Variant report

Variant	rs7593918
Chromosome Location	chr2:10300390-10300391
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10272274..10274991-chr2:10298937..10301947,3	K562	blood:
2	chr2:10292229..10297354-chr2:10297861..10300566,4	K562	blood:
3	chr2:10299807..10303440-chr2:10586234..10589711,3	K562	blood:
4	chr2:10299318..10302918-chr2:10305124..10307341,4	K562	blood:
5	chr2:10275050..10276633-chr2:10298060..10300888,2	K562	blood:
6	chr2:10295754..10297354-chr2:10298419..10300657,2	K562	blood:

Variant related genes	Relation type
ENSG00000115758	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000206647	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10205991	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1035120	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11891059	0.83[ASN][1000 genomes]
rs13403621	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17379350	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4550641	0.86[ASN][1000 genomes]
rs4630742	0.84[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4669544	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4669545	0.88[YRI][hapmap]
rs55642251	0.86[ASN][1000 genomes]
rs55728000	0.86[ASN][1000 genomes]
rs6711940	0.86[ASN][1000 genomes]
rs6718918	0.86[ASN][1000 genomes]
rs72786692	0.92[ASN][1000 genomes]
rs72786699	0.93[ASN][1000 genomes]
rs72786701	0.93[ASN][1000 genomes]
rs72788303	0.89[ASN][1000 genomes]
rs72788304	0.91[ASN][1000 genomes]
rs72788306	0.88[ASN][1000 genomes]
rs72788307	0.91[ASN][1000 genomes]
rs72788313	0.86[ASN][1000 genomes]
rs72788315	0.86[ASN][1000 genomes]
rs72788320	0.86[ASN][1000 genomes]
rs72788324	0.86[ASN][1000 genomes]
rs72788326	0.86[ASN][1000 genomes]
rs72788352	0.87[ASN][1000 genomes]
rs72788354	0.87[ASN][1000 genomes]
rs7566844	0.84[ASN][1000 genomes]
rs7584303	0.86[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	nsv873634	chr2:10275814-10337034	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv873635	chr2:10286466-10344465	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv873636	chr2:10300390-10331919	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7593918	RSAD2	cis	cerebellum	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10271400-10303800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:10273800-10330400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:10276400-10307400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:10276600-10301800	Weak transcription	Osteobl	bone
5	chr2:10277600-10321600	Weak transcription	K562	blood
6	chr2:10278000-10302200	Weak transcription	HSMM	muscle
7	chr2:10278000-10311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:10282200-10316600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:10285400-10302000	Weak transcription	HMEC	breast
10	chr2:10285600-10307400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:10285800-10310400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:10286400-10301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:10286400-10331400	Weak transcription	Spleen	Spleen
14	chr2:10286600-10304000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:10286800-10312400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:10287000-10301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:10287000-10303800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:10287000-10312000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:10288400-10307600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:10290200-10300400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:10290200-10351400	Strong transcription	Dnd41	blood
22	chr2:10293000-10307600	Weak transcription	Gastric	stomach
23	chr2:10293400-10302800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:10295400-10306400	Strong transcription	Thymus	Thymus
25	chr2:10296000-10302000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:10296000-10303800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:10296200-10300600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:10296200-10310200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:10296200-10314400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:10296400-10310400	Weak transcription	Hela-S3	cervix
31	chr2:10296400-10312400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:10296400-10312600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:10296800-10303600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:10296800-10304400	Weak transcription	HepG2	liver
35	chr2:10296800-10309800	Weak transcription	A549	lung
36	chr2:10297000-10300600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:10298400-10300600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:10298800-10300800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr2:10299000-10300400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:10299000-10300600	Genic enhancers	Fetal Thymus	thymus
41	chr2:10299000-10303800	Enhancers	Fetal Intestine Large	intestine
42	chr2:10299000-10304200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:10299200-10300400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:10299200-10300800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:10299200-10305200	Enhancers	HUVEC	blood vessel
46	chr2:10299400-10300400	Enhancers	NH-A	brain
47	chr2:10299400-10300600	Enhancers	Primary T cells fromperipheralblood	blood
48	chr2:10299400-10300600	Enhancers	Fetal Lung	lung
49	chr2:10299400-10300600	Enhancers	Fetal Stomach	stomach
50	chr2:10299400-10301200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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