Variant report

Variant	rs58583694
Chromosome Location	chr14:24863672-24863673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:24863540-24863690	HCPEpiC	choroid plexus:	n/a	n/a
2	RAD21	chr14:24863507-24863726	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr14:24863549-24863712	LNCaP	prostate:	n/a	n/a
4	CTCF	chr14:24863631-24863687	MCF-7	breast:	n/a	n/a
5	CTCF	chr14:24863560-24863710	HCPEpiC	choroid plexus:	n/a	n/a
6	CTCF	chr14:24863540-24863690	Caco-2	colon:	n/a	n/a
7	CTCF	chr14:24863600-24863750	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr14:24863620-24863682	ProgFib	skin:	n/a	n/a
9	SMC3	chr14:24863524-24863717	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr14:24863540-24863690	HEK293	kidney:	n/a	n/a
11	CTCF	chr14:24863620-24863770	AG09309	skin:	n/a	n/a
12	CTCF	chr14:24863660-24863810	A549	lung:	n/a	n/a
13	CTCF	chr14:24863560-24863710	NHDF-neo	bronchial:	n/a	n/a
14	CTCF	chr14:24863574-24863713	MCF-7	breast:	n/a	n/a
15	CTCF	chr14:24863660-24863810	NHEK	skin:	n/a	n/a
16	CTCF	chr14:24863540-24863690	GM12873	blood:	n/a	n/a
17	CTCF	chr14:24863620-24863770	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr14:24863580-24863730	HMEC	breast:	n/a	n/a
19	CTCF	chr14:24863640-24863790	AG10803	skin:	n/a	n/a
20	CTCF	chr14:24863572-24863778	K562	blood:	n/a	n/a
21	CTCF	chr14:24863645-24863684	A549	lung:	n/a	n/a
22	RAD21	chr14:24863511-24863787	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr14:24863576-24863722	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr14:24863552-24863726	A549	lung:	n/a	n/a
25	CTCF	chr14:24863600-24863750	HEEpiC	esophagus:	n/a	n/a
26	CTCF	chr14:24863578-24863724	NHEK	skin:	n/a	n/a
27	CTCF	chr14:24863540-24863690	SAEC	small airway:	n/a	n/a
28	CTCF	chr14:24863580-24863730	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr14:24863580-24863730	AG04449	skin:	n/a	n/a
30	RAD21	chr14:24863509-24863739	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr14:24863540-24863690	NHEK	skin:	n/a	n/a
32	CTCF	chr14:24863660-24863810	HMEC	breast:	n/a	n/a
33	CTCF	chr14:24863660-24863810	HRE	kidney:	n/a	n/a
34	CTCF	chr14:24863586-24863721	MCF-7	breast:	n/a	n/a
35	CTCF	chr14:24863541-24863747	HepG2	liver:	n/a	n/a
36	CTCF	chr14:24863580-24863730	MCF-7	breast:	n/a	n/a
37	CTCF	chr14:24863372-24863925	HCT-116	colon:	n/a	n/a
38	CTCF	chr14:24863600-24863681	LNCaP	prostate:	n/a	n/a
39	CTCF	chr14:24863364-24863904	MCF-7	breast:	n/a	n/a
40	ZNF384	chr14:24863608-24863823	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24833467..24839902-chr14:24859160..24864405,20	MCF-7	breast:
2	chr14:24858434..24861313-chr14:24861700..24864239,2	K562	blood:
3	chr14:24863615..24865970-chr14:24866797..24868949,3	K562	blood:
4	chr14:24857849..24868599-chr14:24892485..24903992,27	MCF-7	breast:
5	chr14:24861298..24864304-chr14:24910637..24912997,3	MCF-7	breast:
6	chr14:24842752..24851075-chr14:24856697..24867572,25	MCF-7	breast:
7	chr14:24863230..24864059-chr14:24881607..24882294,2	MCF-7	breast:
8	chr14:24862205..24864720-chr14:24888847..24891596,2	K562	blood:
9	chr14:24842116..24850865-chr14:24857760..24868159,21	MCF-7	breast:
10	chr14:24834637..24835255-chr14:24863250..24863914,2	MCF-7	breast:
11	chr14:24861396..24863680-chr14:24873747..24875819,2	MCF-7	breast:
12	chr14:24860191..24864125-chr14:24897028..24901023,4	K562	blood:

No data

Variant related genes	Relation type
NYNRIN	TF binding region
ENSG00000100968	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000205978	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000100441	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11846223	0.98[ASN][1000 genomes]
rs11851567	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57437663	0.85[ASN][1000 genomes]
rs982975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24859000-24865000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:24859000-24867000	Weak transcription	Right Atrium	heart
3	chr14:24859200-24866200	Weak transcription	Fetal Stomach	stomach
4	chr14:24859200-24867200	Weak transcription	NHLF	lung
5	chr14:24860400-24864800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:24860800-24864400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr14:24860800-24864600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr14:24860800-24864800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:24860800-24864800	Weak transcription	Gastric	stomach
10	chr14:24860800-24867200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:24860800-24867200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:24860800-24867600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr14:24860800-24868000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr14:24861000-24865400	Weak transcription	Lung	lung
15	chr14:24861400-24863800	Enhancers	Fetal Lung	lung
16	chr14:24861800-24864600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:24861800-24866800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr14:24862000-24864800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:24862000-24867600	Weak transcription	Small Intestine	intestine
20	chr14:24862000-24867600	Weak transcription	A549	lung
21	chr14:24862200-24864800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:24862200-24864800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:24862200-24864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:24862200-24865000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:24862200-24865000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:24862200-24865200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:24862200-24865200	Weak transcription	Stomach Mucosa	stomach
28	chr14:24862200-24865400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:24862200-24865400	Weak transcription	NHDF-Ad	bronchial
30	chr14:24862200-24865800	Weak transcription	K562	blood
31	chr14:24862200-24866600	Weak transcription	Fetal Kidney	kidney
32	chr14:24862200-24866800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:24862200-24867000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:24862200-24867000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:24862200-24867200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:24862400-24864600	Weak transcription	NHEK	skin
37	chr14:24862400-24864800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr14:24862400-24864800	Weak transcription	Placenta	Placenta
39	chr14:24862400-24864800	Weak transcription	HMEC	breast
40	chr14:24862400-24865400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:24862400-24866800	Weak transcription	Fetal Intestine Large	intestine
42	chr14:24862400-24867000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr14:24862400-24867000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr14:24862400-24867200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:24862400-24867200	Weak transcription	HUVEC	blood vessel
46	chr14:24862400-24867800	Weak transcription	Osteobl	bone
47	chr14:24862600-24867000	Weak transcription	Fetal Brain Female	brain
48	chr14:24863200-24863800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:24863200-24865800	Enhancers	Primary hematopoietic stem cells	blood
50	chr14:24863200-24866600	Weak transcription	Fetal Intestine Small	intestine

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