Variant report

Variant	rs73424413
Chromosome Location	chr11:18611416-18611417
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:18611270-18611543	IMR90	lung:	n/a	n/a
2	MAX	chr11:18611310-18611630	K562	blood:	n/a	n/a
3	STAT3	chr11:18611402-18611541	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18599363..18605712-chr11:18606522..18612149,6	MCF-7	breast:
2	chr11:18608525..18612049-chr11:18615119..18618882,10	MCF-7	breast:
3	chr11:18032918..18034516-chr11:18609753..18611706,2	MCF-7	breast:
4	chr11:18608840..18612225-chr11:18653403..18657833,8	MCF-7	breast:
5	chr11:18608086..18610318-chr11:18611041..18613444,3	MCF-7	breast:
6	chr11:18597269..18603847-chr11:18605648..18613112,11	MCF-7	breast:
7	chr11:18546303..18549278-chr11:18609985..18612598,2	K562	blood:
8	chr11:18609259..18612621-chr11:18654534..18657923,6	MCF-7	breast:
9	chr11:18608159..18612115-chr11:18615596..18618860,5	MCF-7	breast:
10	chr11:18547166..18549278-chr11:18610430..18612598,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UEVLD-1	chr11:18610405-18611827	NONHSAT018299
2	lnc-UEVLD-1	chr11:18610405-18611832	NONHSAT018300

No data

Variant related genes	Relation type
UEVLD	TF binding region
ENSG00000256282	Chromatin interaction
ENSG00000074319	Chromatin interaction
ENSG00000129158	Chromatin interaction
ENSG00000179119	Chromatin interaction
ENSG00000151116	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12790143	1.00[ASN][1000 genomes]
rs16935609	0.83[ASN][1000 genomes]
rs2121385	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658558	1.00[ASN][1000 genomes]
rs34242612	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56811637	1.00[ASN][1000 genomes]
rs58804032	0.83[ASN][1000 genomes]
rs58988307	0.83[ASN][1000 genomes]
rs61208217	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61424905	0.83[ASN][1000 genomes]
rs61752314	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106180	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110470	0.83[ASN][1000 genomes]
rs73422545	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73422599	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73422601	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424410	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424436	0.83[ASN][1000 genomes]
rs73424437	0.83[ASN][1000 genomes]
rs73424439	0.83[ASN][1000 genomes]
rs73424445	0.83[ASN][1000 genomes]
rs73424447	0.83[ASN][1000 genomes]
rs73424452	0.83[ASN][1000 genomes]
rs73424463	0.83[ASN][1000 genomes]
rs73424468	0.83[ASN][1000 genomes]
rs73424475	0.83[ASN][1000 genomes]
rs7926511	1.00[ASN][1000 genomes]
rs7936497	0.83[ASN][1000 genomes]
rs7938645	0.83[ASN][1000 genomes]
rs7942526	0.83[ASN][1000 genomes]
rs7951729	0.83[ASN][1000 genomes]
rs872872	0.83[ASN][1000 genomes]
rs872873	0.83[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	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	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
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	esv2761651	chr11:18606832-18621409	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18608800-18612200	Active TSS	A549	lung
2	chr11:18609000-18611800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:18609000-18611800	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr11:18609000-18611800	Active TSS	Fetal Brain Female	brain
5	chr11:18609000-18612000	Active TSS	Colonic Mucosa	Colon
6	chr11:18609200-18612000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:18609200-18612000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr11:18609200-18612200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:18609400-18612000	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr11:18610600-18611800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr11:18610600-18611800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:18610600-18612000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr11:18610600-18613200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:18610800-18611600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:18610800-18611600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:18610800-18611600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:18610800-18611600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:18610800-18611600	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr11:18610800-18611600	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr11:18610800-18611600	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr11:18610800-18611600	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr11:18610800-18611600	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr11:18610800-18611600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr11:18610800-18611600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr11:18610800-18611600	Flanking Active TSS	HSMM	muscle
26	chr11:18610800-18611600	Flanking Active TSS	NHEK	skin
27	chr11:18610800-18611800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:18610800-18611800	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr11:18610800-18611800	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr11:18610800-18611800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr11:18610800-18612000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:18610800-18612000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:18610800-18612200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:18610800-18612400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:18610800-18612400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:18610800-18612600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr11:18610800-18612600	Enhancers	Spleen	Spleen
38	chr11:18610800-18613000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:18610800-18613200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:18611000-18611600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr11:18611000-18611600	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr11:18611000-18611600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr11:18611000-18611600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr11:18611000-18611600	Flanking Active TSS	Fetal Lung	lung
45	chr11:18611000-18611600	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr11:18611000-18611800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:18611000-18612000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:18611000-18612000	Enhancers	Placenta	Placenta
49	chr11:18611000-18612000	Enhancers	Fetal Thymus	thymus
50	chr11:18611000-18612000	Flanking Active TSS	HMEC	breast

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