Variant report

Variant	rs11217425
Chromosome Location	chr11:119588640-119588641
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119586554..119590249-chr11:119604143..119607234,3	K562	blood:
2	chr11:119587850..119589350-chr11:119589562..119592404,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10892431	1.00[EUR][1000 genomes]
rs11217383	1.00[TSI][hapmap]
rs11217391	1.00[EUR][1000 genomes]
rs11217398	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11217399	1.00[EUR][1000 genomes]
rs11217400	1.00[EUR][1000 genomes]
rs11217401	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11217403	1.00[EUR][1000 genomes]
rs11217406	1.00[EUR][1000 genomes]
rs11217409	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11217417	1.00[AMR][1000 genomes]
rs11217424	1.00[AMR][1000 genomes]
rs11217485	1.00[EUR][1000 genomes]
rs11217498	1.00[EUR][1000 genomes]
rs11600941	1.00[EUR][1000 genomes]
rs11822242	1.00[EUR][1000 genomes]
rs12279707	1.00[EUR][1000 genomes]
rs12281756	1.00[EUR][1000 genomes]
rs12282037	1.00[EUR][1000 genomes]
rs12295549	1.00[AMR][1000 genomes]
rs12416901	0.81[AFR][1000 genomes]
rs4424680	1.00[EUR][1000 genomes]
rs4533046	1.00[AMR][1000 genomes]
rs4938714	1.00[AMR][1000 genomes]
rs57088022	1.00[EUR][1000 genomes]
rs59997117	1.00[EUR][1000 genomes]
rs60295158	1.00[EUR][1000 genomes]
rs73575046	1.00[EUR][1000 genomes]
rs7927749	1.00[EUR][1000 genomes]
rs7936254	1.00[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	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	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:70 , 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	chr11:119581200-119590600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:119582200-119589000	Enhancers	Duodenum Mucosa	Duodenum
12	chr11:119582200-119593600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:119582800-119589200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr11:119583400-119589400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:119583800-119589200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:119584600-119591600	Weak transcription	Fetal Heart	heart
17	chr11:119584600-119591800	Weak transcription	Placenta	Placenta
18	chr11:119584800-119588800	Weak transcription	Spleen	Spleen
19	chr11:119584800-119592000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:119585200-119591200	Weak transcription	Stomach Mucosa	stomach
21	chr11:119585200-119591800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:119585200-119592000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:119585200-119596600	Weak transcription	Primary B cells from cord blood	blood
24	chr11:119585800-119589200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:119585800-119590400	Weak transcription	Fetal Stomach	stomach
26	chr11:119586000-119588800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:119586000-119590000	Weak transcription	HMEC	breast
28	chr11:119586200-119589400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:119586200-119595200	Genic enhancers	Esophagus	oesophagus
30	chr11:119586400-119589400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:119586400-119589600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:119586400-119590200	Enhancers	Brain Cingulate Gyrus	brain
33	chr11:119586400-119590400	Strong transcription	NHEK	skin
34	chr11:119586400-119597600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr11:119586600-119589000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:119586800-119588800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:119586800-119588800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:119587000-119589200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:119587000-119590400	Enhancers	Brain Substantia Nigra	brain
40	chr11:119587200-119589600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr11:119587200-119590600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:119587400-119589000	Enhancers	Brain Germinal Matrix	brain
43	chr11:119587400-119589200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr11:119587400-119589200	Enhancers	Fetal Brain Male	brain
45	chr11:119587400-119589600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr11:119587400-119590600	Enhancers	Brain Angular Gyrus	brain
47	chr11:119587600-119588800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr11:119587600-119589000	Enhancers	Fetal Brain Female	brain
49	chr11:119587600-119590800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:119587600-119590800	Enhancers	Brain Hippocampus Middle	brain

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