Variant report

Variant	rs58914241
Chromosome Location	chr2:86679861-86679862
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	chr2:86678462-86682101	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:86679722..86682996-chr2:86685853..86688858,3	K562	blood:
2	chr2:86678168..86680549-chr2:86693508..86696096,2	K562	blood:
3	chr2:86677483..86680429-chr2:86702820..86704627,2	K562	blood:

Variant related genes	Relation type
KDM3A	TF binding region
ENSG00000115548	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10181540	0.86[EUR][1000 genomes]
rs1105862	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1105863	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1105864	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2276624	1.00[EUR][1000 genomes]
rs3731811	1.00[EUR][1000 genomes]
rs3821013	1.00[EUR][1000 genomes]
rs41318646	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58449699	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58740162	0.84[ASN][1000 genomes]
rs59064682	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59714766	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61748134	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6547681	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6547683	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6547684	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6707865	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6709505	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6730867	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6731264	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6731801	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6736342	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6744590	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6748880	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6756078	0.90[EUR][1000 genomes]
rs72928446	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73945294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73949503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73949512	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568093	0.90[EUR][1000 genomes]
rs7574555	0.90[EUR][1000 genomes]
rs870372	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs870373	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs870374	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs870375	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs949922	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 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	chr2:86670000-86684200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:86670400-86693400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:86670800-86681000	Weak transcription	Stomach Mucosa	stomach
4	chr2:86670800-86684200	Weak transcription	Colonic Mucosa	Colon
5	chr2:86671000-86725600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:86671200-86689400	Strong transcription	Primary B cells from cord blood	blood
7	chr2:86671400-86684200	Weak transcription	Gastric	stomach
8	chr2:86671400-86685600	Weak transcription	Esophagus	oesophagus
9	chr2:86671400-86687800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:86671400-86722600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:86671400-86725600	Strong transcription	A549	lung
12	chr2:86671600-86680800	Weak transcription	Fetal Brain Male	brain
13	chr2:86671600-86695400	Strong transcription	HSMM	muscle
14	chr2:86671600-86719800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:86671600-86723600	Strong transcription	Fetal Thymus	thymus
16	chr2:86671600-86726000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:86671800-86680400	Weak transcription	Right Atrium	heart
18	chr2:86671800-86726600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:86672000-86681400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:86672600-86721200	Strong transcription	Fetal Intestine Large	intestine
21	chr2:86672600-86724200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:86672800-86680400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:86672800-86680600	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr2:86674000-86685200	Weak transcription	Pancreas	Pancrea
25	chr2:86674200-86726800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:86674600-86721400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:86674800-86680200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr2:86674800-86695000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr2:86675000-86680400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:86675000-86682600	Strong transcription	K562	blood
31	chr2:86675200-86680600	Strong transcription	Brain Cingulate Gyrus	brain
32	chr2:86675400-86694600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:86675600-86692000	Strong transcription	Dnd41	blood
34	chr2:86675800-86680000	Strong transcription	HUVEC	blood vessel
35	chr2:86676000-86680800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:86676200-86682600	Strong transcription	Primary T cells from cord blood	blood
37	chr2:86676400-86680400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr2:86676400-86680400	Strong transcription	HMEC	breast
39	chr2:86676400-86680600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:86676400-86681200	Strong transcription	Fetal Muscle Leg	muscle
41	chr2:86676400-86683200	Strong transcription	Thymus	Thymus
42	chr2:86676400-86693600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:86676400-86722600	Strong transcription	GM12878-XiMat	blood
44	chr2:86676600-86680400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:86676600-86680600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:86676600-86680600	Strong transcription	HSMMtube	muscle
47	chr2:86676600-86695600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:86676600-86721600	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:86676600-86727200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:86676800-86680000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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