Variant report

Variant	rs370112531
Chromosome Location	chr7:48029659-48029660
allele	G/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	FOXA1	chr7:48029295-48029697	HepG2	liver:	n/a	n/a
2	SP1	chr7:48029222-48029710	HepG2	liver:	n/a	n/a
3	GATA2	chr7:48029347-48029811	K562	blood:	n/a	n/a
4	NR3C1	chr7:48029324-48029734	A549	lung:	n/a	n/a
5	NR3C1	chr7:48029225-48029662	A549	lung:	n/a	chr7:48029244-48029260 chr7:48029244-48029260 chr7:48029244-48029260 chr7:48029244-48029260
6	TEAD4	chr7:48029210-48029659	HepG2	liver:	n/a	n/a
7	SPI1	chr7:48029571-48029716	K562	blood:	n/a	n/a
8	NR3C1	chr7:48029274-48029677	A549	lung:	n/a	n/a
9	MYBL2	chr7:48029181-48029704	HepG2	liver:	n/a	n/a
10	SPI1	chr7:48029636-48029836	K562	blood:	n/a	n/a
11	POLR2A	chr7:48029168-48029766	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:48017886..48020914-chr7:48029520..48034474,4	K562	blood:

Variant related genes	Relation type
SUN3	TF binding region
ENSG00000136273	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv888004	chr7:48028771-48120717	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48019800-48031600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:48023200-48031200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:48024200-48030800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:48028400-48031200	Enhancers	HepG2	liver
5	chr7:48028600-48029800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:48028600-48029800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:48028600-48030000	Enhancers	Fetal Intestine Large	intestine
8	chr7:48028800-48030000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:48028800-48030000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:48028800-48030800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:48029000-48030800	Weak transcription	A549	lung
12	chr7:48029000-48031000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:48029000-48031200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:48029000-48031200	Weak transcription	Fetal Lung	lung
15	chr7:48029400-48029800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:48029400-48029800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:48029400-48030200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:48029400-48030200	Enhancers	Placenta	Placenta
19	chr7:48029400-48030800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:48029600-48030000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr7:48029600-48030200	Active TSS	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links