Variant report

Variant	rs607736
Chromosome Location	chr11:66328877-66328878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66328699..66330263-chr11:66360114..66361781,2	K562	blood:
2	chr11:66327492..66329082-chr11:66331211..66334153,2	MCF-7	breast:
3	chr11:66311617..66317579-chr11:66325496..66333927,8	MCF-7	breast:
4	chr11:66323180..66325641-chr11:66328411..66330736,2	MCF-7	breast:
5	chr11:66327944..66330725-chr11:66391381..66393880,2	K562	blood:

Variant related genes	Relation type
ENSG00000182791	Chromatin interaction
ENSG00000173992	Chromatin interaction
ENSG00000174165	Chromatin interaction
ENSG00000174080	Chromatin interaction
ENSG00000248746	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1044522	0.92[ASN][1000 genomes]
rs10896126	0.90[ASN][1000 genomes]
rs1201433	0.82[ASN][1000 genomes]
rs1791679	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1791690	0.81[AFR][1000 genomes]
rs1945302	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242663	1.00[ASN][1000 genomes]
rs2511224	0.86[ASN][1000 genomes]
rs4277117	0.88[ASN][1000 genomes]
rs490998	0.81[AFR][1000 genomes]
rs4930383	0.95[ASN][1000 genomes]
rs4930384	0.99[ASN][1000 genomes]
rs610293	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7951189	0.90[ASN][1000 genomes]

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	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv897787	chr11:66300348-66347850	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv897788	chr11:66319262-66347850	Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs607736	ACTN3	cis	Muscle Skeletal	GTEx
rs607736	CTD-3074O7.2	cis	Muscle Skeletal	GTEx

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66319000-66337800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:66321400-66330400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:66321400-66331600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:66322600-66331400	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr11:66325000-66329200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:66326600-66329000	Weak transcription	Brain Angular Gyrus	brain
7	chr11:66326600-66329400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:66326600-66329600	Weak transcription	Brain Substantia Nigra	brain
9	chr11:66326600-66331800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:66326600-66334800	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:66326800-66329400	Weak transcription	Adipose Nuclei	Adipose
12	chr11:66326800-66329800	Weak transcription	Brain Anterior Caudate	brain
13	chr11:66326800-66329800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:66326800-66329800	Weak transcription	Fetal Brain Female	brain
15	chr11:66326800-66331200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:66326800-66331200	Weak transcription	Right Ventricle	heart
17	chr11:66326800-66331400	Weak transcription	Liver	Liver
18	chr11:66326800-66334800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:66326800-66334800	Weak transcription	Pancreas	Pancrea
20	chr11:66326800-66335000	Weak transcription	Psoas Muscle	Psoas
21	chr11:66326800-66335000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:66326800-66335200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:66326800-66335200	Weak transcription	Esophagus	oesophagus
24	chr11:66326800-66335200	Weak transcription	Left Ventricle	heart
25	chr11:66326800-66335200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:66327000-66330400	Weak transcription	Ovary	ovary
27	chr11:66327000-66332600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:66327000-66333000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:66327000-66335200	Weak transcription	Fetal Heart	heart
30	chr11:66327200-66329000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:66327200-66329400	Weak transcription	Brain Germinal Matrix	brain
32	chr11:66327200-66329400	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:66327200-66329600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:66327200-66330400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr11:66327200-66330800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:66327200-66332200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:66327200-66333200	Weak transcription	Lung	lung
38	chr11:66327200-66335000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:66327400-66329400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:66327400-66331800	Weak transcription	Placenta	Placenta
41	chr11:66327400-66334600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr11:66327400-66335200	Weak transcription	Right Atrium	heart
43	chr11:66327600-66330400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:66327600-66332200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:66327800-66329400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:66327800-66330400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:66327800-66330600	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:66327800-66331200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:66327800-66332000	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr11:66328000-66329400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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