Variant report

Variant	rs371511199
Chromosome Location	chr1:85748168-85748169
allele	A/G
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	CTCF	chr1:85748140-85748290	HPF	lung:	n/a	n/a
2	CTCF	chr1:85748140-85748290	GM12868	blood:	n/a	n/a
3	CTCF	chr1:85748140-85748290	GM12866	blood:	n/a	n/a
4	SP1	chr1:85748050-85748554	H1-hESC	embryonic stem cell:	n/a	chr1:85748160-85748170
5	CTCF	chr1:85748003-85748623	HCT-116	colon:	n/a	chr1:85748353-85748362
6	CTCF	chr1:85748090-85748515	H1-hESC	embryonic stem cell:	n/a	chr1:85748353-85748362
7	TCF12	chr1:85748159-85748470	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr1:85748121-85748524	K562	blood:	n/a	chr1:85748353-85748362
9	CTCF	chr1:85748065-85748412	H1-hESC	embryonic stem cell:	n/a	chr1:85748353-85748362
10	CTCF	chr1:85748140-85748290	BJ	skin:	n/a	n/a
11	RAD21	chr1:85748077-85748509	H1-hESC	embryonic stem cell:	n/a	n/a
12	GATA3	chr1:85748145-85748366	T-47D	breast:	n/a	chr1:85748243-85748256 chr1:85748247-85748254 chr1:85748245-85748254 chr1:85748245-85748255
13	CTCF	chr1:85748129-85748401	K562	blood:	n/a	chr1:85748353-85748362
14	CTCF	chr1:85748128-85748436	K562	blood:	n/a	chr1:85748353-85748362
15	CTCF	chr1:85748160-85748310	HCT-116	colon:	n/a	n/a
16	CTCF	chr1:85748140-85748290	GM12871	blood:	n/a	n/a
17	CTCF	chr1:85748140-85748290	BE2_C	brain:	n/a	n/a
18	POLR2A	chr1:85748153-85748389	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr1:85748100-85748250	RPTEC	kidney:	n/a	n/a
20	CTCF	chr1:85748160-85748310	GM12871	blood:	n/a	n/a
21	CTCF	chr1:85747896-85748721	A549	lung:	n/a	chr1:85748353-85748362
22	CTCF	chr1:85748160-85748310	GM12872	blood:	n/a	n/a
23	TEAD4	chr1:85748110-85748543	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr1:85748160-85748310	GM12865	blood:	n/a	n/a
25	CTCF	chr1:85748096-85748386	K562	blood:	n/a	chr1:85748353-85748362
26	CTCF	chr1:85748060-85748210	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr1:85748140-85748290	AG04449	skin:	n/a	n/a
28	RAD21	chr1:85748053-85748525	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr1:85748160-85748310	GM06990	blood:	n/a	n/a
30	CTCF	chr1:85748120-85748418	HepG2	liver:	n/a	chr1:85748353-85748362
31	ZNF143	chr1:85748129-85748516	H1-hESC	embryonic stem cell:	n/a	chr1:85748395-85748404
32	CTCF	chr1:85748054-85748591	MCF-7	breast:	n/a	chr1:85748353-85748362
33	CTCF	chr1:85748140-85748290	GM12872	blood:	n/a	n/a
34	CTCF	chr1:85748120-85748270	SK-N-SH_RA	brain:	n/a	n/a
35	RAD21	chr1:85748117-85748466	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr1:85748140-85748390	A549	lung:	n/a	chr1:85748353-85748362

No.	Distal block	Cell Line	Cell type
1	chr1:85747755..85748502-chr1:85773895..85774432,2	MCF-7	breast:
2	chr1:85742898..85744863-chr1:85746512..85748542,2	MCF-7	breast:
3	chr1:85740526..85742722-chr1:85746661..85748660,2	MCF-7	breast:
4	chr1:85743465..85746291-chr1:85746776..85749038,2	MCF-7	breast:
5	chr1:85741905..85744580-chr1:85747619..85751624,6	K562	blood:
6	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: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:39 , 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	chr1:85743200-85748200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:85743200-85752000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:85745200-85753600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr1:85745400-85749000	Weak transcription	A549	lung
9	chr1:85745400-85749200	Weak transcription	Colonic Mucosa	Colon
10	chr1:85745400-85749400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:85745600-85748200	Weak transcription	Esophagus	oesophagus
12	chr1:85745600-85749000	Weak transcription	Stomach Mucosa	stomach
13	chr1:85745600-85749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:85745600-85749200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:85745600-85749400	Weak transcription	Gastric	stomach
16	chr1:85745600-85749400	Weak transcription	Pancreas	Pancrea
17	chr1:85745800-85749000	Weak transcription	HMEC	breast
18	chr1:85745800-85749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:85745800-85749400	Weak transcription	Lung	lung
20	chr1:85745800-85749600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:85746800-85749000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:85746800-85753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:85747000-85749200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:85747000-85749600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:85747200-85749200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:85747600-85749400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:85747600-85750200	Weak transcription	Primary B cells from cord blood	blood
28	chr1:85747800-85748600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:85747800-85748600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:85747800-85748600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:85747800-85750000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:85748000-85748200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:85748000-85748400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:85748000-85748600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:85748000-85748600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr1:85748000-85749200	Enhancers	HepG2	liver
37	chr1:85748000-85749600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr1:85748000-85749800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr1:85748000-85750000	Enhancers	NHEK	skin

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