Variant report

Variant	rs56193814
Chromosome Location	chr1:63142771-63142772
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:63140831..63143543-chr1:63152507..63154654,2	MCF-7	breast:
2	chr1:63139232..63141601-chr1:63141772..63144186,2	K562	blood:
3	chr1:63141617..63143983-chr1:63151351..63153918,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235545	Chromatin interaction
ENSG00000116641	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10493323	1.00[EUR][1000 genomes]
rs1168121	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12563308	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12563863	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12565895	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12566265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1408480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123615	1.00[EUR][1000 genomes]
rs17123688	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17123694	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17123705	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17123712	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17123721	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17123725	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17123740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123784	0.81[AFR][1000 genomes]
rs2016736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34898550	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36157139	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3737890	1.00[EUR][1000 genomes]
rs55709519	1.00[EUR][1000 genomes]
rs56094630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56792530	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57022388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59505425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59662235	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59816054	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60339595	1.00[EUR][1000 genomes]
rs610248	1.00[EUR][1000 genomes]
rs61308091	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61501887	1.00[EUR][1000 genomes]
rs74076653	1.00[EUR][1000 genomes]
rs74076654	1.00[EUR][1000 genomes]
rs74076668	1.00[EUR][1000 genomes]
rs74076670	1.00[EUR][1000 genomes]
rs74076686	1.00[EUR][1000 genomes]
rs74076689	1.00[EUR][1000 genomes]
rs74076691	1.00[EUR][1000 genomes]
rs74076695	1.00[EUR][1000 genomes]
rs74076699	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74076907	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74076909	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74078610	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74078643	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74078661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63107400-63151200	Weak transcription	Pancreas	Pancrea
2	chr1:63107600-63147800	Weak transcription	NHEK	skin
3	chr1:63108800-63151200	Weak transcription	Fetal Stomach	stomach
4	chr1:63109000-63147800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:63109200-63143000	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:63109200-63150200	Weak transcription	Fetal Brain Male	brain
7	chr1:63111400-63150200	Weak transcription	Fetal Lung	lung
8	chr1:63112400-63142800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:63112400-63152400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:63113600-63151000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:63113600-63152800	Weak transcription	Primary B cells from cord blood	blood
12	chr1:63114000-63143000	Weak transcription	Aorta	Aorta
13	chr1:63118000-63150800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:63118200-63147600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:63119000-63148000	Weak transcription	Fetal Brain Female	brain
16	chr1:63119800-63150200	Weak transcription	Adipose Nuclei	Adipose
17	chr1:63123000-63147800	Weak transcription	Gastric	stomach
18	chr1:63126800-63147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:63128800-63147400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:63128800-63150800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:63131200-63149200	Weak transcription	Fetal Intestine Small	intestine
22	chr1:63133000-63147600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:63134200-63143000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:63135000-63142800	Weak transcription	Fetal Heart	heart
25	chr1:63137400-63147800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:63138000-63153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:63138400-63151000	Weak transcription	Fetal Intestine Large	intestine
28	chr1:63138600-63150800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:63138800-63148200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:63138800-63150000	Weak transcription	Stomach Mucosa	stomach
31	chr1:63140800-63143200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:63140800-63148000	Weak transcription	Brain Germinal Matrix	brain
33	chr1:63141000-63142800	Weak transcription	HepG2	liver
34	chr1:63141200-63143200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr1:63141400-63143000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr1:63141400-63144000	Weak transcription	Lung	lung
37	chr1:63141400-63152600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:63141600-63142800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr1:63141600-63142800	Enhancers	Colon Smooth Muscle	Colon
40	chr1:63141600-63143400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:63141600-63149000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:63141800-63143200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr1:63142000-63143200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr1:63142000-63145000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:63142000-63147600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:63142200-63143000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr1:63142200-63143000	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr1:63142200-63143200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:63142200-63143200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr1:63142200-63143200	Enhancers	Primary monocytes fromperipheralblood	blood

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