Variant report

Variant	rs10741740
Chromosome Location	chr11:18338682-18338683
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	chr11:18338559..18340815-chr11:18429973..18431538,2	K562	blood:
2	chr11:18338584..18340305-chr11:18416073..18417820,2	K562	blood:

Variant related genes	Relation type
ENSG00000134333	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10741743	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10766467	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10766469	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10766471	0.81[EUR][1000 genomes]
rs10832919	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10832920	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10832923	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11024606	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11024613	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11024622	0.83[EUR][1000 genomes]
rs12294486	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2037867	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2305564	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2403254	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3802967	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4150581	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4150589	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4150606	0.82[EUR][1000 genomes]
rs4150628	0.82[EUR][1000 genomes]
rs4150678	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4596	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10741740	GTF2H1	cis	Nerve Tibial	GTEx
rs10741740	GTF2H1	cis	lung	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18311800-18343000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:18317200-18342200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:18327800-18342200	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:18327800-18342200	Weak transcription	HUVEC	blood vessel
5	chr11:18330200-18340000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:18330200-18340800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:18331000-18341000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:18331000-18341600	Weak transcription	Fetal Lung	lung
9	chr11:18331000-18342200	Weak transcription	Right Ventricle	heart
10	chr11:18331600-18341600	Weak transcription	Psoas Muscle	Psoas
11	chr11:18332000-18341800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:18332200-18342200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:18332600-18340000	Weak transcription	Liver	Liver
14	chr11:18332600-18341000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:18332600-18342800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:18332600-18342800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:18332600-18343000	Weak transcription	Lung	lung
18	chr11:18332800-18340800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:18332800-18341000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:18332800-18341800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr11:18332800-18341800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:18332800-18342200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:18332800-18342200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:18332800-18342800	Weak transcription	Fetal Brain Male	brain
25	chr11:18333000-18341600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr11:18333000-18341800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:18333000-18341800	Weak transcription	Thymus	Thymus
28	chr11:18333000-18342000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:18333000-18342000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:18333000-18342000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:18333000-18342200	Weak transcription	Adipose Nuclei	Adipose
32	chr11:18333000-18342400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:18333000-18342400	Weak transcription	Colonic Mucosa	Colon
34	chr11:18333000-18342800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr11:18333000-18342800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:18333200-18342200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:18333600-18341000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:18333800-18340800	Weak transcription	Brain Germinal Matrix	brain
39	chr11:18334000-18341800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:18334400-18339400	Weak transcription	Stomach Mucosa	stomach
41	chr11:18334400-18341200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:18334400-18341200	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:18334400-18341600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:18334400-18341600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:18334400-18342800	Weak transcription	Fetal Thymus	thymus
46	chr11:18334400-18343000	Weak transcription	Esophagus	oesophagus
47	chr11:18334400-18343200	Weak transcription	Pancreas	Pancrea
48	chr11:18334600-18339800	Weak transcription	Dnd41	blood
49	chr11:18334600-18341400	Weak transcription	Fetal Intestine Large	intestine
50	chr11:18334600-18342200	Weak transcription	Brain Angular Gyrus	brain

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