Variant report

Variant	rs75582964
Chromosome Location	chr1:93251483-93251484
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr1:93250200-93252334	K562	blood:	n/a	n/a
2	MXI1	chr1:93249452-93251597	SK-N-SH	brain:	n/a	n/a
3	E2F6	chr1:93250273-93251529	H1-hESC	embryonic stem cell:	n/a	chr1:93250794-93250803 chr1:93250794-93250806 chr1:93250669-93250678
4	MAX	chr1:93249941-93251539	A549	lung:	n/a	chr1:93251007-93251014
5	CHD1	chr1:93249145-93251508	IMR90	lung:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:93248724..93252766-chr1:93297083..93300077,5	MCF-7	breast:
2	chr1:93213561..93216239-chr1:93249509..93251766,2	K562	blood:
3	chr1:93250896..93252693-chr1:93297527..93299113,2	MCF-7	breast:
4	chr1:93250918..93254010-chr1:93306747..93309482,3	K562	blood:
5	chr1:93251113..93254538-chr1:93261545..93264232,3	K562	blood:
6	chr1:93249024..93254901-chr1:93255339..93260264,13	K562	blood:
7	chr1:93249660..93252667-chr1:93296431..93299077,5	K562	blood:
8	chr1:93250688..93252404-chr1:93256005..93257637,2	MCF-7	breast:
9	chr1:93251020..93253744-chr1:93303793..93305482,2	K562	blood:
10	chr1:93250962..93252670-chr1:93458393..93461376,2	K562	blood:
11	chr1:93249360..93255989-chr1:93295958..93302033,8	K562	blood:
12	chr1:93219197..93221453-chr1:93249271..93251757,2	K562	blood:

No data

Variant related genes	Relation type
EVI5	TF binding region
ENSG00000122406	Chromatin interaction
ENSG00000234202	Chromatin interaction
ENSG00000067208	Chromatin interaction
ENSG00000223896	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	esv3379601	chr1:93249189-93251737	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	nsv947289	chr1:93251307-93276080	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93247800-93252000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:93248000-93251800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:93248600-93251600	Active TSS	NHLF	lung
4	chr1:93249000-93251600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:93249000-93251600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:93249000-93251600	Active TSS	Stomach Smooth Muscle	stomach
7	chr1:93249000-93251800	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr1:93249200-93251600	Active TSS	Rectal Smooth Muscle	rectum
9	chr1:93249200-93251600	Active TSS	Osteobl	bone
10	chr1:93249400-93251600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr1:93249800-93251600	Active TSS	Brain Anterior Caudate	brain
12	chr1:93250000-93251600	Active TSS	Brain Hippocampus Middle	brain
13	chr1:93250000-93251600	Active TSS	Colonic Mucosa	Colon
14	chr1:93250000-93251600	Active TSS	Duodenum Mucosa	Duodenum
15	chr1:93250000-93251600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr1:93250000-93251600	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr1:93250200-93256800	Weak transcription	Fetal Heart	heart
18	chr1:93250600-93251600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:93250800-93251600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr1:93250800-93252600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr1:93251000-93251600	Enhancers	Primary hematopoietic stem cells	blood
22	chr1:93251000-93251600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:93251000-93251600	Flanking Active TSS	Placenta	Placenta
24	chr1:93251000-93251600	Active TSS	Right Atrium	heart
25	chr1:93251200-93251600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:93251200-93251600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:93251200-93251600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:93251200-93251600	Bivalent Enhancer	Fetal Thymus	thymus
29	chr1:93251200-93251600	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr1:93251200-93257200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:93251200-93257400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:93251200-93257400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:93251400-93251600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:93251400-93251600	Active TSS	Muscle Satellite Cultured Cells	--
35	chr1:93251400-93251600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:93251400-93251600	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr1:93251400-93251600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr1:93251400-93251600	Enhancers	Fetal Muscle Trunk	muscle
39	chr1:93251400-93251600	Active TSS	Hela-S3	cervix
40	chr1:93251400-93251600	Active TSS	HMEC	breast
41	chr1:93251400-93251800	Enhancers	Primary B cells from cord blood	blood
42	chr1:93251400-93251800	Active TSS	HUVEC	blood vessel
43	chr1:93251400-93252000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:93251400-93252000	Weak transcription	Stomach Mucosa	stomach
45	chr1:93251400-93252000	Active TSS	K562	blood
46	chr1:93251400-93252200	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr1:93251400-93252200	Enhancers	Primary B cells from peripheral blood	blood
48	chr1:93251400-93252200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:93251400-93255200	Weak transcription	Spleen	Spleen
50	chr1:93251400-93255400	Weak transcription	HepG2	liver

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