Variant report

Variant	rs11217424
Chromosome Location	chr11:119587561-119587562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:119586554..119590249-chr11:119604143..119607234,3	K562	blood:
2	chr11:119586160..119588089-chr11:119597463..119599607,2	MCF-7	breast:
3	chr11:119582567..119584889-chr11:119586809..119588418,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110400	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11217417	1.00[AMR][1000 genomes]
rs11217425	1.00[AMR][1000 genomes]
rs12295549	1.00[AMR][1000 genomes]
rs4533046	1.00[AMR][1000 genomes]
rs4938714	1.00[AMR][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	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
6	nsv1051769	chr11:119572865-119630769	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119568600-119590400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:119572600-119592000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:119573000-119591800	Weak transcription	Left Ventricle	heart
4	chr11:119574000-119597200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:119575200-119591600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:119579600-119589200	Genic enhancers	Fetal Intestine Small	intestine
7	chr11:119580800-119597000	Weak transcription	Lung	lung
8	chr11:119581000-119591600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:119581000-119591600	Weak transcription	Colonic Mucosa	Colon
10	chr11:119581200-119588400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:119581200-119590600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:119582200-119589000	Enhancers	Duodenum Mucosa	Duodenum
13	chr11:119582200-119593600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:119582400-119587800	Enhancers	Fetal Intestine Large	intestine
15	chr11:119582800-119587600	Weak transcription	Fetal Brain Female	brain
16	chr11:119582800-119589200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr11:119583400-119589400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:119583600-119588000	Weak transcription	Fetal Kidney	kidney
19	chr11:119583800-119588000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:119583800-119588400	Weak transcription	Brain Anterior Caudate	brain
21	chr11:119583800-119589200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:119584000-119587600	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:119584600-119587600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:119584600-119591600	Weak transcription	Fetal Heart	heart
25	chr11:119584600-119591800	Weak transcription	Placenta	Placenta
26	chr11:119584800-119588400	Enhancers	HepG2	liver
27	chr11:119584800-119588800	Weak transcription	Spleen	Spleen
28	chr11:119584800-119592000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:119585200-119588600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:119585200-119591200	Weak transcription	Stomach Mucosa	stomach
31	chr11:119585200-119591800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:119585200-119592000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:119585200-119596600	Weak transcription	Primary B cells from cord blood	blood
34	chr11:119585400-119587800	Weak transcription	Gastric	stomach
35	chr11:119585400-119587800	Weak transcription	Right Ventricle	heart
36	chr11:119585800-119588400	Weak transcription	Fetal Thymus	thymus
37	chr11:119585800-119589200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:119585800-119590400	Weak transcription	Fetal Stomach	stomach
39	chr11:119586000-119587800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:119586000-119588800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:119586000-119590000	Weak transcription	HMEC	breast
42	chr11:119586200-119587800	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:119586200-119589400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:119586200-119595200	Genic enhancers	Esophagus	oesophagus
45	chr11:119586400-119589400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:119586400-119589600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:119586400-119590200	Enhancers	Brain Cingulate Gyrus	brain
48	chr11:119586400-119590400	Strong transcription	NHEK	skin
49	chr11:119586400-119597600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr11:119586600-119588000	Weak transcription	Liver	Liver

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