Variant report

Variant	rs61958802
Chromosome Location	chr13:52598799-52598800
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:52598659-52599155	HepG2	liver:	n/a	n/a
2	FOS	chr13:52598752-52598944	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr13:52598326-52600935	K562	blood:	n/a	n/a
4	FOS	chr13:52598677-52599031	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr13:52598597-52598933	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:52598798-52598848	NHBE	bronchial:	n/a
2	chr13:52598798-52598848	PrEC	prostate:	n/a
3	chr13:52598798-52598848	HRE	kidney:	n/a
4	chr13:52598798-52598848	AoSMC	blood vessel:	n/a
5	chr13:52598798-52598848	NB4	blood:	n/a
6	chr13:52598798-52598848	U87	brain:	n/a
7	chr13:52598798-52598848	A549	lung:	n/a
8	chr13:52598798-52598848	SK-N-SH	brain:	n/a
9	chr13:52598798-52598848	NT2-D1	testis:	n/a
10	chr13:52598798-52598848	IMR90	lung:	fetal
11	chr13:52598798-52598848	BE2_C	brain:	n/a
12	chr13:52598798-52598848	HIPEpiC	eye:	n/a
13	chr13:52598798-52598848	T-47D	breast:	n/a
14	chr13:52598798-52598848	HEK293	kidney:	embryo
15	chr13:52598798-52598848	MCF10A-Er-Src	breast:	n/a
16	chr13:52598798-52598848	GM06990	blood:	n/a
17	chr13:52598798-52598848	AG09319	gingival:	n/a
18	chr13:52598798-52598848	Hela-S3	cervix:	n/a
19	chr13:52598798-52598848	NHDF-neo	bronchial:	n/a
20	chr13:52598798-52598848	HCT-116	colon:	n/a
21	chr13:52598798-52598848	AG04449	skin:	fetal
22	chr13:52598798-52598848	K562	blood:	n/a
23	chr13:52598798-52598848	AG04450	lung:	fetal
24	chr13:52598798-52598848	HEEpiC	esophagus:	n/a
25	chr13:52598798-52598848	HCM	heart:	n/a
26	chr13:52598798-52598848	AG10803	skin:	n/a
27	chr13:52598798-52598848	NH-A	brain:	n/a
28	chr13:52598798-52598848	GM12891	blood:	n/a
29	chr13:52598798-52598848	Hepatocyte	liver:	n/a
30	chr13:52598798-52598848	Caco-2	colon:	n/a
31	chr13:52598798-52598848	HCF	heart:	n/a
32	chr13:52598798-52598848	H1-hESC	embryonic stem cell:	embryo
33	chr13:52598798-52598848	Jurkat	blood:	n/a
34	chr13:52598798-52598848	HAEpiC	amniotic membrane:	n/a
35	chr13:52598798-52598848	HMEC	breast:	n/a
36	chr13:52598798-52598848	HepG2	liver:	n/a
37	chr13:52598798-52598848	AG09309	skin:	n/a
38	chr13:52598798-52598848	MCF-7	breast:	n/a
39	chr13:52598798-52598848	ProgFib	skin:	n/a
40	chr13:52598798-52598848	RPTEC	kidney:	n/a
41	chr13:52598798-52598848	HRCEpiC	kidney:	n/a
42	chr13:52598798-52598848	ECC-1	luminal epithelium:	n/a
43	chr13:52598798-52598848	CMK	blood:	n/a
44	chr13:52598798-52598848	SK-N-MC	brain:	n/a
45	chr13:52598798-52598848	SKMC	muscle:	n/a
46	chr13:52598798-52598848	SAEC	small airway:	n/a
47	chr13:52598798-52598848	PFSK-1	brain:	n/a
48	chr13:52598798-52598848	PANC-1	pancreas:	n/a
49	chr13:52598798-52598848	HUVEC	blood vessel:	n/a
50	chr13:52598798-52598848	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52585087..52587899-chr13:52598320..52601537,3	MCF-7	breast:
2	chr13:52592255..52594860-chr13:52597501..52600884,3	K562	blood:

