Variant report

Variant	rs8914
Chromosome Location	chr11:46699124-46699125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46696933..46699837-chr11:46720239..46724701,5	MCF-7	breast:
2	chr11:46697367..46699495-chr11:46700112..46702121,3	K562	blood:
3	chr11:46693214..46695028-chr11:46698382..46701368,2	K562	blood:
4	chr11:46698595..46700569-chr11:46727861..46730594,2	K562	blood:
5	chr11:46698989..46701507-chr11:46716489..46718835,2	K562	blood:

Variant related genes	Relation type
ENSG00000175220	Chromatin interaction
ENSG00000175213	Chromatin interaction
ENSG00000175224	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11038913	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[AFR][1000 genomes]
rs11038990	1.00[AFR][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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking 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	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8914	MADD	cis	parietal	SCAN
rs8914	MADD	cis	cerebellum	SCAN
rs8914	CELF1	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46667200-46717000	Strong transcription	Brain Germinal Matrix	brain
2	chr11:46689600-46706200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:46691600-46705600	Weak transcription	Fetal Brain Male	brain
4	chr11:46691600-46709200	Weak transcription	HUVEC	blood vessel
5	chr11:46691800-46699200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:46693200-46700200	Weak transcription	GM12878-XiMat	blood
7	chr11:46694400-46699600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:46695200-46701600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:46695400-46699800	Weak transcription	K562	blood
10	chr11:46695600-46700000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:46695600-46700200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:46695600-46700200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr11:46695600-46700400	Genic enhancers	Spleen	Spleen
14	chr11:46696000-46699600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:46696000-46699800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:46696400-46699200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr11:46696400-46699200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr11:46696600-46700400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:46697000-46700000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:46697200-46700600	Genic enhancers	Primary T cells fromperipheralblood	blood
21	chr11:46697200-46701400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:46697200-46705200	Strong transcription	Fetal Brain Female	brain
23	chr11:46697200-46705800	Strong transcription	Thymus	Thymus
24	chr11:46697200-46716000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:46697200-46721200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:46697400-46699600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:46697400-46699600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:46697400-46699600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:46697400-46700000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:46697400-46700000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:46697400-46700000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr11:46697400-46700400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:46697400-46700400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
34	chr11:46697400-46703800	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr11:46697600-46699200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:46697600-46699200	Genic enhancers	Esophagus	oesophagus
37	chr11:46697600-46699800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:46697600-46699800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:46697600-46699800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:46697600-46699800	Genic enhancers	Fetal Muscle Leg	muscle
41	chr11:46697600-46699800	Weak transcription	NH-A	brain
42	chr11:46697600-46700200	Weak transcription	A549	lung
43	chr11:46697600-46700600	Weak transcription	Psoas Muscle	Psoas
44	chr11:46697600-46701600	Weak transcription	Hela-S3	cervix
45	chr11:46697800-46699200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:46697800-46699800	Weak transcription	HMEC	breast
47	chr11:46697800-46700000	Genic enhancers	Placenta	Placenta
48	chr11:46697800-46700200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:46697800-46704200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:46697800-46704800	Weak transcription	Fetal Heart	heart

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