Variant report

Variant	rs12285030
Chromosome Location	chr11:64844336-64844337
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64835460..64837295-chr11:64843950..64846187,2	K562	blood:
2	chr11:64667954..64670193-chr11:64843590..64845831,2	K562	blood:
3	chr11:64779777..64783339-chr11:64843637..64848045,5	K562	blood:
4	chr11:64807338..64809955-chr11:64842641..64845959,3	K562	blood:
5	chr11:64795265..64796796-chr11:64842573..64844398,2	K562	blood:
6	chr11:64807394..64809869-chr11:64843562..64845185,2	K562	blood:
7	chr11:64780323..64782642-chr11:64844245..64845963,2	MCF-7	breast:
8	chr11:64844285..64846947-chr11:64888337..64891082,3	K562	blood:
9	chr11:64783090..64786003-chr11:64844320..64846596,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149806	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000168061	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12271615	0.82[AFR][1000 genomes]
rs12279247	0.87[AFR][1000 genomes]
rs12280476	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288247	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291307	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35983251	0.95[AFR][1000 genomes]
rs3782095	0.90[AFR][1000 genomes]
rs56368078	0.87[AFR][1000 genomes]
rs57731342	0.87[AFR][1000 genomes]
rs7110646	0.92[AFR][1000 genomes]
rs7926131	0.87[AFR][1000 genomes]
rs7933704	1.00[AMR][1000 genomes]
rs7935441	0.95[AFR][1000 genomes]
rs7936473	0.85[AFR][1000 genomes];1.00[AMR][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64822400-64850800	Weak transcription	Esophagus	oesophagus
2	chr11:64833600-64845600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:64834200-64850600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:64834400-64845000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:64834600-64846200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:64834800-64844800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:64834800-64845000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:64834800-64847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:64835400-64845000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:64837400-64844800	Weak transcription	Hela-S3	cervix
11	chr11:64837400-64848000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr11:64837600-64845000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:64837600-64845600	Weak transcription	Fetal Intestine Large	intestine
14	chr11:64837800-64845000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:64837800-64845400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:64837800-64846800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:64837800-64850800	Weak transcription	Pancreas	Pancrea
18	chr11:64839800-64847800	Weak transcription	HSMM	muscle
19	chr11:64840200-64845000	Weak transcription	GM12878-XiMat	blood
20	chr11:64840200-64845600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr11:64840200-64850800	Weak transcription	Spleen	Spleen
22	chr11:64840800-64845000	Weak transcription	HepG2	liver
23	chr11:64841200-64845200	Weak transcription	HMEC	breast
24	chr11:64841400-64846600	Weak transcription	Fetal Brain Female	brain
25	chr11:64841400-64848400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:64841600-64846000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:64842200-64845200	Weak transcription	Brain Germinal Matrix	brain
28	chr11:64842200-64847800	Weak transcription	HUVEC	blood vessel
29	chr11:64842800-64845600	Weak transcription	NH-A	brain
30	chr11:64842800-64846200	Weak transcription	Placenta	Placenta
31	chr11:64842800-64850200	Weak transcription	Fetal Lung	lung
32	chr11:64843000-64849800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr11:64843000-64849800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:64843000-64849800	Strong transcription	Thymus	Thymus
35	chr11:64843000-64850000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:64843000-64850200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:64843000-64850200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:64843200-64844600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:64843200-64845000	Strong transcription	Dnd41	blood
40	chr11:64843200-64845200	Strong transcription	A549	lung
41	chr11:64843200-64845600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:64843200-64846000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:64843200-64846000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:64843200-64847200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:64843200-64848000	Strong transcription	NHEK	skin
46	chr11:64843200-64849200	Strong transcription	Fetal Muscle Leg	muscle
47	chr11:64843200-64849400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:64843200-64849600	Strong transcription	Fetal Stomach	stomach
49	chr11:64843200-64849800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:64843200-64849800	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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