Variant report

Variant	rs572966603
Chromosome Location	chr5:179867569-179867570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:179867480-179867630	HCPEpiC	choroid plexus:	n/a	n/a
2	CTCF	chr5:179867556-179867639	GM19238	blood:	n/a	n/a
3	RAD21	chr5:179867376-179867781	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr5:179867565-179867654	Hela-S3	cervix:	n/a	n/a
5	RAD21	chr5:179867383-179867741	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr5:179867540-179867690	NB4	blood:	n/a	n/a
7	CTCF	chr5:179867462-179867662	K562	blood:	n/a	n/a
8	CTCF	chr5:179867500-179867650	HepG2	liver:	n/a	n/a
9	CTCF	chr5:179867373-179867739	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr5:179867460-179867610	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr5:179867500-179867650	HAc	cerebellar:	n/a	n/a
12	CTCF	chr5:179867442-179867681	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr5:179867523-179867695	HepG2	liver:	n/a	n/a
14	CTCF	chr5:179867460-179867653	K562	blood:	n/a	n/a
15	CTCF	chr5:179867540-179867690	GM12864	blood:	n/a	n/a
16	ZNF143	chr5:179867226-179867700	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr5:179867540-179867690	K562	blood:	n/a	n/a
18	CTCF	chr5:179867459-179867810	K562	blood:	n/a	n/a
19	CTCF	chr5:179867484-179867676	HepG2	liver:	n/a	n/a
20	CTCF	chr5:179867553-179867618	MCF-7	breast:	n/a	n/a
21	CTCF	chr5:179867524-179867599	Fibrobl	skin:	n/a	n/a
22	RAD21	chr5:179867319-179867793	H1-hESC	embryonic stem cell:	n/a	n/a
23	TBP	chr5:179867302-179867656	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr5:179867480-179867630	HCM	heart:	n/a	n/a
25	CTCF	chr5:179867520-179867670	MCF-7	breast:	n/a	n/a
26	CTCF	chr5:179867394-179867647	HepG2	liver:	n/a	n/a
27	CTCF	chr5:179867385-179867685	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr5:179867564-179867605	GM12891	blood:	n/a	n/a
29	CTCF	chr5:179867520-179867688	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179862809..179864746-chr5:179865853..179867596,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250509	TF binding region
RNU6-525P	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv830563	chr5:179717693-179898609	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
8	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
9	nsv1023537	chr5:179791679-179982822	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv537985	chr5:179791679-179982822	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv1022818	chr5:179818116-179869311	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv537986	chr5:179818116-179869311	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv2752977	chr5:179860394-179885394	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1019519	chr5:179866730-179959408	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179866000-179869800	Enhancers	Placenta	Placenta
2	chr5:179866400-179868400	Enhancers	Hela-S3	cervix
3	chr5:179867200-179867600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:179867200-179867600	Enhancers	Esophagus	oesophagus
5	chr5:179867200-179867600	Enhancers	Spleen	Spleen
6	chr5:179867200-179867600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr5:179867200-179867800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:179867200-179868600	Enhancers	A549	lung
9	chr5:179867400-179867600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:179867400-179867600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:179867400-179867600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:179867400-179867600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr5:179867400-179867600	Bivalent Enhancer	NHEK	skin
14	chr5:179867400-179867800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:179867400-179867800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:179867400-179867800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:179867400-179868000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr5:179867400-179868000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:179867400-179868400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:179867400-179868800	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links