Variant report

Variant	rs60203229
Chromosome Location	chr11:73243153-73243154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10898921	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235736	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235772	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235783	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235784	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235786	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235787	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235789	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235791	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235792	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235796	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235802	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235803	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11235807	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235810	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235811	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235816	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417351	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417977	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418558	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420228	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421012	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132126	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244589	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1808095	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1939383	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087498	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34493385	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55885773	0.81[EUR][1000 genomes]
rs56277844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56375530	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56394842	0.88[EUR][1000 genomes]
rs57225667	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61018857	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1048171	chr11:73210060-73271831	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73232600-73249400	Weak transcription	Brain Germinal Matrix	brain
2	chr11:73236600-73244200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr11:73237800-73244200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr11:73238400-73243600	Weak transcription	Aorta	Aorta
5	chr11:73238600-73244000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:73239000-73245800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:73240000-73243800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:73240000-73244000	Enhancers	Brain Angular Gyrus	brain
9	chr11:73240000-73244200	Enhancers	Small Intestine	intestine
10	chr11:73240200-73243200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:73240200-73243400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:73240200-73243400	Enhancers	Duodenum Mucosa	Duodenum
13	chr11:73240200-73243800	Enhancers	Brain Cingulate Gyrus	brain
14	chr11:73240200-73244400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr11:73240200-73245000	Weak transcription	Fetal Kidney	kidney
16	chr11:73240200-73249600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:73240200-73252600	Weak transcription	Placenta	Placenta
18	chr11:73240400-73243200	Weak transcription	Fetal Intestine Small	intestine
19	chr11:73240400-73244000	Enhancers	Brain Hippocampus Middle	brain
20	chr11:73240400-73247800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:73240400-73248600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:73240400-73248600	Weak transcription	Dnd41	blood
23	chr11:73240400-73249200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:73240400-73249400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:73240400-73249400	Weak transcription	HMEC	breast
26	chr11:73240400-73249600	Weak transcription	Adipose Nuclei	Adipose
27	chr11:73240400-73251600	Weak transcription	Fetal Intestine Large	intestine
28	chr11:73240400-73253800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:73240400-73254400	Weak transcription	Stomach Mucosa	stomach
30	chr11:73240600-73243800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr11:73240600-73249400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:73240600-73255400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:73241200-73243200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr11:73241400-73243200	Enhancers	Fetal Thymus	thymus
35	chr11:73241400-73244000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr11:73241400-73251400	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:73241600-73243600	Weak transcription	HepG2	liver
38	chr11:73241600-73247400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr11:73241600-73248800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:73241600-73249400	Weak transcription	Thymus	Thymus
41	chr11:73241600-73250600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:73241800-73243600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:73242000-73245000	Enhancers	Brain Substantia Nigra	brain
44	chr11:73242000-73248000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr11:73242200-73243200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:73242200-73243400	Enhancers	Primary T cells from cord blood	blood
47	chr11:73242200-73243800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:73242200-73244600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:73242200-73250600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:73242400-73243200	Enhancers	Right Atrium	heart

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