Variant report

Variant	rs57394214
Chromosome Location	chr5:126377286-126377287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:126376205..126378561-chr5:126406110..126410141,3	MCF-7	breast:
2	chr5:126365329..126367894-chr5:126376980..126379540,3	K562	blood:
3	chr5:126199073..126201681-chr5:126376638..126378571,2	K562	blood:
4	chr5:126373053..126375255-chr5:126375735..126378534,4	MCF-7	breast:
5	chr5:126367052..126370005-chr5:126376453..126379240,2	MCF-7	breast:
6	chr5:126368719..126372377-chr5:126376805..126380284,3	K562	blood:
7	chr5:126370445..126372377-chr5:126376805..126378615,2	K562	blood:
8	chr5:126373483..126375318-chr5:126376410..126378447,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164241	Chromatin interaction
ENSG00000173926	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11241915	1.00[ASN][1000 genomes]
rs17165220	1.00[ASN][1000 genomes]
rs17165223	0.95[ASN][1000 genomes]
rs17839706	1.00[ASN][1000 genomes]
rs2240529	0.89[ASN][1000 genomes]
rs2240530	0.81[ASN][1000 genomes]
rs55736801	1.00[ASN][1000 genomes]
rs55780389	0.89[ASN][1000 genomes]
rs55807699	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55887767	0.89[ASN][1000 genomes]
rs55926617	0.89[ASN][1000 genomes]
rs55958512	0.89[ASN][1000 genomes]
rs56102558	0.89[ASN][1000 genomes]
rs57273792	0.89[ASN][1000 genomes]
rs57448612	0.89[ASN][1000 genomes]
rs57496473	0.89[ASN][1000 genomes]
rs59022768	1.00[ASN][1000 genomes]
rs59255338	0.89[ASN][1000 genomes]
rs59584486	1.00[ASN][1000 genomes]
rs59722252	0.89[ASN][1000 genomes]
rs60381307	1.00[ASN][1000 genomes]
rs60503756	0.86[ASN][1000 genomes]
rs61137046	0.89[ASN][1000 genomes]
rs61563447	0.89[ASN][1000 genomes]
rs61563838	1.00[ASN][1000 genomes]
rs73783494	0.89[ASN][1000 genomes]
rs73783499	0.89[ASN][1000 genomes]
rs73783500	0.89[ASN][1000 genomes]
rs73783511	0.89[ASN][1000 genomes]
rs73783517	1.00[ASN][1000 genomes]
rs73783518	1.00[ASN][1000 genomes]
rs73783519	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783522	1.00[ASN][1000 genomes]
rs73786208	0.89[ASN][1000 genomes]
rs73786211	0.89[ASN][1000 genomes]
rs73786236	0.89[ASN][1000 genomes]
rs73786237	0.89[ASN][1000 genomes]
rs73786243	0.89[ASN][1000 genomes]
rs73786248	0.89[ASN][1000 genomes]
rs73786254	0.89[ASN][1000 genomes]
rs73786256	0.89[ASN][1000 genomes]
rs73786257	0.89[ASN][1000 genomes]
rs73786289	0.89[ASN][1000 genomes]
rs73786297	0.89[ASN][1000 genomes]
rs73786300	0.89[ASN][1000 genomes]
rs73786301	0.89[ASN][1000 genomes]
rs73786302	0.89[ASN][1000 genomes]
rs73787405	0.89[ASN][1000 genomes]
rs73787409	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126367600-126382000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:126367600-126391800	Weak transcription	GM12878-XiMat	blood
3	chr5:126368000-126387200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:126370200-126379000	Weak transcription	Primary T cells from cord blood	blood
5	chr5:126372200-126391600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:126374400-126385000	Weak transcription	Small Intestine	intestine
7	chr5:126374600-126408400	Weak transcription	Psoas Muscle	Psoas
8	chr5:126375600-126377400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr5:126375800-126377400	Enhancers	Fetal Intestine Large	intestine
10	chr5:126375800-126377600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:126375800-126378000	Enhancers	Fetal Intestine Small	intestine
12	chr5:126375800-126378400	Enhancers	HMEC	breast
13	chr5:126376000-126377400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:126376000-126377400	Enhancers	Left Ventricle	heart
15	chr5:126376000-126378000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:126376000-126391800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:126376200-126377400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:126376200-126377400	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr5:126376200-126377800	Enhancers	Fetal Heart	heart
20	chr5:126376200-126378000	Enhancers	Lung	lung
21	chr5:126376200-126378400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:126376200-126378800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:126376400-126378000	Enhancers	Brain Anterior Caudate	brain
24	chr5:126376400-126378200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:126376400-126378200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:126376400-126378200	Enhancers	K562	blood
27	chr5:126376400-126378800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:126376600-126377400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:126376600-126377400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr5:126376600-126377400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr5:126376600-126377400	Enhancers	Pancreas	Pancrea
32	chr5:126376600-126377400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr5:126376600-126377400	Flanking Active TSS	HUVEC	blood vessel
34	chr5:126376600-126377600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr5:126376600-126378000	Enhancers	Right Ventricle	heart
36	chr5:126376600-126378200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:126376600-126378200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:126376600-126378200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:126376600-126378200	Enhancers	Aorta	Aorta
40	chr5:126376600-126378200	Enhancers	Right Atrium	heart
41	chr5:126376600-126378200	Enhancers	HSMM	muscle
42	chr5:126376600-126378200	Enhancers	NH-A	brain
43	chr5:126376800-126377400	Enhancers	NHDF-Ad	bronchial
44	chr5:126376800-126378000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:126376800-126378200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:126376800-126378200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:126377000-126377400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:126377000-126377400	Active TSS	Colonic Mucosa	Colon
49	chr5:126377000-126377400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr5:126377000-126377400	Flanking Active TSS	Stomach Mucosa	stomach

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