Variant report

Variant	rs12283002
Chromosome Location	chr11:67031260-67031261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67030112-67031335	U87	brain:	n/a	n/a
2	CTCF	chr11:67028793-67031439	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr11:67030112-67031379	U87	brain:	n/a	n/a
4	MAZ	chr11:67029807-67031276	IMR90	lung:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67028634..67031744-chr11:67145224..67149338,6	MCF-7	breast:
2	chr11:67029423..67031662-chr11:67157371..67160251,3	MCF-7	breast:
3	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
4	chr11:67028872..67031497-chr11:67138430..67141652,4	K562	blood:
5	chr11:66885158..66886682-chr11:67030764..67032501,2	K562	blood:
6	chr11:67029009..67031852-chr11:67147275..67148992,2	MCF-7	breast:
7	chr11:67030407..67031908-chr11:67079709..67081419,2	K562	blood:
8	chr11:66831912..66834853-chr11:67029417..67031416,2	MCF-7	breast:
9	chr11:67029982..67031836-chr11:67123178..67125332,2	K562	blood:
10	chr11:66820570..66825355-chr11:67030338..67035766,7	MCF-7	breast:
11	chr11:67030751..67032989-chr11:67210893..67212752,2	K562	blood:
12	chr11:67030115..67032131-chr11:67117040..67120376,3	K562	blood:
13	chr11:67029982..67035321-chr11:67120482..67125805,6	K562	blood:

No data

Variant related genes	Relation type
ADRBK1	TF binding region
ENSG00000173156	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000172725	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000175505	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11227753	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11227769	0.89[AFR][1000 genomes]
rs12286610	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12295689	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67024400-67034000	Weak transcription	Small Intestine	intestine
2	chr11:67028600-67031400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:67028600-67032200	Enhancers	Primary hematopoietic stem cells	blood
4	chr11:67028600-67033600	Enhancers	HMEC	breast
5	chr11:67028800-67031400	Enhancers	Primary B cells from cord blood	blood
6	chr11:67028800-67031800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr11:67028800-67034000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:67028800-67034000	Enhancers	Esophagus	oesophagus
9	chr11:67029200-67033600	Weak transcription	Aorta	Aorta
10	chr11:67029200-67033600	Weak transcription	Psoas Muscle	Psoas
11	chr11:67029400-67031800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr11:67029400-67033400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:67029400-67033400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:67029600-67031600	Enhancers	Placenta	Placenta
15	chr11:67029600-67033200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:67029800-67031600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr11:67029800-67033600	Enhancers	Fetal Thymus	thymus
18	chr11:67029800-67034000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr11:67030000-67031400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:67030000-67031600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr11:67030200-67032200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:67030200-67033200	Weak transcription	Ovary	ovary
23	chr11:67030400-67031400	Enhancers	HSMMtube	muscle
24	chr11:67030400-67031600	Enhancers	NHDF-Ad	bronchial
25	chr11:67030400-67033200	Weak transcription	Fetal Brain Female	brain
26	chr11:67030400-67033400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:67030600-67031400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:67030600-67032800	Weak transcription	Fetal Brain Male	brain
29	chr11:67030600-67033200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:67030600-67033400	Weak transcription	Brain Germinal Matrix	brain
31	chr11:67030600-67033400	Weak transcription	Brain Substantia Nigra	brain
32	chr11:67030600-67033400	Weak transcription	Fetal Kidney	kidney
33	chr11:67030600-67033600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:67030600-67034000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:67030800-67031400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr11:67030800-67031400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr11:67030800-67031400	Enhancers	HSMM	muscle
38	chr11:67030800-67031400	Enhancers	Osteobl	bone
39	chr11:67030800-67033000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:67030800-67033200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr11:67030800-67033200	Weak transcription	Brain Anterior Caudate	brain
42	chr11:67030800-67033200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:67030800-67033200	Weak transcription	Fetal Heart	heart
44	chr11:67030800-67033200	Weak transcription	Fetal Intestine Large	intestine
45	chr11:67030800-67033200	Weak transcription	Fetal Lung	lung
46	chr11:67030800-67033200	Weak transcription	Fetal Stomach	stomach
47	chr11:67030800-67033200	Weak transcription	Right Ventricle	heart
48	chr11:67030800-67033200	Weak transcription	Stomach Mucosa	stomach
49	chr11:67030800-67033400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:67030800-67033400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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