Variant report

Variant	rs2015748
Chromosome Location	chr21:40202969-40202970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40175881..40179455-chr21:40201702..40207885,11	MCF-7	breast:
2	chr21:40189866..40191411-chr21:40201811..40203676,2	MCF-7	breast:
3	chr21:40196402..40198026-chr21:40202193..40204500,2	K562	blood:
4	chr21:40202141..40208683-chr21:40214749..40222143,9	K562	blood:
5	chr21:40188480..40191241-chr21:40201204..40203574,2	K562	blood:
6	chr21:40202120..40203721-chr21:40220643..40222450,2	K562	blood:
7	chr21:40189822..40191337-chr21:40202443..40204626,2	MCF-7	breast:
8	chr21:40180454..40185296-chr21:40201634..40204434,7	K562	blood:
9	chr21:40202074..40204721-chr21:40221926..40224763,2	MCF-7	breast:
10	chr21:40175294..40179502-chr21:40201748..40206259,10	K562	blood:
11	chr21:40175199..40185296-chr21:40201950..40208355,14	K562	blood:
12	chr21:40192057..40193677-chr21:40201859..40203511,2	MCF-7	breast:
13	chr21:40196402..40199978-chr21:40201440..40206017,5	K562	blood:
14	chr21:40181095..40183169-chr21:40202885..40205120,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction
ENSG00000229986	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1009122	0.86[EUR][1000 genomes]
rs1009123	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11700716	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13047489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13047716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13048664	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1534827	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1882734	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1893203	0.81[EUR][1000 genomes]
rs1893204	0.81[EUR][1000 genomes]
rs2836697	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2836700	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836703	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs374575	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs455328	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs456574	0.90[EUR][1000 genomes]
rs464366	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs464476	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs465657	0.83[CHB][hapmap]
rs468057	0.94[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55938987	0.81[EUR][1000 genomes]
rs7276433	0.81[EUR][1000 genomes]
rs7279430	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7281107	0.81[EUR][1000 genomes]
rs7281192	0.81[EUR][1000 genomes]
rs7281242	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs7281259	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs7281698	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs877372	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs909103	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2015748	DSCAM	cis	parietal	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40194600-40203200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr21:40195000-40212600	Weak transcription	Right Atrium	heart
3	chr21:40195200-40203400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr21:40195200-40204800	Weak transcription	Aorta	Aorta
5	chr21:40195200-40213800	Weak transcription	Fetal Kidney	kidney
6	chr21:40196400-40206600	Weak transcription	Gastric	stomach
7	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
8	chr21:40196600-40203000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr21:40196600-40203000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr21:40196600-40203000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr21:40196600-40203400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr21:40196600-40205000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr21:40196600-40211000	Weak transcription	Pancreas	Pancrea
14	chr21:40196800-40203200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr21:40196800-40203200	Weak transcription	Osteobl	bone
16	chr21:40196800-40203400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr21:40196800-40203400	Weak transcription	A549	lung
18	chr21:40197000-40203600	Weak transcription	NH-A	brain
19	chr21:40197000-40211800	Weak transcription	Esophagus	oesophagus
20	chr21:40197400-40203000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr21:40197600-40203000	Weak transcription	Fetal Intestine Large	intestine
22	chr21:40197600-40203000	Weak transcription	Left Ventricle	heart
23	chr21:40197600-40203400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr21:40202600-40203000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr21:40202600-40203600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr21:40202600-40203600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr21:40202600-40204000	Enhancers	Thymus	Thymus
28	chr21:40202600-40204200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr21:40202600-40204200	Enhancers	Dnd41	blood
30	chr21:40202600-40204400	Enhancers	Primary B cells from peripheral blood	blood
31	chr21:40202600-40204400	Enhancers	Primary hematopoietic stem cells	blood
32	chr21:40202600-40204800	Enhancers	Placenta	Placenta
33	chr21:40202600-40205400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr21:40202600-40205600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr21:40202600-40207600	Enhancers	HepG2	liver
36	chr21:40202800-40203000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr21:40202800-40203200	Enhancers	Primary B cells from cord blood	blood
38	chr21:40202800-40203200	Enhancers	Brain Anterior Caudate	brain
39	chr21:40202800-40203200	Enhancers	Spleen	Spleen
40	chr21:40202800-40203400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr21:40202800-40203400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr21:40202800-40203400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr21:40202800-40203400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr21:40202800-40203400	Enhancers	Colonic Mucosa	Colon
45	chr21:40202800-40203400	Enhancers	GM12878-XiMat	blood
46	chr21:40202800-40203600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr21:40202800-40203600	Enhancers	Stomach Mucosa	stomach
48	chr21:40202800-40203800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr21:40202800-40203800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr21:40202800-40203800	Enhancers	Psoas Muscle	Psoas

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