Variant report

Variant	rs10502580
Chromosome Location	chr18:29629956-29629957
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29628181..29630533-chr18:29631429..29634258,2	K562	blood:
2	chr18:29627167..29630199-chr18:29636051..29638994,4	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10502581	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11874448	1.00[ASW][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.95[MKK][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55673393	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56403688	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57172349	1.00[EUR][1000 genomes]
rs57264191	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57412069	1.00[EUR][1000 genomes]
rs57807662	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58115302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59338045	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59424188	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59939125	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60448569	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60790636	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60933882	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61038301	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61499404	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61628852	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7236796	0.87[ASW][hapmap]
rs73954971	1.00[EUR][1000 genomes]
rs73954976	1.00[EUR][1000 genomes]
rs73954980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73954986	1.00[EUR][1000 genomes]
rs73954988	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	esv1803283	chr18:29591102-29640430	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
2	nsv1061305	chr18:29609935-29664528	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29600800-29632400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:29602600-29664200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr18:29604600-29656000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:29606800-29637000	Weak transcription	Brain Anterior Caudate	brain
5	chr18:29615200-29648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr18:29616000-29640200	Weak transcription	Esophagus	oesophagus
7	chr18:29618400-29639800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr18:29618400-29646800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr18:29618600-29642800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr18:29619400-29645400	Weak transcription	Fetal Stomach	stomach
11	chr18:29622800-29639800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:29626000-29657200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr18:29626200-29639800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr18:29626800-29630800	Enhancers	Primary B cells from cord blood	blood
15	chr18:29627000-29637600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:29627200-29632000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr18:29627400-29630800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr18:29627400-29637600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr18:29627600-29631400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr18:29627800-29631200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr18:29627800-29631400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr18:29627800-29631400	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr18:29627800-29631400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr18:29628200-29630200	Enhancers	Primary B cells from peripheral blood	blood
25	chr18:29628200-29630800	Enhancers	Fetal Intestine Small	intestine
26	chr18:29628200-29631200	Enhancers	Primary hematopoietic stem cells	blood
27	chr18:29628400-29630000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr18:29628400-29630000	Enhancers	Stomach Mucosa	stomach
29	chr18:29628400-29630200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr18:29628400-29630200	Enhancers	Adipose Nuclei	Adipose
31	chr18:29628400-29630200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr18:29628400-29630400	Enhancers	Duodenum Mucosa	Duodenum
33	chr18:29628400-29630600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr18:29628400-29631000	Enhancers	Fetal Intestine Large	intestine
35	chr18:29628400-29631000	Enhancers	Dnd41	blood
36	chr18:29628400-29631200	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr18:29628400-29631200	Genic enhancers	Primary T cells from cord blood	blood
38	chr18:29628600-29630000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr18:29628600-29630000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr18:29628600-29630000	Enhancers	Spleen	Spleen
41	chr18:29628600-29630200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr18:29628600-29630400	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr18:29628600-29630400	Enhancers	Small Intestine	intestine
44	chr18:29628600-29630600	Enhancers	Fetal Thymus	thymus
45	chr18:29628600-29631000	Enhancers	Placenta	Placenta
46	chr18:29628800-29630000	Enhancers	Brain Hippocampus Middle	brain
47	chr18:29628800-29630000	Enhancers	Brain Substantia Nigra	brain
48	chr18:29628800-29630000	Enhancers	Right Atrium	heart
49	chr18:29628800-29630400	Enhancers	Left Ventricle	heart
50	chr18:29629000-29630000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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