Variant report

Variant	rs60362659
Chromosome Location	chr14:55240875-55240876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:305)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:55240860-55241010	MCF-7	breast:	n/a	n/a
2	CTCFL	chr14:55240790-55240928	K562	blood:	n/a	n/a
3	CTCF	chr14:55240704-55241014	T-47D	breast:	n/a	n/a
4	CTCF	chr14:55240643-55241116	K562	blood:	n/a	n/a
5	SMC3	chr14:55239780-55241000	Hela-S3	cervix:	n/a	chr14:55240117-55240131
6	CTCF	chr14:55240732-55241103	Spleen_OC	spleen:	n/a	n/a
7	CTCF	chr14:55240840-55240990	BJ	skin:	n/a	n/a
8	YY1	chr14:55240722-55241004	GM12878	blood:	n/a	n/a
9	CTCF	chr14:55240800-55240950	GM12864	blood:	n/a	n/a
10	CTCF	chr14:55240767-55241032	GM20000	blood:	n/a	n/a
11	MAX	chr14:55239941-55241004	K562	blood:	n/a	n/a
12	TCF7L2	chr14:55239911-55241118	HCT-116	colon:	n/a	n/a
13	CTCF	chr14:55240820-55240970	HCM	heart:	n/a	n/a
14	CTCF	chr14:55240820-55240970	HMEC	breast:	n/a	n/a
15	POLR2A	chr14:55240821-55241034	HUVEC	blood vessel:	n/a	n/a
16	CEBPB	chr14:55239891-55240993	IMR90	lung:	n/a	n/a
17	CTCF	chr14:55240820-55240970	AG04449	skin:	n/a	n/a
18	CTCF	chr14:55240860-55241010	HPF	lung:	n/a	n/a
19	NFIC	chr14:55239714-55241086	SK-N-SH	brain:	n/a	n/a
20	MXI1	chr14:55239605-55241399	IMR90	lung:	n/a	n/a
21	YY1	chr14:55240751-55241031	GM12891	blood:	n/a	n/a
22	CTCF	chr14:55240734-55241063	K562	blood:	n/a	n/a
23	CTCF	chr14:55240776-55241044	GM13976	blood:	n/a	n/a
24	RELA	chr14:55240711-55241047	GM19099	blood:	n/a	n/a
25	CTCF	chr14:55240765-55241051	Pancreas_OC	pancreas:	n/a	n/a
26	CTCF	chr14:55240732-55241057	MCF-7	breast:	n/a	n/a
27	YY1	chr14:55240676-55241016	GM12878	blood:	n/a	n/a
28	CTCF	chr14:55240840-55240990	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr14:55240612-55241122	IMR90	lung:	n/a	n/a
30	CBX3	chr14:55240643-55241045	K562	blood:	n/a	n/a
31	ELF1	chr14:55239749-55241163	MCF-7	breast:	n/a	n/a
32	CCNT2	chr14:55240759-55241015	K562	blood:	n/a	n/a
33	CTCF	chr14:55240860-55241010	BE2_C	brain:	n/a	n/a
34	CTCF	chr14:55239556-55241277	HCT-116	colon:	n/a	chr14:55240110-55240131 chr14:55240115-55240133
35	ZNF143	chr14:55240732-55241096	K562	blood:	n/a	n/a
36	TCF12	chr14:55239576-55241014	A549	lung:	n/a	n/a
37	CTCF	chr14:55240686-55241081	K562	blood:	n/a	n/a
38	BCLAF1	chr14:55240679-55241095	GM12878	blood:	n/a	n/a
39	TCF12	chr14:55239652-55241135	SK-N-SH	brain:	n/a	n/a
40	CTCF	chr14:55240820-55240970	GM12872	blood:	n/a	n/a
41	MAX	chr14:55240724-55240958	K562	blood:	n/a	n/a
42	CTCF	chr14:55240660-55241130	HepG2	liver:	n/a	n/a
43	POLR2A	chr14:55240704-55240997	K562	blood:	n/a	n/a
44	CTCF	chr14:55240800-55240950	HCT-116	colon:	n/a	n/a
45	RAD21	chr14:55239481-55241274	SK-N-SH	brain:	n/a	chr14:55240119-55240128 chr14:55240113-55240132
46	CTCF	chr14:55240840-55240990	HVMF	connective:	n/a	n/a
47	SP1	chr14:55239673-55241076	A549	lung:	n/a	chr14:55239956-55239968 chr14:55239956-55239968 chr14:55239957-55239971 chr14:55239958-55239967 chr14:55239957-55239966 chr14:55239957-55239967
48	HMGN3	chr14:55240730-55240930	K562	blood:	n/a	n/a
49	CTCF	chr14:55240840-55240990	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr14:55240800-55240950	GM12870	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55220923..55225208-chr14:55233261..55241446,8	K562	blood:
2	chr14:55029820..55038276-chr14:55237466..55243367,18	K562	blood:
3	chr14:55036283..55039023-chr14:55239014..55241127,2	MCF-7	breast:
4	chr14:54976366..54976881-chr14:55240004..55240949,2	MCF-7	breast:
5	chr14:55030472..55031302-chr14:55240871..55241415,2	MCF-7	breast:
6	chr14:55033642..55034158-chr14:55240066..55241038,2	K562	blood:
7	chr14:55030384..55032105-chr14:55239605..55241295,13	K562	blood:
8	chr14:55131231..55133350-chr14:55238338..55241273,2	K562	blood:
9	chr14:55118792..55121300-chr14:55238690..55241615,2	MCF-7	breast:
10	chr14:55029820..55035664-chr14:55234750..55242867,15	K562	blood:
11	chr14:55030996..55036222-chr14:55238607..55244336,16	MCF-7	breast:
12	chr14:55030921..55031495-chr14:55240166..55241049,2	MCF-7	breast:
13	chr14:55033517..55034210-chr14:55240461..55241139,2	MCF-7	breast:
14	chr14:55191841..55194822-chr14:55240069..55241677,2	K562	blood:
15	chr14:55030476..55035831-chr14:55237622..55244655,19	MCF-7	breast:
16	chr14:55240470..55241400-chr14:55272220..55273092,3	MCF-7	breast:
17	chr14:55239165..55241515-chr14:55242666..55246645,3	MCF-7	breast:
18	chr14:55222236..55224976-chr14:55238757..55241397,2	K562	blood:
19	chr14:55201940..55205634-chr14:55237647..55241617,3	MCF-7	breast:
20	chr14:55030306..55032583-chr14:55239578..55241311,21	MCF-7	breast:
21	chr14:55039042..55042077-chr14:55236554..55240895,3	K562	blood:

