Variant report

Variant	rs10782498
Chromosome Location	chr14:105949586-105949587
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:105946245-105949689	HUVEC	blood vessel:	n/a	n/a
2	TCF12	chr14:105949268-105950164	ECC-1	luminal epithelium:	n/a	chr14:105949999-105950009 chr14:105949958-105949968
3	POLR2A	chr14:105949490-105949590	MCF-7	breast:	n/a	n/a
4	POLR2A	chr14:105947064-105950063	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:105949329-105950431	MCF-7	breast:	n/a	n/a
6	MAX	chr14:105949499-105950327	MCF-7	breast:	n/a	chr14:105949871-105949881
7	POLR2A	chr14:105949556-105949591	ProgFib	skin:	n/a	n/a
8	ELF1	chr14:105946015-105950277	MCF-7	breast:	n/a	n/a
9	ZBTB7A	chr14:105944229-105950591	ECC-1	luminal epithelium:	n/a	chr14:105944382-105944391
10	POLR2A	chr14:105947051-105950101	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr14:105949513-105950752	ECC-1	luminal epithelium:	n/a	n/a
12	EP300	chr14:105945971-105950322	ECC-1	luminal epithelium:	n/a	chr14:105949647-105949663 chr14:105948049-105948058
13	ZBTB7A	chr14:105945602-105950346	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr14:105945578-105951699	ECC-1	luminal epithelium:	n/a	n/a
15	TCF12	chr14:105949496-105950194	ECC-1	luminal epithelium:	n/a	chr14:105949999-105950009 chr14:105949958-105949968
16	POLR2A	chr14:105949208-105949913	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr14:105949440-105949590	SAEC	small airway:	n/a	chr14:105949551-105949564
18	POLR2A	chr14:105947042-105949831	IMR90	lung:	n/a	n/a
19	POLR2A	chr14:105945607-105950094	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr14:105949361-105949849	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:105887779..105891496-chr14:105947005..105949975,3	MCF-7	breast:
2	chr14:105922914..105924909-chr14:105948447..105949990,2	K562	blood:
3	chr14:105883580..105888149-chr14:105947638..105952467,6	MCF-7	breast:
4	chr14:105945980..105950779-chr14:105991667..105994836,5	K562	blood:
5	chr14:105932715..105935699-chr14:105947467..105949980,2	K562	blood:
6	chr14:105945919..105949902-chr14:105993265..105997331,11	MCF-7	breast:
7	chr14:105862874..105866826-chr14:105946373..105950090,5	K562	blood:
8	chr14:105932715..105935765-chr14:105945962..105949980,4	K562	blood:
9	chr14:105862539..105866268-chr14:105946890..105950237,5	MCF-7	breast:
10	chr12:46659494..46662486-chr14:105949390..105951277,2	MCF-7	breast:
11	chr14:105902283..105908432-chr14:105944817..105951373,9	MCF-7	breast:
12	chr14:105905481..105908435-chr14:105945567..105949931,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257341	TF binding region
CRIP1	TF binding region
ENSG00000226174	Chromatin interaction
ENSG00000251602	Chromatin interaction
ENSG00000184986	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000111371	Chromatin interaction

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

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

rs_ID	r²[population]
rs10138891	0.82[AFR][1000 genomes]
rs11160845	0.82[AFR][1000 genomes]
rs4983422	0.82[AFR][1000 genomes]
rs4983423	0.82[AFR][1000 genomes]
rs7140395	0.81[AFR][1000 genomes]
rs7158977	0.81[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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105946600-105951200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:105946800-105955200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:105947000-105951200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:105947000-105952400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:105947000-105955200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:105947200-105953400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr14:105947400-105953600	Enhancers	Lung	lung
8	chr14:105947600-105950600	Enhancers	Small Intestine	intestine
9	chr14:105948000-105949600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:105948000-105950400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:105948000-105951000	Enhancers	HMEC	breast
12	chr14:105948000-105951200	Enhancers	Fetal Lung	lung
13	chr14:105948000-105951400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr14:105948000-105951600	Enhancers	HSMM	muscle
15	chr14:105948000-105952400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr14:105948000-105952600	Enhancers	Primary B cells from peripheral blood	blood
17	chr14:105948000-105952800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:105948000-105953000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr14:105948000-105953000	Bivalent Enhancer	Fetal Thymus	thymus
20	chr14:105948000-105953200	Enhancers	Left Ventricle	heart
21	chr14:105948000-105953200	Enhancers	Right Ventricle	heart
22	chr14:105948000-105953400	Enhancers	Esophagus	oesophagus
23	chr14:105948000-105954200	Enhancers	Fetal Heart	heart
24	chr14:105948000-105954400	Enhancers	Spleen	Spleen
25	chr14:105948200-105949600	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr14:105948200-105950000	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr14:105948200-105952800	Enhancers	Right Atrium	heart
28	chr14:105948400-105949600	Enhancers	Aorta	Aorta
29	chr14:105948400-105949800	Enhancers	Primary hematopoietic stem cells	blood
30	chr14:105948400-105950200	Enhancers	Pancreas	Pancrea
31	chr14:105948400-105951400	Enhancers	Fetal Intestine Large	intestine
32	chr14:105948400-105952400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr14:105948400-105952400	Enhancers	Fetal Intestine Small	intestine
34	chr14:105948400-105953000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr14:105948400-105953200	Bivalent Enhancer	Fetal Stomach	stomach
36	chr14:105948400-105953600	Enhancers	Primary B cells from cord blood	blood
37	chr14:105948600-105952600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr14:105948600-105952800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr14:105948800-105949600	Enhancers	Brain Substantia Nigra	brain
40	chr14:105948800-105950000	Enhancers	Brain Anterior Caudate	brain
41	chr14:105948800-105950000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:105948800-105950200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:105948800-105950400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:105948800-105950400	Enhancers	NHEK	skin
45	chr14:105948800-105950600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:105948800-105950600	Enhancers	Gastric	stomach
47	chr14:105948800-105950600	Enhancers	HSMMtube	muscle
48	chr14:105948800-105951400	Enhancers	Fetal Muscle Leg	muscle
49	chr14:105948800-105951800	Enhancers	Placenta	Placenta
50	chr14:105948800-105952000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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