Variant report

Variant	rs4924683
Chromosome Location	chr15:42782180-42782181
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42781216..42785097-chr15:42786050..42789793,8	K562	blood:
2	chr15:42781216..42785618-chr15:42786050..42793334,15	K562	blood:
3	chr15:42781833..42785082-chr15:42786422..42789177,6	MCF-7	breast:
4	chr15:42564636..42566534-chr15:42781561..42783413,2	K562	blood:
5	chr15:42781742..42786032-chr15:42840388..42842565,4	K562	blood:

Variant related genes	Relation type
ENSG00000180979	Chromatin interaction
ENSG00000092531	Chromatin interaction
ENSG00000214013	Chromatin interaction
ENSG00000103978	Chromatin interaction
ENSG00000137814	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12324717	1.00[ASN][1000 genomes]
rs17709377	0.82[EUR][1000 genomes]
rs59697584	0.84[EUR][1000 genomes]
rs73402783	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4924683	CEP27	Cis_1M	lymphoblastoid	RTeQTL
rs4924683	LRRC57	cis	Thyroid	GTEx
rs4924683	LRRC57	cis	Stomach	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42744200-42782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr15:42750000-42782600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:42750200-42782400	Weak transcription	Aorta	Aorta
4	chr15:42750800-42782400	Weak transcription	Ovary	ovary
5	chr15:42751000-42782400	Weak transcription	Fetal Lung	lung
6	chr15:42754600-42782400	Weak transcription	HSMMtube	muscle
7	chr15:42756000-42782600	Weak transcription	Esophagus	oesophagus
8	chr15:42756200-42782400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:42757800-42782600	Weak transcription	Gastric	stomach
10	chr15:42758000-42782400	Weak transcription	NHLF	lung
11	chr15:42758400-42782200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr15:42758400-42782200	Weak transcription	Fetal Brain Female	brain
13	chr15:42758400-42782200	Weak transcription	Thymus	Thymus
14	chr15:42759800-42782200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:42761800-42782400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr15:42763400-42782400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr15:42763600-42782200	Weak transcription	HMEC	breast
18	chr15:42763800-42782400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:42763800-42782400	Weak transcription	Fetal Intestine Large	intestine
20	chr15:42763800-42782400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr15:42764200-42782400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr15:42764600-42782200	Weak transcription	HUVEC	blood vessel
23	chr15:42764800-42782200	Weak transcription	HSMM	muscle
24	chr15:42765000-42782400	Weak transcription	Osteobl	bone
25	chr15:42767000-42782200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:42767400-42782200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:42770800-42782400	Weak transcription	Fetal Kidney	kidney
28	chr15:42775600-42782200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:42775600-42782800	Weak transcription	Spleen	Spleen
30	chr15:42775800-42782400	Weak transcription	NHDF-Ad	bronchial
31	chr15:42777200-42782400	Weak transcription	Psoas Muscle	Psoas
32	chr15:42777200-42782400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr15:42777400-42782200	Weak transcription	Fetal Intestine Small	intestine
34	chr15:42777400-42782600	Weak transcription	Pancreas	Pancrea
35	chr15:42777800-42782200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr15:42777800-42782400	Weak transcription	Brain Angular Gyrus	brain
37	chr15:42778600-42782400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr15:42779800-42782200	Enhancers	HepG2	liver
39	chr15:42780000-42782200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr15:42780200-42782400	Enhancers	Fetal Heart	heart
41	chr15:42780600-42782200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:42780600-42782200	Enhancers	NHEK	skin
43	chr15:42780600-42782400	Enhancers	Primary B cells from peripheral blood	blood
44	chr15:42780600-42782400	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr15:42780600-42782600	Weak transcription	Small Intestine	intestine
46	chr15:42780800-42782200	Enhancers	Primary B cells from cord blood	blood
47	chr15:42780800-42782400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr15:42780800-42782400	Weak transcription	NH-A	brain
49	chr15:42781000-42782200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:42781000-42782400	Enhancers	Primary T cells fromperipheralblood	blood

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