Variant report

Variant	rs74043916
Chromosome Location	chr14:31776746-31776747
allele	C/T
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	chr14:31776660-31776810	HCT-116	colon:	n/a	n/a
2	RAD21	chr14:31776490-31776782	HepG2	liver:	n/a	chr14:31776665-31776675
3	RAD21	chr14:31776478-31776898	MCF-7	breast:	n/a	chr14:31776665-31776675

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31677123..31678687-chr14:31776671..31778228,2	MCF-7	breast:
2	chr14:31674533..31677415-chr14:31773657..31777062,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263784	TF binding region
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs28757677	1.00[AFR][1000 genomes]
rs56116177	1.00[AFR][1000 genomes]
rs57193303	1.00[AFR][1000 genomes]
rs58506726	1.00[AFR][1000 genomes]
rs59267250	1.00[AFR][1000 genomes]
rs59745890	1.00[AFR][1000 genomes]
rs60729654	1.00[AFR][1000 genomes]
rs74040821	1.00[AFR][1000 genomes]
rs74040828	1.00[AFR][1000 genomes]
rs74043919	1.00[AFR][1000 genomes]
rs74043921	1.00[AFR][1000 genomes]
rs74043922	1.00[AFR][1000 genomes]
rs74043926	1.00[AFR][1000 genomes]
rs74043930	1.00[AFR][1000 genomes]
rs74043934	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31749400-31789000	Weak transcription	Psoas Muscle	Psoas
2	chr14:31760600-31779400	Weak transcription	Pancreas	Pancrea
3	chr14:31760800-31781000	Weak transcription	Fetal Kidney	kidney
4	chr14:31761600-31794400	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:31761600-31794400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr14:31762200-31780600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:31762200-31785200	Weak transcription	HMEC	breast
8	chr14:31762400-31794800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr14:31762600-31779800	Weak transcription	Esophagus	oesophagus
10	chr14:31762800-31783000	Weak transcription	Fetal Thymus	thymus
11	chr14:31762800-31811800	Weak transcription	Fetal Heart	heart
12	chr14:31763200-31783400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:31763400-31780600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:31763400-31781800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:31763400-31784600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:31763600-31784600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:31764800-31784200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:31766800-31778200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:31766800-31786800	Weak transcription	Small Intestine	intestine
20	chr14:31767400-31781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:31767600-31778400	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:31767600-31790400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:31767800-31778600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:31767800-31783000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:31767800-31783800	Weak transcription	K562	blood
26	chr14:31767800-31789400	Strong transcription	Adipose Nuclei	Adipose
27	chr14:31767800-31795200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:31768000-31798600	Weak transcription	Brain Germinal Matrix	brain
29	chr14:31768000-31805800	Weak transcription	NHEK	skin
30	chr14:31768200-31783800	Strong transcription	Placenta	Placenta
31	chr14:31768200-31799200	Weak transcription	Colonic Mucosa	Colon
32	chr14:31768400-31779600	Strong transcription	Osteobl	bone
33	chr14:31768400-31798600	Weak transcription	Fetal Brain Female	brain
34	chr14:31769000-31777200	Strong transcription	Left Ventricle	heart
35	chr14:31769000-31793800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:31769200-31777200	Strong transcription	HepG2	liver
37	chr14:31769200-31777400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:31769200-31778400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:31769200-31778400	Strong transcription	HSMM	muscle
40	chr14:31769200-31782600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr14:31769200-31786200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr14:31769400-31777000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:31769400-31777000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:31769400-31777000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:31769400-31778400	Strong transcription	Fetal Muscle Leg	muscle
46	chr14:31769800-31798600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:31770000-31776800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:31770000-31781800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr14:31770000-31789400	Weak transcription	Fetal Brain Male	brain
50	chr14:31770000-31798200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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