Variant report

Variant	rs36045414
Chromosome Location	chr1:47019351-47019352
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:47019320-47019470	GM12869	blood:	n/a	n/a
2	CTCF	chr1:47019300-47019450	K562	blood:	n/a	n/a
3	CTCF	chr1:47019260-47019410	WERI-Rb-1	eye:	n/a	n/a
4	CTCF	chr1:47019320-47019470	HepG2	liver:	n/a	n/a
5	CTCF	chr1:47019222-47019567	K562	blood:	n/a	n/a
6	CTCF	chr1:47019338-47019465	GM12892	blood:	n/a	n/a
7	RAD21	chr1:47019271-47019559	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr1:47019287-47019473	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr1:47019212-47019557	K562	blood:	n/a	n/a
10	CTCF	chr1:47019280-47019430	HCPEpiC	choroid plexus:	n/a	n/a
11	CTCF	chr1:47019330-47019432	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr1:47019320-47019470	GM12874	blood:	n/a	n/a
13	CTCF	chr1:47019300-47019450	HMF	breast:	n/a	n/a
14	SPI1	chr1:47019250-47019427	K562	blood:	n/a	n/a
15	CTCF	chr1:47019298-47019492	HepG2	liver:	n/a	n/a
16	CTCF	chr1:47019220-47019370	HVMF	connective:	n/a	n/a
17	CTCF	chr1:47019280-47019430	K562	blood:	n/a	n/a
18	RAD21	chr1:47019209-47019539	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr1:47019330-47019468	Medullo	brain:	n/a	n/a
20	MYC	chr1:47019350-47019374	NB4	blood:	n/a	n/a
21	CTCF	chr1:47019237-47019535	GM12878	blood:	n/a	n/a
22	RAD21	chr1:47019299-47019516	HepG2	liver:	n/a	n/a
23	CTCF	chr1:47019320-47019470	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr1:47019260-47019410	AG04449	skin:	n/a	n/a
25	RAD21	chr1:47019288-47019455	K562	blood:	n/a	n/a
26	RAD21	chr1:47019150-47019529	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr1:47019351-47019445	GM12878	blood:	n/a	n/a
28	RAD21	chr1:47019303-47019478	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr1:47019280-47019430	HepG2	liver:	n/a	n/a
30	CTCF	chr1:47019211-47019592	K562	blood:	n/a	n/a
31	CTCF	chr1:47019327-47019464	HepG2	liver:	n/a	n/a
32	RAD21	chr1:47019273-47019467	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr1:47019320-47019470	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr1:47019348-47019462	GM19238	blood:	n/a	n/a
35	CTCF	chr1:47019300-47019450	HEK293	kidney:	n/a	n/a
36	CTCF	chr1:47019300-47019450	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr1:47019285-47019489	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47015863..47022104-chr1:47022936..47029939,8	K562	blood:
2	chr1:47012476..47015757-chr1:47016043..47020828,4	K562	blood:

No data

Variant related genes	Relation type
KNCN	TF binding region
ENSG00000079277	Chromatin interaction
ENSG00000162456	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10890403	0.86[EUR][1000 genomes]
rs12131300	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12142727	0.88[ASN][1000 genomes]
rs12145313	0.87[ASN][1000 genomes]
rs1923810	0.91[ASN][1000 genomes]
rs2146562	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4442318	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4660356	0.89[ASN][1000 genomes]

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	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv998422	chr1:46969626-47023671	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv534953	chr1:46969626-47023671	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1009899	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv534954	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv1008246	chr1:47007844-47069845	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
13	nsv1011892	chr1:47010519-47067492	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46999600-47035000	Weak transcription	Right Atrium	heart
2	chr1:47013800-47022000	Weak transcription	HMEC	breast
3	chr1:47014000-47026600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:47015400-47024600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:47015600-47024000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:47015600-47024200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:47015600-47025800	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:47015800-47023400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:47015800-47023800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:47015800-47023800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:47015800-47024600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:47015800-47026200	Weak transcription	Primary B cells from cord blood	blood
13	chr1:47015800-47041200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:47015800-47043400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:47016000-47020000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:47016000-47023200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:47016000-47025200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:47016000-47025600	Weak transcription	Fetal Brain Female	brain
19	chr1:47016000-47027000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:47016000-47037400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:47016200-47026000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:47016200-47030400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:47016400-47023600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:47016400-47025600	Weak transcription	Brain Anterior Caudate	brain
25	chr1:47016600-47020000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:47016600-47023400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:47016800-47020000	Weak transcription	Fetal Brain Male	brain
28	chr1:47016800-47034800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:47017600-47039800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:47017800-47024200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:47018000-47022000	Weak transcription	Spleen	Spleen
32	chr1:47018400-47023000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr1:47018600-47023200	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:47018600-47023200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:47018800-47022000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:47019000-47019400	Enhancers	Fetal Thymus	thymus
37	chr1:47019000-47026200	Weak transcription	HepG2	liver
38	chr1:47019200-47023800	Weak transcription	Colonic Mucosa	Colon
39	chr1:47019200-47024200	Weak transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links