No data

Variant related genes	Relation type
UTP14C	TF binding region
UTP14C	CpG island
ENSG00000123191	Chromatin interaction
ENSG00000253710	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1122934	1.00[ASN][1000 genomes]
rs4091568	1.00[ASN][1000 genomes]
rs4941729	1.00[ASN][1000 genomes]
rs55667430	0.87[ASN][1000 genomes]
rs55715265	1.00[ASN][1000 genomes]
rs57345934	1.00[ASN][1000 genomes]
rs61957231	1.00[ASN][1000 genomes]
rs61957232	1.00[ASN][1000 genomes]
rs61957233	1.00[ASN][1000 genomes]
rs61957238	1.00[ASN][1000 genomes]
rs61957248	1.00[ASN][1000 genomes]
rs61957249	1.00[ASN][1000 genomes]
rs61957252	1.00[ASN][1000 genomes]
rs61957253	1.00[ASN][1000 genomes]
rs61957254	1.00[ASN][1000 genomes]
rs61957255	1.00[ASN][1000 genomes]
rs61957256	1.00[ASN][1000 genomes]
rs61957258	1.00[ASN][1000 genomes]
rs61957297	1.00[ASN][1000 genomes]
rs61958782	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958784	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958786	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958788	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958800	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958801	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958803	1.00[ASN][1000 genomes]
rs61958806	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958807	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958860	1.00[ASN][1000 genomes]
rs61958863	1.00[ASN][1000 genomes]
rs61958865	1.00[ASN][1000 genomes]
rs719349	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7333070	0.87[ASN][1000 genomes]
rs73502305	1.00[ASN][1000 genomes]
rs73502307	1.00[ASN][1000 genomes]
rs9526818	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526840	1.00[ASN][1000 genomes]
rs9535814	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535818	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535831	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535838	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535839	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535850	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535852	1.00[ASN][1000 genomes]
rs9535859	1.00[ASN][1000 genomes]
rs9535869	1.00[ASN][1000 genomes]
rs9535870	1.00[ASN][1000 genomes]
rs9535875	1.00[ASN][1000 genomes]
rs9535881	1.00[ASN][1000 genomes]
rs9535886	1.00[ASN][1000 genomes]
rs9535890	1.00[ASN][1000 genomes]
rs9535892	1.00[ASN][1000 genomes]
rs9535893	1.00[ASN][1000 genomes]
rs9535894	1.00[ASN][1000 genomes]
rs9535897	1.00[ASN][1000 genomes]
rs9535900	1.00[ASN][1000 genomes]
rs9535901	1.00[ASN][1000 genomes]
rs9535902	1.00[ASN][1000 genomes]
rs9535903	1.00[ASN][1000 genomes]
rs9535906	1.00[ASN][1000 genomes]
rs9535909	1.00[ASN][1000 genomes]
rs9535910	1.00[ASN][1000 genomes]
rs9535911	1.00[ASN][1000 genomes]
rs9535913	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv900082	chr13:52555288-52709938	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	esv3492939	chr13:52597220-52599545	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	esv3492941	chr13:52597220-52599545	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	esv3383575	chr13:52597451-52600449	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52587000-52598800	Weak transcription	Small Intestine	intestine
2	chr13:52587000-52600000	Weak transcription	Esophagus	oesophagus
3	chr13:52587200-52600000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr13:52587400-52598800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:52587400-52600000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:52587600-52599400	Weak transcription	Stomach Mucosa	stomach
7	chr13:52588000-52609200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr13:52588000-52617400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr13:52588200-52602200	Weak transcription	Hela-S3	cervix
10	chr13:52589400-52605200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr13:52589800-52603400	Strong transcription	Placenta	Placenta
12	chr13:52589800-52605400	Strong transcription	Fetal Thymus	thymus
13	chr13:52590000-52604400	Strong transcription	Primary T cells from cord blood	blood
14	chr13:52590200-52600400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:52590200-52603400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr13:52590400-52598800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:52590400-52599200	Strong transcription	Fetal Muscle Leg	muscle
18	chr13:52590400-52602000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:52590600-52601400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr13:52590600-52604200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr13:52590800-52599000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr13:52591000-52599400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:52591000-52599400	Weak transcription	Pancreas	Pancrea
24	chr13:52591000-52599800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:52591000-52604600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:52591600-52603400	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr13:52591600-52603400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr13:52591600-52604000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr13:52591800-52599400	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr13:52591800-52599800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr13:52591800-52603600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:52591800-52603800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr13:52592000-52599800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:52592400-52600000	Weak transcription	Gastric	stomach
35	chr13:52592600-52601000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr13:52593400-52600800	Strong transcription	Osteobl	bone
37	chr13:52593600-52599400	Strong transcription	Fetal Intestine Large	intestine
38	chr13:52593600-52600000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr13:52593600-52600400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:52593600-52600600	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr13:52593600-52601600	Strong transcription	Dnd41	blood
42	chr13:52593600-52603000	Strong transcription	GM12878-XiMat	blood
43	chr13:52593600-52603200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr13:52593600-52603400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr13:52593800-52599400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:52593800-52600000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr13:52593800-52600600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:52593800-52604200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr13:52593800-52604400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr13:52593800-52604600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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