Variant report

Variant	rs749395
Chromosome Location	chr14:70344774-70344775
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	RCOR1	chr14:70343565-70344900	IMR90	lung:	n/a	n/a
2	RAD21	chr14:70344011-70344866	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr14:70343961-70345021	A549	lung:	n/a	n/a
4	KAP1	chr14:70344249-70344840	U2OS	brain:	n/a	chr14:70344791-70344799
5	SMC3	chr14:70344026-70344805	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr14:70344005-70345094	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:70343964..70344902-chr14:70495472..70496137,2	MCF-7	breast:
2	chr14:70343652..70344929-chr14:70494172..70494990,6	MCF-7	breast:
3	chr14:70343986..70344899-chr14:70479582..70480411,5	MCF-7	breast:
4	chr14:70344014..70344863-chr14:70479653..70480265,4	MCF-7	breast:

Variant related genes	Relation type
SMOC1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10138095	0.85[JPT][hapmap]
rs10162517	0.88[ASN][1000 genomes]
rs11158817	0.85[ASN][1000 genomes]
rs12431570	0.88[ASN][1000 genomes]
rs12435823	0.88[ASN][1000 genomes]
rs1318485	0.87[ASN][1000 genomes]
rs1952198	0.88[ASN][1000 genomes]
rs2332175	0.83[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap]
rs4899317	0.87[ASN][1000 genomes]
rs4899318	0.87[ASN][1000 genomes]
rs4899319	0.85[ASN][1000 genomes]
rs4902758	0.85[ASN][1000 genomes]
rs4902759	0.86[ASN][1000 genomes]
rs4902760	0.84[CHB][hapmap];0.85[ASN][1000 genomes]
rs749397	0.92[CHB][hapmap]
rs9323530	0.87[ASN][1000 genomes]
rs958056	0.87[ASN][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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70341400-70346200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:70342800-70345800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:70343000-70344800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:70343000-70344800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:70343200-70344800	Enhancers	Osteobl	bone
6	chr14:70343200-70345000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr14:70343200-70345400	Enhancers	Placenta	Placenta
8	chr14:70343400-70345000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:70343400-70345400	Enhancers	Hela-S3	cervix
10	chr14:70343600-70345400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:70343600-70345600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr14:70343800-70344800	Enhancers	Lung	lung
13	chr14:70343800-70345000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:70343800-70345800	Enhancers	Spleen	Spleen
15	chr14:70344000-70345600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:70344000-70345800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:70344000-70345800	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr14:70344000-70346000	Weak transcription	HMEC	breast
19	chr14:70344200-70345600	Enhancers	Liver	Liver
20	chr14:70344200-70345600	Weak transcription	Pancreas	Pancrea
21	chr14:70344200-70345800	Bivalent Enhancer	Fetal Stomach	stomach
22	chr14:70344200-70345800	Weak transcription	Right Atrium	heart
23	chr14:70344400-70345400	Enhancers	Brain Germinal Matrix	brain
24	chr14:70344400-70345600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:70344400-70345600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:70344400-70345800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:70344400-70345800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr14:70344400-70345800	Enhancers	Brain Hippocampus Middle	brain
29	chr14:70344600-70344800	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr14:70344600-70344800	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr14:70344600-70344800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
32	chr14:70344600-70344800	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr14:70344600-70344800	Bivalent Enhancer	Fetal Intestine Large	intestine
34	chr14:70344600-70344800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr14:70344600-70344800	Bivalent/Poised TSS	Stomach Mucosa	stomach
36	chr14:70344600-70344800	Enhancers	A549	lung
37	chr14:70344600-70345600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:70344600-70345600	Flanking Active TSS	HepG2	liver
39	chr14:70344600-70346000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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