Variant report

Variant	rs4757615
Chromosome Location	chr11:18119884-18119885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18114312..18117170-chr11:18118246..18120137,2	K562	blood:
2	chr11:18108743..18110773-chr11:18118441..18121392,2	K562	blood:
3	chr11:18119528..18121940-chr11:18122480..18124459,3	K562	blood:
4	chr11:18118808..18120396-chr11:18125580..18127566,2	K562	blood:
5	chr11:18036213..18038054-chr11:18118246..18120571,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166788	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs17721184	0.90[CEU][hapmap]
rs17721739	0.90[CEU][hapmap]
rs17794213	0.90[CEU][hapmap]
rs17794760	0.90[CEU][hapmap]
rs211134	0.90[CEU][hapmap]
rs2237912	0.90[CEU][hapmap]
rs2283236	0.90[CEU][hapmap]
rs2283239	0.88[CEU][hapmap]
rs2468781	1.00[ASN][1000 genomes]
rs2468782	1.00[CHB][hapmap];0.87[CHD][hapmap];0.86[ASN][1000 genomes]
rs2468849	1.00[CHB][hapmap]
rs394218	0.90[CEU][hapmap]
rs3993323	0.90[CEU][hapmap]
rs3993324	0.88[CEU][hapmap]
rs440234	0.90[CEU][hapmap]
rs4619132	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs4757605	0.90[CEU][hapmap]
rs56272125	0.86[ASN][1000 genomes]
rs58681728	0.86[ASN][1000 genomes]
rs61882526	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882533	1.00[ASN][1000 genomes]
rs61884067	0.86[ASN][1000 genomes]
rs61884068	0.86[ASN][1000 genomes]
rs6486407	1.00[ASN][1000 genomes]
rs67231939	1.00[ASN][1000 genomes]
rs758437	1.00[CEU][hapmap]
rs7937049	1.00[CHB][hapmap];0.89[GIH][hapmap]
rs7937679	0.81[EUR][1000 genomes]
rs7937884	1.00[CHB][hapmap];0.89[GIH][hapmap];0.87[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers 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 miRNA target site	156 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4757615	UEVLD	cis	parietal	SCAN
rs4757615	PIK3C2A	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18098200-18124400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:18099000-18125800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:18099800-18124800	Strong transcription	Dnd41	blood
4	chr11:18100200-18126200	Weak transcription	Small Intestine	intestine
5	chr11:18100400-18126000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:18100600-18125600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:18100800-18126000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:18101000-18122000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:18103400-18126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:18104800-18125200	Strong transcription	Primary T cells from cord blood	blood
11	chr11:18104800-18125200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:18105400-18125800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:18107200-18126000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:18107400-18121600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:18107400-18125800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:18107600-18125400	Strong transcription	Fetal Muscle Leg	muscle
17	chr11:18107800-18126200	Weak transcription	NHDF-Ad	bronchial
18	chr11:18108200-18125200	Strong transcription	Primary B cells from cord blood	blood
19	chr11:18108600-18122800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:18110600-18126200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:18111000-18123600	Weak transcription	Aorta	Aorta
22	chr11:18111000-18126600	Weak transcription	Right Ventricle	heart
23	chr11:18111200-18125200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:18113000-18125600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:18113400-18125400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:18113800-18120000	Strong transcription	Thymus	Thymus
27	chr11:18114200-18125400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:18115600-18123200	Weak transcription	Osteobl	bone
29	chr11:18115800-18126000	Weak transcription	Fetal Heart	heart
30	chr11:18116000-18122600	Weak transcription	Fetal Brain Male	brain
31	chr11:18116000-18122600	Weak transcription	A549	lung
32	chr11:18116000-18125800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:18116000-18126000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:18116000-18127000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr11:18116200-18121000	Weak transcription	Fetal Lung	lung
36	chr11:18116200-18121000	Weak transcription	NH-A	brain
37	chr11:18116200-18123400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:18116200-18123400	Weak transcription	Fetal Intestine Small	intestine
39	chr11:18116200-18126600	Weak transcription	Psoas Muscle	Psoas
40	chr11:18116400-18122600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:18116800-18122600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:18116800-18122600	Weak transcription	GM12878-XiMat	blood
43	chr11:18116800-18122800	Weak transcription	Spleen	Spleen
44	chr11:18116800-18123400	Weak transcription	NHLF	lung
45	chr11:18116800-18124800	Weak transcription	Pancreas	Pancrea
46	chr11:18117000-18126200	Weak transcription	Gastric	stomach
47	chr11:18117000-18126400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr11:18117600-18120400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:18117600-18120600	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:18117600-18121200	Weak transcription	Left Ventricle	heart

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