Variant report

Variant	rs9323270
Chromosome Location	chr14:55241049-55241050
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:55240643-55241116	K562	blood:	n/a	n/a
2	CTCF	chr14:55240732-55241103	Spleen_OC	spleen:	n/a	n/a
3	TCF7L2	chr14:55239911-55241118	HCT-116	colon:	n/a	n/a
4	NFIC	chr14:55239714-55241086	SK-N-SH	brain:	n/a	n/a
5	MXI1	chr14:55239605-55241399	IMR90	lung:	n/a	n/a
6	CTCF	chr14:55240734-55241063	K562	blood:	n/a	n/a
7	CTCF	chr14:55240765-55241051	Pancreas_OC	pancreas:	n/a	n/a
8	CTCF	chr14:55240732-55241057	MCF-7	breast:	n/a	n/a
9	CTCF	chr14:55240612-55241122	IMR90	lung:	n/a	n/a
10	ELF1	chr14:55239749-55241163	MCF-7	breast:	n/a	n/a
11	CTCF	chr14:55240920-55241070	AG04450	lung:	n/a	n/a
12	CTCF	chr14:55239556-55241277	HCT-116	colon:	n/a	chr14:55240110-55240131 chr14:55240115-55240133
13	ZNF143	chr14:55240732-55241096	K562	blood:	n/a	n/a
14	CTCF	chr14:55240686-55241081	K562	blood:	n/a	n/a
15	BCLAF1	chr14:55240679-55241095	GM12878	blood:	n/a	n/a
16	TCF12	chr14:55239652-55241135	SK-N-SH	brain:	n/a	n/a
17	CTCF	chr14:55240660-55241130	HepG2	liver:	n/a	n/a
18	RAD21	chr14:55239481-55241274	SK-N-SH	brain:	n/a	chr14:55240119-55240128 chr14:55240113-55240132
19	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
20	CTCF	chr14:55240766-55241073	Medullo	brain:	n/a	n/a
21	POLR2A	chr14:55238976-55241118	HUVEC	blood vessel:	n/a	n/a
22	JUND	chr14:55239700-55241176	HCT-116	colon:	n/a	n/a
23	JUN	chr14:55238373-55241145	K562	blood:	n/a	n/a
24	CTCF	chr14:55240747-55241057	LNCaP	prostate:	n/a	n/a
25	CTCF	chr14:55240900-55241050	HMEC	breast:	n/a	n/a
26	CTCF	chr14:55239396-55241330	SK-N-SH	brain:	n/a	chr14:55240110-55240131 chr14:55239478-55239488 chr14:55240115-55240133
27	JUND	chr14:55240794-55241068	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr14:55240736-55241060	A549	lung:	n/a	n/a
29	CTCF	chr14:55240900-55241050	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr14:55240748-55241052	Fibrobl	skin:	n/a	n/a
31	CTCF	chr14:55240683-55241103	K562	blood:	n/a	n/a
32	WRNIP1	chr14:55240607-55241058	GM12878	blood:	n/a	n/a
33	CTCF	chr14:55240764-55241054	LNCaP	prostate:	n/a	n/a
34	CREB1	chr14:55240731-55241102	A549	lung:	n/a	n/a
35	CTCF	chr14:55240734-55241077	GM12878	blood:	n/a	n/a
36	MAX	chr14:55239831-55241089	SK-N-SH	brain:	n/a	n/a
37	PAX5	chr14:55240631-55241070	GM12878	blood:	n/a	n/a
38	SP1	chr14:55239714-55241129	A549	lung:	n/a	chr14:55239956-55239968 chr14:55239956-55239968 chr14:55239957-55239971 chr14:55239958-55239967 chr14:55239957-55239966 chr14:55239957-55239967
39	CTCF	chr14:55240758-55241053	ProgFib	skin:	n/a	n/a
40	CTCF	chr14:55240785-55241083	ECC-1	luminal epithelium:	n/a	n/a
41	RAD21	chr14:55240681-55241075	SK-N-SH_RA	brain:	n/a	n/a
42	EP300	chr14:55239665-55241172	SK-N-SH	brain:	n/a	chr14:55239710-55239724 chr14:55240338-55240354
43	RAD21	chr14:55240624-55241136	ECC-1	luminal epithelium:	n/a	n/a
44	CTCF	chr14:55240645-55241124	A549	lung:	n/a	n/a
45	RCOR1	chr14:55239759-55241059	K562	blood:	n/a	n/a
46	CTCF	chr14:55240788-55241077	SK-N-SH_RA	brain:	n/a	n/a
47	RAD21	chr14:55240746-55241067	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr14:55240749-55241070	Gliobla	brain:	n/a	n/a
49	MYC	chr14:55239794-55241070	K562	blood:	n/a	n/a
50	RAD21	chr14:55239771-55241118	IMR90	lung:	n/a	chr14:55240119-55240128 chr14:55240113-55240132

