Variant report

Variant	rs2282529
Chromosome Location	chr11:66184140-66184141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66184115-66184207	K562	blood:	n/a	n/a
2	POLR2A	chr11:66183445-66184237	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66184100..66185954-chr11:66186638..66189070,2	MCF-7	breast:
2	chr11:66176168..66179567-chr11:66180663..66184419,5	K562	blood:
3	chr11:66173655..66176306-chr11:66183166..66186139,2	K562	blood:
4	chr11:66183845..66188748-chr11:66244741..66247932,5	MCF-7	breast:
5	chr11:66170818..66173214-chr11:66183976..66185743,2	MCF-7	breast:
6	chr11:66183520..66189580-chr11:66204076..66208200,8	K562	blood:
7	chr11:66182999..66185054-chr11:66303368..66305877,2	K562	blood:

No data

Variant related genes	Relation type
NPAS4	TF binding region
ENSG00000174576	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000254510	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000269990	Chromatin interaction
ENSG00000255517	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11537993	1.00[YRI][hapmap]
rs17496250	1.00[YRI][hapmap]
rs35166611	1.00[YRI][hapmap]
rs3816492	1.00[YRI][hapmap]
rs3867132	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66177400-66185000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:66177600-66184600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:66179200-66185200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:66179400-66185000	Weak transcription	Aorta	Aorta
5	chr11:66179400-66185200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:66180000-66185400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:66180400-66185200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:66182000-66185400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:66182000-66185400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:66182000-66185400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:66182000-66185400	Weak transcription	Brain Angular Gyrus	brain
12	chr11:66182000-66186000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:66182200-66184800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:66182200-66185200	Weak transcription	Fetal Stomach	stomach
15	chr11:66182400-66184400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:66182400-66185000	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:66182800-66185200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:66182800-66185200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:66182800-66185400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:66182800-66185400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:66183000-66184200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:66183000-66185200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:66183000-66185200	Enhancers	Fetal Heart	heart
24	chr11:66183000-66185400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:66183200-66185200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:66183400-66184800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:66183400-66185600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:66183600-66184400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:66183600-66185400	Enhancers	Fetal Brain Male	brain
30	chr11:66183600-66186800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:66183600-66187000	Enhancers	Left Ventricle	heart
32	chr11:66183600-66187200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr11:66183600-66188800	Enhancers	Right Atrium	heart
34	chr11:66183800-66184400	Enhancers	Brain Anterior Caudate	brain
35	chr11:66183800-66184400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:66183800-66185000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:66184000-66184200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr11:66184000-66189000	Enhancers	Right Ventricle	heart

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