818286	HepG2	liver:	n/a	n/a
3	MBD4	chr4:69816825-69817630	HepG2	liver:	n/a	n/a
4	MBD4	chr4:69816845-69817679	HepG2	liver:	n/a	n/a
5	TBP	chr4:69816831-69818180	HepG2	liver:	n/a	n/a
6	REST	chr4:69816822-69817565	HepG2	liver:	n/a	n/a
7	RFX5	chr4:69817091-69817588	HepG2	liver:	n/a	n/a
8	FOXA1	chr4:69817024-69818124	HepG2	liver:	n/a	n/a
9	MAX	chr4:69817096-69818126	HepG2	liver:	n/a	n/a
10	HEY1	chr4:69816726-69817598	HepG2	liver:	n/a	n/a
11	SP1	chr4:69816858-69817729	HepG2	liver:	n/a	n/a
12	JUND	chr4:69816958-69817635	HepG2	liver:	n/a	n/a
13	POLR2A	chr4:69816799-69817610	HepG2	liver:	n/a	n/a
14	ATF2	chr4:69816810-69817127	H1-hESC	embryonic stem cell:	n/a	n/a
15	TCF12	chr4:69817099-69817614	A549	lung:	n/a	n/a
16	SMC3	chr4:69816856-69817621	HepG2	liver:	n/a	n/a
17	TEAD4	chr4:69816752-69817741	HepG2	liver:	n/a	n/a
18	SP1	chr4:69817077-69817606	A549	lung:	n/a	n/a
19	POLR2A	chr4:69816753-69817985	HepG2	liver:	n/a	n/a
20	HEY1	chr4:69816753-69817699	HepG2	liver:	n/a	n/a
21	RAD21	chr4:69817069-69817669	HepG2	liver:	n/a	n/a
22	FOXA1	chr4:69816989-69817615	HepG2	liver:	n/a	n/a
23	POLR2A	chr4:69816645-69817668	HepG2	liver:	n/a	n/a
24	RAD21	chr4:69816827-69817110	H1-hESC	embryonic stem cell:	n/a	n/a
25	FOXA1	chr4:69817086-69817708	HepG2	liver:	n/a	n/a
26	MYBL2	chr4:69816662-69818029	HepG2	liver:	n/a	n/a
27	ARID3A	chr4:69816858-69818218	HepG2	liver:	n/a	n/a
28	MXI1	chr4:69816854-69817552	HepG2	liver:	n/a	n/a
29	RCOR1	chr4:69817086-69817541	HepG2	liver:	n/a	n/a
30	MYBL2	chr4:69817030-69817663	HepG2	liver:	n/a	n/a
31	POLR2A	chr4:69816844-69817639	HepG2	liver:	n/a	n/a
32	POLR2A	chr4:69816788-69817634	HepG2	liver:	n/a	n/a
33	EP300	chr4:69817047-69817732	HepG2	liver:	n/a	n/a
34	RXRA	chr4:69817070-69817644	HepG2	liver:	n/a	n/a
35	MAFF	chr4:69817032-69817623	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:69817080-69817130	K562	blood:	n/a
2	chr4:69817080-69817130	SK-N-SH_RA	brain:	n/a
3	chr4:69817080-69817130	GM19239	blood:	n/a
4	chr4:69817080-69817130	PFSK-1	brain:	n/a
5	chr4:69817080-69817130	GM06990	blood:	n/a
6	chr4:69817080-69817130	PANC-1	pancreas:	n/a
7	chr4:69817080-69817130	U87	brain:	n/a
8	chr4:69817080-69817130	A549	lung:	n/a
9	chr4:69817080-69817130	AoSMC	blood vessel:	n/a
10	chr4:69817080-69817130	NH-A	brain:	n/a
11	chr4:69817080-69817130	RPTEC	kidney:	n/a
12	chr4:69817080-69817130	SK-N-MC	brain:	n/a
13	chr4:69817080-69817130	BJ	skin:	n/a
14	chr4:69817080-69817130	Jurkat	blood:	n/a
15	chr4:69817080-69817130	Hela-S3	cervix:	n/a
16	chr4:69817080-69817130	HRCEpiC	kidney:	n/a
17	chr4:69817080-69817130	MCF10A-Er-Src	breast:	n/a
18	chr4:69817080-69817130	HCM	heart:	n/a
19	chr4:69817080-69817130	HPAEpiC	pulmonary alveolar:	n/a
20	chr4:69817080-69817130	AG10803	skin:	n/a
21	chr4:69817080-69817130	HCPEpiC	choroid plexus:	n/a
22	chr4:69817080-69817130	AG09309	skin:	n/a
23	chr4:69817080-69817130	HAEpiC	amniotic membrane:	n/a
24	chr4:69817080-69817130	AG04449	skin:	fetal
25	chr4:69817080-69817130	ovcar-3	ovarian:	n/a
26	chr4:69817080-69817130	IMR90	lung:	fetal
