Variant report

Variant	rs149539667
Chromosome Location	chr5:95301942-95301943
allele	-/T
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	RXRA	chr5:95301690-95302087	HepG2	liver:	n/a	n/a
2	HDAC2	chr5:95301641-95302162	MCF-7	breast:	n/a	chr5:95302081-95302089 chr5:95302028-95302037
3	GATA3	chr5:95301652-95302102	T-47D	breast:	n/a	n/a
4	FOXA1	chr5:95301285-95302234	HepG2	liver:	n/a	chr5:95301887-95301902
5	TEAD4	chr5:95301578-95302181	HepG2	liver:	n/a	n/a
6	HNF4A	chr5:95301710-95302048	HepG2	liver:	n/a	n/a
7	FOXA1	chr5:95301646-95302250	HepG2	liver:	n/a	chr5:95301887-95301902
8	SP1	chr5:95301634-95302109	HepG2	liver:	n/a	chr5:95302093-95302106
9	EP300	chr5:95301664-95302169	HepG2	liver:	n/a	n/a
10	SMC3	chr5:95301759-95302052	HepG2	liver:	n/a	n/a
11	MAFF	chr5:95301594-95301981	HepG2	liver:	n/a	n/a
12	HDAC2	chr5:95301628-95302173	HepG2	liver:	n/a	chr5:95302081-95302089 chr5:95302028-95302037
13	FOXA1	chr5:95301659-95302091	T-47D	breast:	n/a	chr5:95301887-95301902
14	MYBL2	chr5:95301596-95302188	HepG2	liver:	n/a	n/a
15	NFIC	chr5:95301625-95302113	HepG2	liver:	n/a	n/a
16	ARID3A	chr5:95301713-95302152	HepG2	liver:	n/a	n/a
17	GATA3	chr5:95301641-95302002	T-47D	breast:	n/a	n/a
18	MBD4	chr5:95301673-95302140	HepG2	liver:	n/a	n/a
19	TCF12	chr5:95301551-95302225	A549	lung:	n/a	chr5:95302099-95302106
20	EP300	chr5:95301757-95302068	HepG2	liver:	n/a	n/a
21	JUND	chr5:95301799-95302051	HepG2	liver:	n/a	n/a
22	NFIC	chr5:95301547-95302178	HepG2	liver:	n/a	n/a
23	NR2F2	chr5:95301729-95302143	MCF-7	breast:	n/a	n/a
24	FOXA1	chr5:95301517-95302170	HepG2	liver:	n/a	chr5:95301887-95301902
25	FOXA2	chr5:95301556-95302226	A549	lung:	n/a	n/a
26	FOXA2	chr5:95300849-95302517	HepG2	liver:	n/a	n/a
27	SIN3AK20	chr5:95301552-95302253	MCF-7	breast:	n/a	n/a
28	MYBL2	chr5:95301634-95302217	HepG2	liver:	n/a	n/a
29	RAD21	chr5:95301639-95302166	HepG2	liver:	n/a	n/a
30	RAD21	chr5:95301795-95301995	HepG2	liver:	n/a	n/a
31	FOXA1	chr5:95301602-95302184	HepG2	liver:	n/a	chr5:95301887-95301902
32	GATA3	chr5:95301624-95302229	MCF-7	breast:	n/a	n/a
33	HNF4G	chr5:95301717-95302046	HepG2	liver:	n/a	n/a
34	TCF12	chr5:95301714-95302036	HepG2	liver:	n/a	n/a
35	MBD4	chr5:95301613-95302138	HepG2	liver:	n/a	n/a
36	FOXA1	chr5:95301695-95302228	T-47D	breast:	n/a	chr5:95301887-95301902
37	RCOR1	chr5:95301791-95302119	HepG2	liver:	n/a	n/a
38	EP300	chr5:95301566-95302162	HepG2	liver:	n/a	n/a
39	FOXA2	chr5:95301655-95302232	HepG2	liver:	n/a	n/a
40	MAZ	chr5:95301713-95302031	HepG2	liver:	n/a	n/a
41	HDAC2	chr5:95301688-95302083	HepG2	liver:	n/a	chr5:95302028-95302037
42	REST	chr5:95301783-95302072	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:95294561..95296390-chr5:95300649..95302787,2	MCF-7	breast:
2	chr5:95296576..95299707-chr5:95301060..95302868,3	MCF-7	breast:
3	chr5:95294835..95302887-chr5:95306601..95313873,11	K562	blood:

Variant related genes	Relation type
ELL2	TF binding region
ENSG00000213716	Chromatin interaction
ENSG00000118985	Chromatin interaction
ENSG00000251314	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv823146	chr5:95300912-95453557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95298400-95309200	Weak transcription	NHLF	lung
2	chr5:95298600-95302000	Weak transcription	Fetal Intestine Large	intestine
3	chr5:95298600-95305000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:95298600-95305200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:95298800-95302000	Weak transcription	Gastric	stomach
6	chr5:95298800-95322600	Weak transcription	Pancreas	Pancrea
7	chr5:95299600-95309000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:95300000-95308600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:95300200-95303000	Enhancers	HepG2	liver
10	chr5:95300600-95302600	Enhancers	Liver	Liver
11	chr5:95301000-95302200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr5:95301400-95302400	Enhancers	A549	lung
13	chr5:95301400-95302800	Enhancers	Stomach Mucosa	stomach
14	chr5:95301600-95303400	Enhancers	Fetal Intestine Small	intestine

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