Variant report

Variant	rs115897658
Chromosome Location	chr1:85748540-85748541
allele	C/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	SP1	chr1:85748050-85748554	H1-hESC	embryonic stem cell:	n/a	chr1:85748160-85748170
2	CTCF	chr1:85748003-85748623	HCT-116	colon:	n/a	chr1:85748353-85748362
3	CTCF	chr1:85747896-85748721	A549	lung:	n/a	chr1:85748353-85748362
4	TEAD4	chr1:85748110-85748543	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr1:85748054-85748591	MCF-7	breast:	n/a	chr1:85748353-85748362

No.	Distal block	Cell Line	Cell type
1	chr1:85742898..85744863-chr1:85746512..85748542,2	MCF-7	breast:
2	chr1:85740526..85742722-chr1:85746661..85748660,2	MCF-7	breast:
3	chr1:85743465..85746291-chr1:85746776..85749038,2	MCF-7	breast:
4	chr1:85741905..85744580-chr1:85747619..85751624,6	K562	blood:
5	chr1:85739297..85743309-chr1:85744628..85748559,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264380	TF binding region
ENSG00000223653	Chromatin interaction
ENSG00000142867	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3450265	chr1:85747914-85749962	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	esv2574928	chr1:85748263-85749909	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
6	esv8174	chr1:85748368-85749220	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
7	esv2065463	chr1:85748418-85749137	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
8	esv1008164	chr1:85748448-85749693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	esv3372523	chr1:85748464-85749462	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	esv3320352	chr1:85748504-85749056	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
11	esv3507756	chr1:85748516-85749040	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
12	esv3507761	chr1:85748532-85749059	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
13	esv3232	chr1:85748537-85749078	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85742800-85763000	Weak transcription	Ovary	ovary
2	chr1:85743000-85749200	Weak transcription	Fetal Stomach	stomach
3	chr1:85743000-85749200	Weak transcription	Psoas Muscle	Psoas
4	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
5	chr1:85743200-85752000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:85745200-85753600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:85745400-85749000	Weak transcription	A549	lung
8	chr1:85745400-85749200	Weak transcription	Colonic Mucosa	Colon
9	chr1:85745400-85749400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:85745600-85749000	Weak transcription	Stomach Mucosa	stomach
11	chr1:85745600-85749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:85745600-85749200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:85745600-85749400	Weak transcription	Gastric	stomach
14	chr1:85745600-85749400	Weak transcription	Pancreas	Pancrea
15	chr1:85745800-85749000	Weak transcription	HMEC	breast
16	chr1:85745800-85749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:85745800-85749400	Weak transcription	Lung	lung
18	chr1:85745800-85749600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:85746800-85749000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:85746800-85753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:85747000-85749200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:85747000-85749600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:85747200-85749200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:85747600-85749400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:85747600-85750200	Weak transcription	Primary B cells from cord blood	blood
26	chr1:85747800-85748600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:85747800-85748600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:85747800-85748600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr1:85747800-85750000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:85748000-85748600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:85748000-85748600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr1:85748000-85749200	Enhancers	HepG2	liver
33	chr1:85748000-85749600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:85748000-85749800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr1:85748000-85750000	Enhancers	NHEK	skin
36	chr1:85748200-85748600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr1:85748400-85748800	Weak transcription	Esophagus	oesophagus
38	chr1:85748400-85749600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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