27	chr4:69817080-69817130	HNPCEpiC	eye:	n/a
28	chr4:69817080-69817130	HRPEpiC	eye:	n/a
29	chr4:69817080-69817130	HCT-116	colon:	n/a
30	chr4:69817080-69817130	SKMC	muscle:	n/a
31	chr4:69817080-69817130	HEK293	kidney:	embryo
32	chr4:69817080-69817130	SK-N-SH	brain:	n/a
33	chr4:69817080-69817130	NB4	blood:	n/a
34	chr4:69817080-69817130	HIPEpiC	eye:	n/a
35	chr4:69817080-69817130	Caco-2	colon:	n/a
36	chr4:69817080-69817130	ProgFib	skin:	n/a
37	chr4:69817080-69817130	GM12892	blood:	n/a
38	chr4:69817080-69817130	Hepatocyte	liver:	n/a
39	chr4:69817080-69817130	MCF-7	breast:	n/a
40	chr4:69817080-69817130	HUVEC	blood vessel:	n/a
41	chr4:69817080-69817130	CMK	blood:	n/a
42	chr4:69817080-69817130	HMEC	breast:	n/a
43	chr4:69817080-69817130	NHDF-neo	bronchial:	n/a
44	chr4:69817080-69817130	GM12878	blood:	n/a
45	chr4:69817080-69817130	SAEC	small airway:	n/a
46	chr4:69817080-69817130	ECC-1	luminal epithelium:	n/a
47	chr4:69817080-69817130	HepG2	liver:	n/a
48	chr4:69817080-69817130	T-47D	breast:	n/a
49	chr4:69817080-69817130	HL-60	blood:	n/a
50	chr4:69817080-69817130	GM12891	blood:	n/a

No data

Variant related genes	Relation type
UGT2A3	TF binding region
UGT2A3	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005513	chr4:69446718-69890307	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	esv3398036	chr4:69700493-69841391	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	49 gene(s)	inside rSNPs	diseases
6	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv436447	chr4:69743339-69851390	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv967758	chr4:69780530-69870183	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv829962	chr4:69786869-69910283	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv10519	chr4:69816500-69835939	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69808600-69819600	Weak transcription	Small Intestine	intestine
2	chr4:69811600-69817600	Active TSS	Fetal Intestine Large	intestine
3	chr4:69812200-69817800	Active TSS	Duodenum Mucosa	Duodenum
4	chr4:69812600-69817600	Active TSS	Fetal Intestine Small	intestine
5	chr4:69812600-69817600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr4:69814200-69817400	Active TSS	Fetal Stomach	stomach
7	chr4:69814400-69817400	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr4:69814400-69817600	Active TSS	Fetal Kidney	kidney
9	chr4:69814600-69817200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr4:69814600-69817400	Active TSS	Liver	Liver
11	chr4:69815200-69825600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:69816400-69817400	Active TSS	Colonic Mucosa	Colon
13	chr4:69816800-69817400	Active TSS	Pancreas	Pancrea
14	chr4:69816800-69817400	Active TSS	Rectal Smooth Muscle	rectum
15	chr4:69816800-69817600	Enhancers	Stomach Mucosa	stomach
16	chr4:69817000-69817200	Flanking Active TSS	HepG2	liver
17	chr4:69817000-69817400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:69817000-69817400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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