Variant report

Variant	rs11603291
Chromosome Location	chr11:9865856-9865857
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10500709	0.93[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840327	1.00[CHD][hapmap]
rs11042500	1.00[CHD][hapmap]
rs11042505	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11042521	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042525	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042543	1.00[CHD][hapmap]
rs11042561	1.00[CHD][hapmap]
rs11042595	1.00[CHD][hapmap]
rs11601125	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601212	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11601940	1.00[ASW][hapmap];0.81[CEU][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12416694	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12416904	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12416993	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419046	1.00[ASN][1000 genomes]
rs12419471	1.00[ASN][1000 genomes]
rs17269812	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17355675	1.00[CHD][hapmap]
rs4910075	1.00[CHD][hapmap]
rs4910081	1.00[CHD][hapmap]
rs4910084	1.00[CHD][hapmap]
rs55693083	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55782221	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876873	1.00[ASN][1000 genomes]
rs61876881	1.00[ASN][1000 genomes]
rs61876891	1.00[ASN][1000 genomes]
rs61876893	0.83[AMR][1000 genomes]
rs61876894	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115754	1.00[CHD][hapmap]
rs7938647	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv2762895	chr11:9849511-9954549	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11603291	ASCL3	cis	cerebellum	SCAN
rs11603291	SWAP70	cis	multi-tissue	Pritchard
rs11603291	SCUBE2	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9818600-9881400	Weak transcription	Spleen	Spleen
2	chr11:9824200-9867600	Weak transcription	Psoas Muscle	Psoas
3	chr11:9826800-9868200	Weak transcription	Aorta	Aorta
4	chr11:9830400-9880400	Weak transcription	Thymus	Thymus
5	chr11:9830800-9866800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:9830800-9880600	Weak transcription	Fetal Brain Male	brain
7	chr11:9833400-9868400	Weak transcription	Fetal Kidney	kidney
8	chr11:9833600-9878800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:9834200-9876600	Weak transcription	Brain Germinal Matrix	brain
10	chr11:9834600-9867400	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:9834600-9877200	Weak transcription	Right Ventricle	heart
12	chr11:9837600-9885800	Weak transcription	Hela-S3	cervix
13	chr11:9838600-9879800	Weak transcription	Fetal Thymus	thymus
14	chr11:9848200-9877000	Weak transcription	HepG2	liver
15	chr11:9851200-9880000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:9851600-9875400	Weak transcription	Stomach Mucosa	stomach
17	chr11:9851600-9880400	Weak transcription	Small Intestine	intestine
18	chr11:9853000-9871600	Weak transcription	Fetal Intestine Small	intestine
19	chr11:9853400-9877400	Weak transcription	Brain Substantia Nigra	brain
20	chr11:9854000-9868400	Weak transcription	Lung	lung
21	chr11:9854000-9877400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:9854000-9880600	Weak transcription	Colonic Mucosa	Colon
23	chr11:9856600-9880000	Weak transcription	Fetal Heart	heart
24	chr11:9859000-9872800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:9859600-9871400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:9859800-9880200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr11:9860600-9867200	Weak transcription	NHLF	lung
28	chr11:9861000-9866800	Weak transcription	NH-A	brain
29	chr11:9861000-9868400	Weak transcription	Brain Angular Gyrus	brain
30	chr11:9861200-9866800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:9861200-9866800	Weak transcription	Brain Anterior Caudate	brain
32	chr11:9861200-9867200	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:9861200-9867600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:9861400-9866600	Weak transcription	Osteobl	bone
35	chr11:9861400-9866800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:9861400-9866800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:9861400-9866800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:9861400-9866800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:9861400-9866800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:9861400-9866800	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:9861400-9866800	Weak transcription	HSMMtube	muscle
42	chr11:9861400-9867000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:9861400-9867000	Weak transcription	Primary B cells from cord blood	blood
44	chr11:9861400-9867000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:9861400-9867000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:9861400-9867200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:9861400-9867600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:9861400-9867600	Weak transcription	A549	lung
49	chr11:9861400-9867800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:9861400-9868400	Weak transcription	Fetal Brain Female	brain

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