Variant report

Variant	rs34075366
Chromosome Location	chr11:71706544-71706545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:71706272-71707455	K562	blood:	n/a	n/a
2	NR2F2	chr11:71706532-71707305	K562	blood:	n/a	n/a
3	TBL1XR1	chr11:71706407-71707171	K562	blood:	n/a	n/a
4	MAX	chr11:71706319-71707207	K562	blood:	n/a	n/a
5	CEBPD	chr11:71706529-71707254	K562	blood:	n/a	n/a
6	POLR2A	chr11:71706431-71707174	K562	blood:	n/a	n/a
7	TEAD4	chr11:71705822-71707310	K562	blood:	n/a	n/a
8	STAT5A	chr11:71706480-71707125	K562	blood:	n/a	chr11:71706496-71706520
9	CUX1	chr11:71706384-71707048	K562	blood:	n/a	n/a
10	POLR2A	chr11:71706534-71707250	K562	blood:	n/a	n/a
11	CBX3	chr11:71706508-71707181	K562	blood:	n/a	n/a
12	MEF2A	chr11:71706526-71707036	K562	blood:	n/a	n/a
13	RCOR1	chr11:71705935-71707152	K562	blood:	n/a	n/a
14	GATA1	chr11:71706332-71707510	PBDE	blood:	n/a	chr11:71706978-71706989 chr11:71706853-71706870
15	PML	chr11:71706501-71707151	K562	blood:	n/a	n/a
16	CEBPB	chr11:71706191-71707334	K562	blood:	n/a	n/a
17	BHLHE40	chr11:71706340-71707084	K562	blood:	n/a	n/a
18	TAL1	chr11:71706152-71707317	K562	blood:	n/a	chr11:71707140-71707149 chr11:71706852-71706870
19	ZMIZ1	chr11:71706377-71707073	K562	blood:	n/a	n/a
20	EP300	chr11:71706311-71707137	K562	blood:	n/a	n/a
21	PML	chr11:71706517-71707231	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71703508..71707371-chr11:71709245..71711101,3	K562	blood:
2	chr11:71705470..71708103-chr11:71933163..71935736,2	K562	blood:

Variant related genes	Relation type
IL18BP	TF binding region
ENSG00000165458	Chromatin interaction
ENSG00000137496	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17161701	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17161942	0.87[EUR][1000 genomes]
rs2276383	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2276385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35501875	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35844388	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3750913	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3750914	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3763797	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55743841	0.92[EUR][1000 genomes]
rs55815017	0.92[EUR][1000 genomes]
rs55938043	0.88[EUR][1000 genomes]
rs55992367	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57162500	0.92[EUR][1000 genomes]
rs5743658	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5743661	0.88[ASN][1000 genomes]
rs57637306	0.92[EUR][1000 genomes]
rs60057760	0.92[EUR][1000 genomes]
rs60165720	0.92[EUR][1000 genomes]
rs61745941	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7111712	0.96[EUR][1000 genomes]
rs7113974	0.92[EUR][1000 genomes]
rs72477716	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73527732	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73544108	0.92[EUR][1000 genomes]
rs9667883	0.93[AMR][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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers 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	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34075366	KCNAB1	trans	lymphoblastoid	RTeQTL
rs34075366	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71660800-71709400	Weak transcription	Stomach Mucosa	stomach
2	chr11:71661000-71709600	Weak transcription	Small Intestine	intestine
3	chr11:71672200-71715200	Weak transcription	Fetal Brain Male	brain
4	chr11:71672400-71709400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:71672600-71709200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:71673600-71710800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:71673800-71707800	Weak transcription	Fetal Heart	heart
8	chr11:71674000-71710600	Weak transcription	Brain Germinal Matrix	brain
9	chr11:71677000-71709400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:71677200-71736600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:71678000-71710600	Weak transcription	HMEC	breast
12	chr11:71681200-71709400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:71684200-71709000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:71689000-71711800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:71695200-71709400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:71695200-71709400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:71695200-71710600	Weak transcription	Esophagus	oesophagus
18	chr11:71695400-71707600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:71695400-71709800	Weak transcription	Dnd41	blood
20	chr11:71695400-71712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:71695400-71713000	Weak transcription	Psoas Muscle	Psoas
22	chr11:71698600-71708800	Strong transcription	A549	lung
23	chr11:71699400-71707800	Weak transcription	Hela-S3	cervix
24	chr11:71699400-71710200	Weak transcription	NHDF-Ad	bronchial
25	chr11:71699600-71707800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:71699600-71710000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:71699600-71710000	Weak transcription	NHLF	lung
28	chr11:71699600-71712400	Weak transcription	Aorta	Aorta
29	chr11:71699800-71709200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:71701000-71708400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:71701200-71708600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:71701200-71709200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:71702000-71708000	Weak transcription	Fetal Thymus	thymus
34	chr11:71702000-71710200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:71702200-71706800	Weak transcription	Brain Substantia Nigra	brain
36	chr11:71702200-71707000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr11:71702200-71707200	Enhancers	Primary B cells from peripheral blood	blood
38	chr11:71702200-71707800	Weak transcription	Spleen	Spleen
39	chr11:71702200-71709200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:71702200-71709600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:71702200-71709800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:71702200-71710000	Weak transcription	Pancreas	Pancrea
43	chr11:71702200-71710200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:71702200-71710200	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:71702200-71712600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:71702200-71713000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:71702200-71713400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:71702200-71713800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:71702400-71707200	Weak transcription	Fetal Intestine Large	intestine
50	chr11:71702400-71709400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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