Variant report

Variant	rs73016142
Chromosome Location	chr1:150023719-150023720
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr1:150023689-150024180	MCF10A-Er-Src	breast:	n/a	chr1:150024008-150024019

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149875657..149877242-chr1:150022210..150023854,2	K562	blood:
2	chr1:150017927..150020825-chr1:150022056..150024781,3	MCF-7	breast:
3	chr1:149858084..149861835-chr1:150019287..150023815,6	K562	blood:
4	chr1:150023241..150025135-chr1:150032252..150034875,2	K562	blood:
5	chr1:149933269..149934631-chr1:150022302..150023872,9	MCF-7	breast:
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	chr1:149911189..149913982-chr1:150022742..150024271,2	MCF-7	breast:
10	chr1:149949620..149952507-chr1:150022418..150024343,2	MCF-7	breast:
11	chr1:149858368..149864477-chr1:150018495..150024155,9	K562	blood:
12	chr1:149855348..149862315-chr1:150015478..150024375,18	MCF-7	breast:
13	chr1:150022553..150024320-chr1:150157694..150159816,2	K562	blood:
14	chr1:149993776..149995889-chr1:150021300..150024191,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223945	TF binding region
ENSG00000136631	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000184260	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10157931	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158314	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10494262	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10494265	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10788868	1.00[EUR][1000 genomes]
rs13374103	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13375753	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1545761	1.00[EUR][1000 genomes]
rs16833279	1.00[EUR][1000 genomes]
rs16833591	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16835652	1.00[EUR][1000 genomes]
rs3118123	1.00[EUR][1000 genomes]
rs57788184	1.00[EUR][1000 genomes]
rs57819791	1.00[EUR][1000 genomes]
rs59821426	1.00[EUR][1000 genomes]
rs60109648	1.00[EUR][1000 genomes]
rs60307722	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60616215	1.00[EUR][1000 genomes]
rs6587748	1.00[EUR][1000 genomes]
rs6671747	1.00[EUR][1000 genomes]
rs6689338	1.00[EUR][1000 genomes]
rs6689495	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73011246	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73011248	1.00[EUR][1000 genomes]
rs73011264	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73011271	1.00[EUR][1000 genomes]
rs73011273	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73011380	1.00[EUR][1000 genomes]
rs73016148	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124337	1.00[EUR][1000 genomes]
rs74124339	1.00[EUR][1000 genomes]
rs7520088	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7527755	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs946521	1.00[EUR][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149996600-150037000	Weak transcription	Left Ventricle	heart
2	chr1:150016800-150024000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:150017600-150026200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:150017600-150037600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:150017800-150025800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:150017800-150026000	Weak transcription	Osteobl	bone
7	chr1:150018000-150031600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:150018000-150033400	Weak transcription	Fetal Stomach	stomach
9	chr1:150018200-150038600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:150018400-150024000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:150022200-150025800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:150022800-150025800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:150022800-150025800	Weak transcription	GM12878-XiMat	blood
14	chr1:150022800-150032400	Weak transcription	Fetal Intestine Small	intestine
15	chr1:150022800-150037200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:150022800-150038600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:150023000-150024000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:150023000-150025800	Weak transcription	Adipose Nuclei	Adipose
19	chr1:150023000-150026000	Weak transcription	Brain Anterior Caudate	brain
20	chr1:150023000-150028600	Weak transcription	Primary B cells from cord blood	blood
21	chr1:150023000-150033600	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:150023400-150023800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:150023400-150023800	Weak transcription	A549	lung
24	chr1:150023400-150024200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:150023400-150025400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:150023600-150024000	Enhancers	NHEK	skin
27	chr1:150023600-150024600	Enhancers	Muscle Satellite Cultured Cells	--

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