Variant report

Variant	rs3759575
Chromosome Location	chr14:103850424-103850425
allele	A/G
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	CHD1	chr14:103850365-103853884	IMR90	lung:	n/a	chr14:103852260-103852267
2	ELF1	chr14:103850423-103852133	MCF-7	breast:	n/a	chr14:103851786-103851795 chr14:103851781-103851793 chr14:103851704-103851713 chr14:103851967-103851976 chr14:103851963-103851972

No.	Distal block	Cell Line	Cell type
1	chr14:103794753..103806137-chr14:103849038..103864103,36	MCF-7	breast:
2	chr14:103799041..103818802-chr14:103836567..103862153,82	K562	blood:
3	chr14:103827117..103828725-chr14:103849989..103851539,2	K562	blood:
4	chr14:103797262..103804754-chr14:103849003..103864058,49	MCF-7	breast:
5	chr14:103848958..103850556-chr14:103852445..103854637,3	MCF-7	breast:
6	chr14:103798959..103802101-chr14:103850214..103852987,6	K562	blood:
7	chr14:103843587..103846122-chr14:103847414..103850857,4	K562	blood:

Variant related genes	Relation type
MARK3	TF binding region
ENSG00000075413	Chromatin interaction
ENSG00000272533	Chromatin interaction
ENSG00000259775	Chromatin interaction
ENSG00000100664	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12431617	0.92[ASN][1000 genomes]
rs12436759	0.92[ASN][1000 genomes]
rs12436956	0.95[ASN][1000 genomes]
rs17841064	0.85[ASN][1000 genomes]
rs2273701	0.80[ASN][1000 genomes]
rs34251103	0.92[ASN][1000 genomes]
rs34411783	0.85[ASN][1000 genomes]
rs35233301	0.86[ASN][1000 genomes]
rs35410438	0.86[ASN][1000 genomes]
rs3759577	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4243738	0.83[ASN][1000 genomes]
rs4243739	0.83[ASN][1000 genomes]
rs4900573	0.82[ASN][1000 genomes]
rs4906320	0.90[ASN][1000 genomes]
rs4906322	0.80[ASN][1000 genomes]
rs4906324	0.80[ASN][1000 genomes]
rs58153827	0.81[EUR][1000 genomes]
rs60235428	0.83[ASN][1000 genomes]
rs6575982	0.92[ASN][1000 genomes]
rs6575985	0.86[ASN][1000 genomes]
rs6575991	0.81[ASN][1000 genomes]
rs7140647	0.85[ASN][1000 genomes]
rs7144010	0.92[ASN][1000 genomes]
rs7145753	0.84[ASN][1000 genomes]
rs7146215	0.80[ASN][1000 genomes]
rs7149767	0.92[ASN][1000 genomes]
rs7156036	0.80[ASN][1000 genomes]
rs7156471	0.89[ASN][1000 genomes]
rs7159668	0.84[ASN][1000 genomes]
rs7160888	0.87[ASN][1000 genomes]
rs8003740	0.80[ASN][1000 genomes]
rs8016676	0.82[ASN][1000 genomes]
rs8018400	0.85[ASN][1000 genomes]
rs975892	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042714	chr14:103085298-103860730	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
3	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
4	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv542200	chr14:103838939-103868007	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 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	chr14:103839200-103850800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:103839600-103850600	Weak transcription	Esophagus	oesophagus
3	chr14:103845400-103851000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:103845600-103850800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:103846200-103850600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr14:103846400-103850600	Weak transcription	Gastric	stomach
7	chr14:103847200-103850600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:103847800-103850600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:103848200-103850600	Enhancers	HMEC	breast
10	chr14:103848600-103850600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:103849200-103850600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:103849200-103850600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:103849200-103850600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:103849200-103850600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:103849200-103850600	Weak transcription	A549	lung
16	chr14:103849200-103850600	Weak transcription	GM12878-XiMat	blood
17	chr14:103849200-103850600	Weak transcription	HSMM	muscle
18	chr14:103849200-103850600	Weak transcription	Osteobl	bone
19	chr14:103849200-103850800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:103849200-103850800	Weak transcription	Hela-S3	cervix
21	chr14:103849400-103850600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:103849400-103850600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:103849400-103850600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:103849400-103850600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr14:103849400-103850600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:103849400-103850600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr14:103849400-103850600	Weak transcription	K562	blood
28	chr14:103849400-103850600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr14:103849400-103850600	Weak transcription	NH-A	brain
30	chr14:103849400-103850600	Weak transcription	NHEK	skin
31	chr14:103849400-103850800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:103849400-103850800	Weak transcription	HSMMtube	muscle
33	chr14:103849600-103850600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:103849600-103850800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:103849800-103850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:103850000-103850600	Weak transcription	Fetal Kidney	kidney
37	chr14:103850200-103850600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:103850400-103850600	Active TSS	H9 Cell Line	embryonic stem cell
39	chr14:103850400-103850600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:103850400-103850600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr14:103850400-103850600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:103850400-103850600	Enhancers	Brain Angular Gyrus	brain
43	chr14:103850400-103850600	Enhancers	Brain Anterior Caudate	brain
44	chr14:103850400-103850600	Enhancers	Brain Hippocampus Middle	brain
45	chr14:103850400-103850600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr14:103850400-103850600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:103850400-103850600	Active TSS	Duodenum Mucosa	Duodenum
48	chr14:103850400-103850600	Enhancers	Stomach Smooth Muscle	stomach
49	chr14:103850400-103850600	Enhancers	NHDF-Ad	bronchial
50	chr14:103850400-103850600	Enhancers	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links