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	chr14:55030472..55031302-chr14:55240871..55241415,2	MCF-7	breast:
5	chr14:55030384..55032105-chr14:55239605..55241295,13	K562	blood:
6	chr14:55131231..55133350-chr14:55238338..55241273,2	K562	blood:
7	chr14:55118792..55121300-chr14:55238690..55241615,2	MCF-7	breast:
8	chr14:55029820..55035664-chr14:55234750..55242867,15	K562	blood:
9	chr14:55030996..55036222-chr14:55238607..55244336,16	MCF-7	breast:
10	chr14:55030921..55031495-chr14:55240166..55241049,2	MCF-7	breast:
11	chr14:55033517..55034210-chr14:55240461..55241139,2	MCF-7	breast:
12	chr14:55191841..55194822-chr14:55240069..55241677,2	K562	blood:
13	chr14:55030476..55035831-chr14:55237622..55244655,19	MCF-7	breast:
14	chr14:55240470..55241400-chr14:55272220..55273092,3	MCF-7	breast:
15	chr14:55239165..55241515-chr14:55242666..55246645,3	MCF-7	breast:
16	chr14:55222236..55224976-chr14:55238757..55241397,2	K562	blood:
17	chr14:55201940..55205634-chr14:55237647..55241617,3	MCF-7	breast:
18	chr14:55030306..55032583-chr14:55239578..55241311,21	MCF-7	breast:

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

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10144632	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[ASN][1000 genomes]
rs17127934	0.97[ASN][1000 genomes]
rs17737822	0.99[ASN][1000 genomes]
rs60362659	0.99[ASN][1000 genomes]
rs72713436	0.89[ASN][1000 genomes]
rs9323271	0.96[YRI][hapmap];0.90[AFR][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:106 , 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	chr14:55238000-55241200	Enhancers	Fetal Intestine Large	intestine
10	chr14:55238200-55245200	Enhancers	Fetal Heart	heart
11	chr14:55238400-55241200	Enhancers	Liver	Liver
12	chr14:55238800-55241200	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr14:55239000-55241200	Enhancers	Stomach Mucosa	stomach
14	chr14:55239000-55244000	Enhancers	HMEC	breast
15	chr14:55239200-55241600	Weak transcription	Psoas Muscle	Psoas
16	chr14:55239400-55241200	Enhancers	Fetal Intestine Small	intestine
17	chr14:55239400-55241400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:55239600-55241800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr14:55239600-55243200	Enhancers	Primary B cells from peripheral blood	blood
20	chr14:55239800-55241200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:55240000-55241200	Enhancers	HUVEC	blood vessel
22	chr14:55240000-55243200	Enhancers	NH-A	brain
23	chr14:55240000-55244000	Genic enhancers	NHEK	skin
24	chr14:55240000-55244200	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr14:55240000-55250400	Strong transcription	HepG2	liver
26	chr14:55240200-55244400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:55240200-55244400	Genic enhancers	NHLF	lung
28	chr14:55240400-55241200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:55240400-55241200	Enhancers	Fetal Kidney	kidney
30	chr14:55240400-55241200	Enhancers	K562	blood
31	chr14:55240400-55241400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr14:55240400-55242600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:55240600-55241200	Enhancers	Brain Hippocampus Middle	brain
34	chr14:55240600-55241200	Enhancers	Rectal Smooth Muscle	rectum
35	chr14:55240600-55241200	Enhancers	Dnd41	blood
36	chr14:55240600-55241400	Genic enhancers	HSMM	muscle
37	chr14:55240600-55241600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr14:55240600-55241600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr14:55240600-55241800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:55240600-55242000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:55240600-55242800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:55240600-55243000	Weak transcription	Fetal Lung	lung
43	chr14:55240600-55243800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
44	chr14:55240600-55251200	Weak transcription	Gastric	stomach
45	chr14:55240600-55253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:55240600-55254800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:55240600-55257000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:55240800-55241200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr14:55240800-55241200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr14:55240800-55241200	Enhancers	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links