Variant report

Variant	rs58518248
Chromosome Location	chr1:70906653-70906654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:70906420-70906974	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:70906421-70907504	Hela-S3	cervix:	n/a	n/a
3	SPI1	chr1:70906405-70906848	HL-60	blood:	n/a	n/a
4	GATA2	chr1:70906513-70907387	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr1:70905812-70910297	K562	blood:	n/a	n/a
6	POLR2A	chr1:70905929-70907115	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70904980..70906674-chr1:70909972..70911804,2	K562	blood:

Variant related genes	Relation type
ENSG00000271992	TF binding region
ENSG00000271992	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17131280	1.00[AMR][1000 genomes]
rs17131282	1.00[AMR][1000 genomes]
rs17131286	1.00[AMR][1000 genomes]
rs17131287	1.00[AMR][1000 genomes]
rs17131288	1.00[AMR][1000 genomes]
rs17131289	1.00[AMR][1000 genomes]
rs17131292	1.00[AMR][1000 genomes]
rs2151540	0.94[AFR][1000 genomes]
rs57217591	1.00[AMR][1000 genomes]
rs59320305	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6413468	1.00[AMR][1000 genomes]
rs72916616	1.00[AMR][1000 genomes]
rs72916621	1.00[AMR][1000 genomes]
rs72929301	1.00[AMR][1000 genomes]
rs72931203	1.00[AMR][1000 genomes]
rs72931208	1.00[AMR][1000 genomes]

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	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv871100	chr1:70859397-70928786	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv461828	chr1:70880717-70922360	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv546456	chr1:70880717-70922360	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70877800-70907800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:70878000-70908200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:70878200-70907000	Weak transcription	Psoas Muscle	Psoas
4	chr1:70878200-70909600	Weak transcription	Gastric	stomach
5	chr1:70878400-70907000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:70884400-70909000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:70886400-70906800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:70891400-70907400	Weak transcription	Fetal Stomach	stomach
9	chr1:70892200-70907400	Weak transcription	Fetal Brain Female	brain
10	chr1:70893200-70907800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:70895400-70907000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:70895800-70912000	Weak transcription	Hela-S3	cervix
13	chr1:70897000-70909600	Weak transcription	Pancreas	Pancrea
14	chr1:70898000-70907800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:70898200-70907400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:70898200-70908600	Strong transcription	Liver	Liver
17	chr1:70898400-70908000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:70899600-70906800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:70899600-70908000	Weak transcription	Brain Germinal Matrix	brain
20	chr1:70900000-70906800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:70900000-70907800	Weak transcription	Brain Angular Gyrus	brain
22	chr1:70900200-70907200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:70900200-70913800	Weak transcription	Dnd41	blood
24	chr1:70900200-70914800	Weak transcription	K562	blood
25	chr1:70900400-70908400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:70901800-70906800	Weak transcription	Fetal Intestine Large	intestine
27	chr1:70902000-70907200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:70902000-70908400	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:70902000-70909600	Weak transcription	Lung	lung
30	chr1:70902200-70907200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:70902200-70907200	Weak transcription	Left Ventricle	heart
32	chr1:70903200-70907600	Weak transcription	Brain Substantia Nigra	brain
33	chr1:70903400-70907800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:70904000-70908800	Weak transcription	HepG2	liver
35	chr1:70904600-70907600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:70904600-70915000	Weak transcription	Aorta	Aorta
37	chr1:70904800-70906800	Weak transcription	Adipose Nuclei	Adipose
38	chr1:70904800-70908000	Weak transcription	NHDF-Ad	bronchial
39	chr1:70905000-70907200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:70905000-70908000	Weak transcription	Right Ventricle	heart
41	chr1:70905000-70908200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:70905000-70909600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:70905000-70910000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:70905200-70907000	Weak transcription	Brain Anterior Caudate	brain
45	chr1:70905200-70907800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:70905400-70908000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:70905400-70909400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:70905600-70906800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:70905800-70906800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:70905800-70907000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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