Variant report

Variant	rs74127408
Chromosome Location	chr1:150048419-150048420
allele	C/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:5)
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	NFYB	chr1:150048264-150048464	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150045133..150046720-chr1:150047065..150048856,2	MCF-7	breast:
2	chr1:150039399..150044958-chr1:150046678..150048939,7	K562	blood:
3	chr1:150038983..150041057-chr1:150046382..150049857,3	MCF-7	breast:
4	chr1:150038609..150041088-chr1:150047588..150050887,5	MCF-7	breast:
5	chr1:150047834..150051741-chr1:150120632..150125901,6	MCF-7	breast:

No data

Variant related genes	Relation type
VPS45	TF binding region
ENSG00000023902	Chromatin interaction
ENSG00000136631	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55643510	0.92[AFR][1000 genomes]
rs55989593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58106888	0.92[AFR][1000 genomes]
rs60124736	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60138147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62622370	0.92[AFR][1000 genomes]
rs72692896	0.91[AFR][1000 genomes]
rs74124301	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127416	0.92[AFR][1000 genomes]
rs74127419	0.92[AFR][1000 genomes]
rs74127421	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150040000-150050200	Weak transcription	Spleen	Spleen
2	chr1:150040200-150090800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:150040400-150049800	Weak transcription	Ovary	ovary
4	chr1:150040400-150049800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:150040400-150050000	Weak transcription	Lung	lung
6	chr1:150040400-150056400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:150040400-150061600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:150040400-150078800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:150040400-150082800	Weak transcription	Small Intestine	intestine
10	chr1:150040400-150086800	Weak transcription	Esophagus	oesophagus
11	chr1:150040400-150121400	Weak transcription	Pancreas	Pancrea
12	chr1:150040600-150072200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:150040600-150092000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:150040800-150048800	Weak transcription	Primary B cells from cord blood	blood
15	chr1:150040800-150049000	Weak transcription	Primary T cells from cord blood	blood
16	chr1:150040800-150049800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:150040800-150049800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:150040800-150049800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:150040800-150054400	Weak transcription	Aorta	Aorta
20	chr1:150041000-150048800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:150041000-150049200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:150041000-150049800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:150041000-150049800	Weak transcription	Thymus	Thymus
24	chr1:150041000-150049800	Weak transcription	HSMMtube	muscle
25	chr1:150041000-150053600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:150041000-150064000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr1:150041000-150114400	Weak transcription	Right Ventricle	heart
28	chr1:150041200-150048800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:150041200-150049200	Weak transcription	HepG2	liver
30	chr1:150041200-150049800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:150041200-150054800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:150041400-150048600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:150041400-150048800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:150041400-150049200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:150041400-150049200	Weak transcription	Brain Substantia Nigra	brain
36	chr1:150041400-150049200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:150041400-150049200	Weak transcription	NHLF	lung
38	chr1:150041400-150050000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:150041400-150053600	Weak transcription	Fetal Kidney	kidney
40	chr1:150041400-150055800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:150041400-150056000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:150041400-150066000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:150041400-150067800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr1:150041400-150069200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:150041800-150058200	Strong transcription	Osteobl	bone
46	chr1:150042200-150049200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:150042200-150050200	Weak transcription	Left Ventricle	heart
48	chr1:150042200-150051400	Weak transcription	Fetal Heart	heart
49	chr1:150042200-150073400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:150042200-150086600	Weak transcription	Gastric	stomach

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