Variant report

Variant	rs360054
Chromosome Location	chr11:9712726-9712727
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	chr11:9711206..9713644-chr11:9723105..9725136,2	K562	blood:
2	chr11:9708443..9711288-chr11:9711524..9713112,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10219178	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10770056	0.81[ASN][1000 genomes]
rs12281578	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1836639	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2117698	0.82[ASN][1000 genomes]
rs2117699	0.82[ASN][1000 genomes]
rs360047	0.83[ASN][1000 genomes]
rs360049	0.85[ASN][1000 genomes]
rs360051	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4548612	0.91[ASN][1000 genomes]
rs4910489	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4993191	0.82[ASN][1000 genomes]
rs56096143	0.83[EUR][1000 genomes]
rs7925177	0.88[ASN][1000 genomes]
rs7932792	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs892851	0.82[ASN][1000 genomes]
rs892852	0.82[ASN][1000 genomes]
rs892856	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9686800-9716400	Weak transcription	Ovary	ovary
2	chr11:9701000-9712800	Weak transcription	Small Intestine	intestine
3	chr11:9703800-9714400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr11:9704200-9723600	Weak transcription	HepG2	liver
5	chr11:9709600-9715600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:9709800-9713000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:9709800-9713000	Enhancers	Left Ventricle	heart
8	chr11:9710200-9758400	Weak transcription	Psoas Muscle	Psoas
9	chr11:9710400-9732800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:9710600-9717000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:9710600-9722000	Weak transcription	Fetal Brain Female	brain
12	chr11:9711000-9717000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:9711200-9713000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:9711200-9713400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:9711200-9715400	Enhancers	HMEC	breast
16	chr11:9711200-9715400	Enhancers	NHEK	skin
17	chr11:9711200-9715600	Enhancers	Primary hematopoietic stem cells	blood
18	chr11:9711200-9732800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:9711400-9712800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:9711400-9713000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:9711400-9713000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:9711400-9713400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:9711400-9713600	Enhancers	Primary B cells from cord blood	blood
24	chr11:9711400-9713600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:9711400-9714000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:9711400-9714200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:9711400-9714400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:9711400-9715400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:9711400-9715600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:9711400-9715600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:9711400-9715600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:9711400-9715600	Enhancers	Brain Anterior Caudate	brain
33	chr11:9711400-9715800	Weak transcription	Primary T cells from cord blood	blood
34	chr11:9711400-9715800	Enhancers	Brain Hippocampus Middle	brain
35	chr11:9711400-9715800	Weak transcription	Hela-S3	cervix
36	chr11:9711400-9717000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:9711400-9718800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:9711400-9754400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:9711600-9712800	Weak transcription	Fetal Intestine Large	intestine
40	chr11:9711600-9712800	Weak transcription	A549	lung
41	chr11:9711600-9713000	Weak transcription	Stomach Mucosa	stomach
42	chr11:9711600-9713000	Weak transcription	NHLF	lung
43	chr11:9711600-9713200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:9711600-9713200	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr11:9711600-9713200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:9711600-9713200	Weak transcription	Fetal Intestine Small	intestine
47	chr11:9711600-9713400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:9711600-9714000	Enhancers	GM12878-XiMat	blood
49	chr11:9711600-9714200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:9711600-9714600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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