Variant report

Variant	rs7559252
Chromosome Location	chr2:74400532-74400533
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	POLR2A	chr2:74400045-74400537	GM12878	blood:	n/a	n/a
2	ZNF384	chr2:74400447-74400607	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:74398418..74401052-chr2:74424457..74426717,2	MCF-7	breast:
2	chr2:74397813..74400618-chr2:74425096..74427227,2	MCF-7	breast:
3	chr2:74398845..74401491-chr2:74424210..74427393,3	K562	blood:

Variant related genes	Relation type
MOB1A	TF binding region
ENSG00000065911	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11126426	0.97[ASN][1000 genomes]
rs13426653	0.85[ASN][1000 genomes]
rs1620482	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1667601	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1667605	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1667606	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1667609	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1723292	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34611905	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35864597	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6546893	0.88[ASN][1000 genomes]
rs6546894	0.86[ASN][1000 genomes]
rs702466	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7562297	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8001	0.85[ASN][1000 genomes]
rs828853	0.85[ASN][1000 genomes]
rs828856	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs828873	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs828876	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs828877	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs828882	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs828883	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs828884	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs828885	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs828886	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs828888	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs828889	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs828903	0.87[ASN][1000 genomes]
rs844168	0.90[EUR][1000 genomes];0.90[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	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription 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	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
3	nsv834261	chr2:74391709-74613720	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS 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	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74375800-74403600	Weak transcription	Stomach Mucosa	stomach
2	chr2:74376000-74405000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:74376400-74400600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:74385000-74403600	Weak transcription	Psoas Muscle	Psoas
5	chr2:74390600-74405000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:74394800-74401800	Weak transcription	Fetal Brain Male	brain
7	chr2:74395400-74404000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:74395400-74404200	Weak transcription	Brain Substantia Nigra	brain
9	chr2:74395600-74403400	Weak transcription	NHEK	skin
10	chr2:74395800-74404000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:74396000-74402200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:74396000-74402200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:74396000-74402200	Weak transcription	Small Intestine	intestine
14	chr2:74396200-74402200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:74396200-74402200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:74396200-74403800	Weak transcription	Fetal Lung	lung
17	chr2:74396400-74404000	Weak transcription	Fetal Heart	heart
18	chr2:74396400-74404600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:74396600-74404000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:74397000-74402000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:74397200-74401600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:74397400-74402000	Weak transcription	HSMM	muscle
23	chr2:74397800-74404000	Weak transcription	Right Ventricle	heart
24	chr2:74397800-74404200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:74398000-74402000	Weak transcription	Pancreas	Pancrea
26	chr2:74398000-74402200	Weak transcription	NHDF-Ad	bronchial
27	chr2:74398000-74404000	Weak transcription	Brain Angular Gyrus	brain
28	chr2:74398000-74404000	Weak transcription	Brain Anterior Caudate	brain
29	chr2:74398000-74404000	Weak transcription	Colonic Mucosa	Colon
30	chr2:74398000-74404800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:74398000-74404800	Weak transcription	HSMMtube	muscle
32	chr2:74398000-74405000	Weak transcription	Aorta	Aorta
33	chr2:74398200-74402200	Weak transcription	Esophagus	oesophagus
34	chr2:74398200-74403800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:74398400-74402000	Weak transcription	Lung	lung
36	chr2:74398400-74402000	Weak transcription	Ovary	ovary
37	chr2:74398400-74405200	Weak transcription	Gastric	stomach
38	chr2:74398600-74400600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr2:74399000-74402000	Weak transcription	Fetal Intestine Small	intestine
40	chr2:74399000-74404200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:74399000-74404200	Weak transcription	Fetal Stomach	stomach
42	chr2:74399200-74400600	Genic enhancers	Primary B cells from peripheral blood	blood
43	chr2:74399200-74400600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr2:74399400-74400600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:74399400-74400600	Genic enhancers	K562	blood
46	chr2:74399400-74401400	Weak transcription	Spleen	Spleen
47	chr2:74399400-74402000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:74399400-74404000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:74399400-74404000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr2:74399400-74404000	Weak transcription	NHLF	lung

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