Variant report

Variant	rs2374638
Chromosome Location	chr11:85354514-85354515
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:85350575-85356578	MCF10A-Er-Src	breast:	n/a	n/a
2	RCOR1	chr11:85354483-85354667	K562	blood:	n/a	n/a
3	NFIC	chr11:85354302-85354717	ECC-1	luminal epithelium:	n/a	n/a
4	NFIC	chr11:85354266-85354685	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr11:85354219-85354686	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr11:85354196-85355245	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:85354204-85354662	PANC-1	pancreas:	n/a	n/a
8	RCOR1	chr11:85354467-85354752	K562	blood:	n/a	n/a
9	TCF7L2	chr11:85354173-85354673	PANC-1	pancreas:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85325901..85327407-chr11:85354241..85355980,2	MCF-7	breast:
2	chr11:85349221..85351425-chr11:85352555..85354593,3	MCF-7	breast:
3	chr11:85339692..85341655-chr11:85354490..85356940,3	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM126A	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11234386	0.89[ASN][1000 genomes]
rs11234387	0.89[ASN][1000 genomes]
rs11234388	0.89[ASN][1000 genomes]
rs11234389	0.84[ASN][1000 genomes]
rs11234390	0.84[ASN][1000 genomes]
rs11234391	0.84[ASN][1000 genomes]
rs17148355	0.89[ASN][1000 genomes]
rs17208525	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17208602	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17208616	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17810701	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17810766	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17810802	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17810855	0.93[ASN][1000 genomes]
rs2276018	0.91[ASN][1000 genomes]
rs2304342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494119	0.94[ASN][1000 genomes]
rs56695336	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57431471	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58631677	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59508078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs616309	0.94[ASN][1000 genomes]
rs645798	0.94[ASN][1000 genomes]
rs72953967	0.85[ASN][1000 genomes]
rs72953982	0.89[ASN][1000 genomes]
rs72953991	0.89[ASN][1000 genomes]
rs72953995	0.94[ASN][1000 genomes]
rs72955904	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72955912	0.90[EUR][1000 genomes]
rs72955918	0.90[EUR][1000 genomes]
rs72955922	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72955939	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72958012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72958014	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72958027	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[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	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85340600-85358200	Weak transcription	Aorta	Aorta
2	chr11:85340800-85358200	Weak transcription	Fetal Stomach	stomach
3	chr11:85340800-85358200	Weak transcription	Right Ventricle	heart
4	chr11:85340800-85358200	Weak transcription	HSMMtube	muscle
5	chr11:85341200-85358000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:85341200-85358000	Weak transcription	NHLF	lung
7	chr11:85341200-85358200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:85341200-85358200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:85341200-85358200	Weak transcription	Spleen	Spleen
10	chr11:85341200-85358400	Weak transcription	Small Intestine	intestine
11	chr11:85342200-85358200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:85345800-85358000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:85346000-85358000	Weak transcription	HMEC	breast
14	chr11:85346000-85358200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:85346000-85358200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:85346000-85358200	Weak transcription	Brain Angular Gyrus	brain
17	chr11:85346000-85358200	Weak transcription	Brain Substantia Nigra	brain
18	chr11:85346000-85358200	Weak transcription	Fetal Lung	lung
19	chr11:85346000-85358200	Weak transcription	NHEK	skin
20	chr11:85346400-85358000	Weak transcription	HepG2	liver
21	chr11:85346400-85358200	Weak transcription	Lung	lung
22	chr11:85346600-85358200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:85346800-85358000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:85346800-85358200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:85347200-85357800	Weak transcription	GM12878-XiMat	blood
26	chr11:85347200-85358200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:85347400-85358000	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:85347400-85358000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:85347600-85358000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:85347600-85358200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:85347600-85358200	Weak transcription	Brain Anterior Caudate	brain
32	chr11:85347800-85358000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:85347800-85358200	Weak transcription	Placenta	Placenta
34	chr11:85348000-85358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:85348200-85358200	Weak transcription	NHDF-Ad	bronchial
36	chr11:85348200-85358400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:85348400-85358000	Weak transcription	Fetal Kidney	kidney
38	chr11:85348400-85358200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:85348400-85358200	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:85348600-85358000	Weak transcription	K562	blood
41	chr11:85348600-85358200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:85348800-85355800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr11:85348800-85358000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:85348800-85358000	Weak transcription	Liver	Liver
45	chr11:85348800-85358000	Weak transcription	A549	lung
46	chr11:85348800-85358400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:85349000-85358200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:85349000-85358400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:85349200-85358000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:85349400-85357800	Weak transcription	Rectal Mucosa Donor 29	rectum

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