No data

Variant related genes	Relation type
SAMD4A	TF binding region
ENSG00000020577	Chromatin interaction
ENSG00000100532	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10144632	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17127934	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17737822	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72713436	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9323270	0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55231800-55245400	Weak transcription	Pancreas	Pancrea
2	chr14:55236600-55241800	Enhancers	Placenta	Placenta
3	chr14:55236600-55245400	Genic enhancers	Fetal Muscle Leg	muscle
4	chr14:55237000-55241600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:55237200-55242800	Weak transcription	Fetal Brain Female	brain
6	chr14:55237600-55241800	Weak transcription	Brain Germinal Matrix	brain
7	chr14:55237600-55261200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:55237800-55241200	Genic enhancers	Fetal Stomach	stomach
9	chr14:55238000-55241000	Enhancers	Adipose Nuclei	Adipose
10	chr14:55238000-55241200	Enhancers	Fetal Intestine Large	intestine
11	chr14:55238200-55245200	Enhancers	Fetal Heart	heart
12	chr14:55238400-55241200	Enhancers	Liver	Liver
13	chr14:55238800-55241200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr14:55239000-55241200	Enhancers	Stomach Mucosa	stomach
15	chr14:55239000-55244000	Enhancers	HMEC	breast
16	chr14:55239200-55241000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr14:55239200-55241600	Weak transcription	Psoas Muscle	Psoas
18	chr14:55239400-55241000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr14:55239400-55241200	Enhancers	Fetal Intestine Small	intestine
20	chr14:55239400-55241400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:55239600-55241000	Enhancers	Primary B cells from cord blood	blood
22	chr14:55239600-55241000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr14:55239600-55241800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr14:55239600-55243200	Enhancers	Primary B cells from peripheral blood	blood
25	chr14:55239800-55241000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:55239800-55241000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:55239800-55241000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr14:55239800-55241000	Enhancers	Right Ventricle	heart
29	chr14:55239800-55241000	Enhancers	Spleen	Spleen
30	chr14:55239800-55241200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:55240000-55241000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:55240000-55241200	Enhancers	HUVEC	blood vessel
33	chr14:55240000-55243200	Enhancers	NH-A	brain
34	chr14:55240000-55244000	Genic enhancers	NHEK	skin
35	chr14:55240000-55244200	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr14:55240000-55250400	Strong transcription	HepG2	liver
37	chr14:55240200-55241000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr14:55240200-55241000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:55240200-55241000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:55240200-55241000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:55240200-55241000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:55240200-55241000	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr14:55240200-55241000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr14:55240200-55241000	Enhancers	Right Atrium	heart
45	chr14:55240200-55244400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:55240200-55244400	Genic enhancers	NHLF	lung
47	chr14:55240400-55241000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:55240400-55241200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:55240400-55241200	Enhancers	Fetal Kidney	kidney
50	chr14:55240400-55241200	Enhancers	K562	blood

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