Variant report

Variant	rs1201433
Chromosome Location	chr11:66305274-66305275
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66304927..66310447-chr11:66310654..66314937,8	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTSF-2	chr11:66303369-66305407	ENSG00000269990.1

Variant related genes	Relation type
ENSG00000248746	Chromatin interaction
ENSG00000174165	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10896126	0.85[ASN][1000 genomes]
rs1791679	0.80[ASN][1000 genomes]
rs1945302	0.82[ASN][1000 genomes]
rs2242663	0.82[ASN][1000 genomes]
rs2511224	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2511225	0.83[EUR][1000 genomes]
rs4930384	0.81[ASN][1000 genomes]
rs607736	0.82[ASN][1000 genomes]
rs610293	0.86[ASN][1000 genomes]
rs7123875	0.83[EUR][1000 genomes]
rs7951189	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv3470852	chr11:66303930-66305318	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3470863	chr11:66303930-66305318	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1201433	ACTN3	cis	Muscle Skeletal	GTEx
rs1201433	CTD-3074O7.2	cis	Muscle Skeletal	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66278600-66311000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66278800-66309800	Weak transcription	HSMMtube	muscle
3	chr11:66278800-66312800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:66279000-66306200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:66279000-66309200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:66279000-66313000	Weak transcription	Small Intestine	intestine
7	chr11:66279200-66309800	Weak transcription	HUVEC	blood vessel
8	chr11:66279200-66310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:66279400-66311000	Weak transcription	Fetal Brain Male	brain
12	chr11:66279400-66311200	Weak transcription	Right Atrium	heart
13	chr11:66281000-66311000	Strong transcription	Fetal Stomach	stomach
14	chr11:66282000-66309600	Weak transcription	NHDF-Ad	bronchial
15	chr11:66283400-66312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:66289000-66308200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:66289000-66309800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:66289000-66312800	Weak transcription	Stomach Mucosa	stomach
19	chr11:66290200-66310800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:66291000-66309800	Weak transcription	HSMM	muscle
21	chr11:66291200-66306200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:66291200-66309800	Weak transcription	NH-A	brain
23	chr11:66291200-66311600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:66291400-66305800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:66291400-66305800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:66291400-66309400	Weak transcription	A549	lung
27	chr11:66291400-66309600	Weak transcription	GM12878-XiMat	blood
28	chr11:66291400-66311000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:66291600-66306200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:66291600-66309200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:66291600-66309800	Weak transcription	HMEC	breast
32	chr11:66291600-66312600	Weak transcription	NHEK	skin
33	chr11:66292000-66306200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:66292000-66306200	Weak transcription	Dnd41	blood
35	chr11:66292000-66306600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:66293600-66311000	Strong transcription	Fetal Intestine Small	intestine
37	chr11:66294600-66306200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:66294600-66306600	Weak transcription	NHLF	lung
39	chr11:66294600-66308800	Weak transcription	Brain Substantia Nigra	brain
40	chr11:66294800-66312400	Weak transcription	Hela-S3	cervix
41	chr11:66295800-66306000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr11:66296200-66311200	Weak transcription	Fetal Kidney	kidney
43	chr11:66298400-66306200	Weak transcription	Brain Angular Gyrus	brain
44	chr11:66299200-66311200	Weak transcription	Fetal Lung	lung
45	chr11:66299600-66306200	Weak transcription	Gastric	stomach
46	chr11:66299600-66306600	Weak transcription	Right Ventricle	heart
47	chr11:66299800-66306200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:66299800-66306600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr11:66300000-66306200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:66300200-66307000	Weak transcription	Esophagus	oesophagus

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