Variant report

Variant	rs59324334
Chromosome Location	chr1:113067245-113067246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113066283..113068040-chr1:113069058..113071239,2	MCF-7	breast:
2	chr1:113061676..113064298-chr1:113066222..113068945,2	K562	blood:
3	chr1:113056617..113059195-chr1:113065437..113067777,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000007341	Chromatin interaction
ENSG00000134245	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10399919	0.85[AFR][1000 genomes]
rs11102490	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11102492	1.00[AMR][1000 genomes]
rs11102500	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11102511	0.82[AFR][1000 genomes]
rs12060267	0.95[AFR][1000 genomes]
rs12069022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12069740	0.95[AFR][1000 genomes]
rs12073750	0.88[AFR][1000 genomes]
rs12077330	0.85[AFR][1000 genomes]
rs12080006	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12082350	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12087862	0.85[AFR][1000 genomes]
rs12091635	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12094504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030446	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030451	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030475	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030592	0.85[AFR][1000 genomes]
rs58634778	0.85[AFR][1000 genomes]
rs72982599	0.81[AFR][1000 genomes]
rs72984503	0.85[AFR][1000 genomes]
rs72993070	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72993072	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113052000-113082600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:113052200-113067600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:113052200-113093200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:113055800-113067600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:113055800-113085200	Weak transcription	Thymus	Thymus
6	chr1:113056000-113067600	Weak transcription	HUVEC	blood vessel
7	chr1:113057800-113067600	Weak transcription	Fetal Intestine Large	intestine
8	chr1:113057800-113069600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:113058200-113067400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:113058400-113069600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:113058400-113086600	Weak transcription	A549	lung
12	chr1:113058600-113067400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:113058600-113069400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:113058800-113119400	Weak transcription	HepG2	liver
15	chr1:113059200-113067600	Weak transcription	Primary T cells from cord blood	blood
16	chr1:113059200-113071600	Weak transcription	Hela-S3	cervix
17	chr1:113059600-113069600	Weak transcription	Spleen	Spleen
18	chr1:113060200-113069600	Weak transcription	Aorta	Aorta
19	chr1:113060200-113132400	Weak transcription	Pancreas	Pancrea
20	chr1:113060400-113067400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:113060400-113070400	Weak transcription	HMEC	breast
22	chr1:113060800-113067600	Weak transcription	Brain Anterior Caudate	brain
23	chr1:113061000-113067600	Weak transcription	Esophagus	oesophagus
24	chr1:113061200-113072200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:113061400-113081200	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:113062400-113117400	Weak transcription	Psoas Muscle	Psoas
27	chr1:113062800-113067400	Enhancers	HSMM	muscle
28	chr1:113063400-113092400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:113063800-113067600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:113064000-113067400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:113064400-113068600	Enhancers	Osteobl	bone
32	chr1:113064400-113132200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:113064600-113067600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:113064600-113071000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:113064800-113067800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:113064800-113067800	Enhancers	NHDF-Ad	bronchial
37	chr1:113064800-113068000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:113064800-113068000	Enhancers	HSMMtube	muscle
39	chr1:113065000-113092400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:113065200-113067600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:113065200-113068200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:113065200-113114800	Weak transcription	Small Intestine	intestine
43	chr1:113065400-113067600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:113065400-113068600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:113065400-113069800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr1:113065400-113114600	Weak transcription	Fetal Brain Male	brain
47	chr1:113065600-113067600	Weak transcription	Lung	lung
48	chr1:113065600-113068400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:113065600-113068800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr1:113065600-113070200	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links