Variant report

Variant	rs56794080
Chromosome Location	chr1:150021609-150021610
allele	C/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:149963424..149965359-chr1:150020333..150022815,2	MCF-7	breast:
2	chr1:150019180..150020773-chr1:150021063..150023287,2	MCF-7	breast:
3	chr1:150015530..150017614-chr1:150019646..150022042,2	MCF-7	breast:
4	chr1:149988828..149991415-chr1:150020920..150022808,2	MCF-7	breast:
5	chr1:149858084..149861835-chr1:150019287..150023815,6	K562	blood:
6	chr1:149856755..149861735-chr1:150014773..150024288,21	MCF-7	breast:
7	chr1:150020211..150024864-chr1:150037839..150041365,4	MCF-7	breast:
8	chr1:150020045..150025053-chr1:150028781..150033753,5	MCF-7	breast:
9	chr1:149932228..149936162-chr1:150020648..150023324,4	MCF-7	breast:
10	chr1:149858368..149864477-chr1:150018495..150024155,9	K562	blood:
11	chr1:149907286..149909583-chr1:150020946..150022948,2	K562	blood:
12	chr1:149855348..149862315-chr1:150015478..150024375,18	MCF-7	breast:
13	chr1:149993776..149995889-chr1:150021300..150024191,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184678	Chromatin interaction
ENSG00000014914	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000136631	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11205317	0.82[AFR][1000 genomes]
rs11205319	0.80[AFR][1000 genomes]
rs11205321	0.80[AFR][1000 genomes]
rs12066132	0.80[AFR][1000 genomes]
rs12066293	0.80[AFR][1000 genomes]
rs12067422	0.80[AFR][1000 genomes]
rs28753817	0.80[AFR][1000 genomes]
rs72692865	0.80[AFR][1000 genomes]
rs7530922	0.80[AFR][1000 genomes]
rs7550323	0.80[AFR][1000 genomes]
rs9662055	0.80[AFR][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	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases
2	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv947321	chr1:150007387-150030042	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149985600-150022000	Weak transcription	Brain Substantia Nigra	brain
2	chr1:149996600-150037000	Weak transcription	Left Ventricle	heart
3	chr1:150003800-150022400	Weak transcription	Fetal Intestine Small	intestine
4	chr1:150006600-150022400	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:150016800-150024000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:150017600-150022400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:150017600-150026200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:150017600-150037600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:150017800-150025800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:150017800-150026000	Weak transcription	Osteobl	bone
11	chr1:150018000-150022600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:150018000-150031600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:150018000-150033400	Weak transcription	Fetal Stomach	stomach
14	chr1:150018200-150022400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:150018200-150038600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:150018400-150022400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:150018400-150024000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:150018600-150022400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:150018600-150022800	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:150019400-150023200	Weak transcription	A549	lung
21	chr1:150021600-150022200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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