Variant report

Variant	rs62269099
Chromosome Location	chr3:150267818-150267819
allele	A/G
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	chr3:150267489-150267975	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr3:150267443-150268019	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:150264211..150267828-chr3:150269131..150272633,7	MCF-7	breast:
2	chr3:150260773..150268334-chr3:150317152..150324883,17	K562	blood:
3	chr3:150267666..150269542-chr3:150284308..150287158,2	MCF-7	breast:
4	chr3:150267357..150269852-chr3:150293170..150295948,3	K562	blood:
5	chr3:150122822..150130151-chr3:150261910..150267967,8	K562	blood:
6	chr3:150216070..150218049-chr3:150266258..150268754,2	K562	blood:
7	chr3:150259884..150269236-chr3:150319275..150325391,10	MCF-7	breast:

No data

Variant related genes	Relation type
EIF2A	TF binding region
SERP1	TF binding region
ENSG00000198843	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000196428	Chromatin interaction
ENSG00000144895	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4681208	1.00[AFR][1000 genomes]
rs62269087	1.00[AFR][1000 genomes]
rs62269088	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62269100	1.00[AFR][1000 genomes]
rs62269101	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62269102	1.00[AFR][1000 genomes]
rs62283992	1.00[AFR][1000 genomes]
rs62283993	1.00[AFR][1000 genomes]
rs62283994	1.00[AFR][1000 genomes]
rs62284023	1.00[AFR][1000 genomes]
rs62284025	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs62284027	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6765721	0.82[EUR][1000 genomes]
rs6794400	1.00[AFR][1000 genomes]
rs73169829	1.00[AFR][1000 genomes]
rs73169833	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150265000-150272800	Weak transcription	Spleen	Spleen
2	chr3:150265200-150268600	Weak transcription	Pancreas	Pancrea
3	chr3:150265200-150270800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:150265200-150272800	Weak transcription	Lung	lung
5	chr3:150265200-150273200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:150265200-150299400	Weak transcription	Esophagus	oesophagus
7	chr3:150265200-150302800	Weak transcription	Gastric	stomach
8	chr3:150265400-150270600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr3:150265400-150270800	Weak transcription	Left Ventricle	heart
10	chr3:150265400-150271200	Weak transcription	Ovary	ovary
11	chr3:150265400-150271600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:150265400-150279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:150265400-150305800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:150265600-150269200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:150265600-150269800	Weak transcription	Placenta	Placenta
16	chr3:150265600-150270000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:150265600-150270200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:150265600-150270200	Weak transcription	Brain Angular Gyrus	brain
19	chr3:150265600-150270600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr3:150265600-150270800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:150265600-150271000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:150265600-150271200	Weak transcription	Fetal Muscle Leg	muscle
23	chr3:150265600-150271600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:150265600-150272200	Weak transcription	Thymus	Thymus
25	chr3:150265600-150272400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:150265600-150272400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr3:150265600-150273600	Weak transcription	Right Atrium	heart
28	chr3:150265600-150284600	Weak transcription	Right Ventricle	heart
29	chr3:150265600-150293400	Weak transcription	Aorta	Aorta
30	chr3:150265600-150294000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:150265600-150304200	Weak transcription	Fetal Brain Male	brain
32	chr3:150265600-150320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:150265600-150320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr3:150265800-150268400	Weak transcription	Fetal Stomach	stomach
35	chr3:150265800-150270200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:150266000-150268400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr3:150266000-150270000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:150266000-150270200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr3:150266000-150270800	Weak transcription	Fetal Intestine Large	intestine
40	chr3:150266000-150271400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr3:150266000-150271400	Weak transcription	HSMMtube	muscle
42	chr3:150266000-150271600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr3:150266000-150271600	Weak transcription	Fetal Kidney	kidney
44	chr3:150266000-150271600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr3:150266000-150273600	Weak transcription	Brain Substantia Nigra	brain
46	chr3:150266000-150273600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:150266000-150284400	Weak transcription	Brain Anterior Caudate	brain
48	chr3:150266000-150285000	Weak transcription	Colonic Mucosa	Colon
49	chr3:150266000-150304600	Weak transcription	Fetal Heart	heart
50	chr3:150266000-150307600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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