Variant report

Variant	rs7924573
Chromosome Location	chr11:119571342-119571343
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:119567595..119569306-chr11:119571218..119572844,2	MCF-7	breast:
2	chr11:119568263..119570489-chr11:119571275..119572812,2	K562	blood:
3	chr11:119546001..119548946-chr11:119570439..119572387,2	MCF-7	breast:
4	chr11:119568589..119571498-chr11:119574354..119576763,2	MCF-7	breast:
5	chr11:119571255..119574750-chr11:119575063..119576895,3	MCF-7	breast:
6	chr11:119563899..119565883-chr11:119570340..119572500,2	MCF-7	breast:
7	chr11:119561359..119563599-chr11:119570255..119571810,2	K562	blood:
8	chr11:119554561..119556794-chr11:119570560..119572885,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110400	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10790332	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10790335	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10892433	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10892434	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1110166	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11217414	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11217415	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11825206	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1467051	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1533051	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2006949	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2015078	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2292293	0.88[CEU][hapmap]
rs3902806	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3935405	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3935406	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4623916	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4936492	0.92[CEU][hapmap]
rs4936493	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4936494	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4936495	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4938708	0.92[CEU][hapmap]
rs4938709	0.81[AMR][1000 genomes]
rs4938710	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4938711	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4938716	0.81[ASN][1000 genomes]
rs6589769	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7110874	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7111290	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs7122134	0.89[CEU][hapmap]
rs715849	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7932832	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7933848	0.92[CEU][hapmap]
rs7945395	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7945424	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7950059	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs885429	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs885430	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs906830	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv468880	chr11:119564496-119588062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv556471	chr11:119564496-119588062	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119556000-119571600	Weak transcription	NHLF	lung
2	chr11:119561000-119580600	Weak transcription	Fetal Kidney	kidney
3	chr11:119561800-119577600	Enhancers	Brain Hippocampus Middle	brain
4	chr11:119562000-119578400	Enhancers	Duodenum Mucosa	Duodenum
5	chr11:119563200-119578400	Genic enhancers	Fetal Intestine Small	intestine
6	chr11:119563600-119574000	Enhancers	Placenta	Placenta
7	chr11:119564200-119578400	Enhancers	Fetal Intestine Large	intestine
8	chr11:119564800-119571800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:119565200-119582600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:119565400-119571400	Weak transcription	NH-A	brain
11	chr11:119565400-119571600	Weak transcription	Primary B cells from cord blood	blood
12	chr11:119565800-119572400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:119567000-119572400	Enhancers	Stomach Mucosa	stomach
14	chr11:119567200-119571800	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr11:119567200-119573200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr11:119567200-119573600	Enhancers	Small Intestine	intestine
17	chr11:119567400-119573400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr11:119567400-119574400	Enhancers	Fetal Muscle Leg	muscle
19	chr11:119567400-119575000	Enhancers	Fetal Muscle Trunk	muscle
20	chr11:119567400-119576600	Weak transcription	Fetal Heart	heart
21	chr11:119567400-119579000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:119567600-119572600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:119567800-119572600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:119567800-119572600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:119568000-119580600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:119568200-119573600	Enhancers	Adipose Nuclei	Adipose
27	chr11:119568400-119571600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:119568400-119571600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr11:119568400-119573800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr11:119568400-119575600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:119568400-119580600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:119568400-119587000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr11:119568600-119572800	Enhancers	Right Ventricle	heart
34	chr11:119568600-119574200	Enhancers	Esophagus	oesophagus
35	chr11:119568600-119574600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:119568600-119580600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:119568600-119580600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:119568600-119590400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr11:119568800-119572000	Enhancers	Left Ventricle	heart
40	chr11:119568800-119574200	Enhancers	HMEC	breast
41	chr11:119568800-119576800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:119569000-119571600	Enhancers	Brain Substantia Nigra	brain
43	chr11:119569200-119571800	Enhancers	Colonic Mucosa	Colon
44	chr11:119569200-119573600	Genic enhancers	NHEK	skin
45	chr11:119569400-119572000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr11:119569600-119574400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:119569800-119572000	Enhancers	Liver	Liver
48	chr11:119569800-119572800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:119569800-119574200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:119569800-119575000	Enhancers	Pancreas	Pancrea

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