Variant report

Variant	rs74094992
Chromosome Location	chr1:84385059-84385060
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84383774..84385600-chr1:84394033..84396558,2	K562	blood:
2	chr1:84384711..84387302-chr1:84391335..84393216,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs61378894	1.00[AMR][1000 genomes]
rs74094914	1.00[AMR][1000 genomes]
rs74094993	1.00[AMR][1000 genomes]
rs74094996	1.00[AMR][1000 genomes]
rs74095507	1.00[AMR][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	nsv871551	chr1:84354464-84453223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84351000-84391400	Weak transcription	Fetal Stomach	stomach
2	chr1:84362600-84403200	Weak transcription	Fetal Brain Male	brain
3	chr1:84366400-84392800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:84366800-84399400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:84368000-84390000	Weak transcription	NH-A	brain
6	chr1:84368000-84394200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:84368200-84393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:84368200-84393800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:84368200-84394800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:84368400-84416600	Weak transcription	NHLF	lung
11	chr1:84368400-84428400	Weak transcription	Pancreas	Pancrea
12	chr1:84374200-84393000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:84376200-84392800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:84376800-84405000	Weak transcription	Left Ventricle	heart
15	chr1:84378600-84390200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:84379200-84386000	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:84380800-84387800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:84380800-84392200	Weak transcription	NHEK	skin
19	chr1:84381000-84393400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:84381000-84394800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:84381000-84397400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:84381200-84386600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:84381200-84390000	Weak transcription	Psoas Muscle	Psoas
24	chr1:84382000-84387000	Strong transcription	Brain Germinal Matrix	brain
25	chr1:84382200-84385200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:84382200-84387200	Strong transcription	Fetal Brain Female	brain
27	chr1:84382400-84386200	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr1:84382400-84387000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:84382600-84385600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:84382600-84409800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:84383200-84386000	Weak transcription	Brain Anterior Caudate	brain
32	chr1:84383200-84386000	Weak transcription	Brain Substantia Nigra	brain
33	chr1:84383200-84386000	Weak transcription	NHDF-Ad	bronchial
34	chr1:84383200-84393000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:84383200-84408600	Weak transcription	Adipose Nuclei	Adipose
36	chr1:84383400-84391000	Weak transcription	Brain Angular Gyrus	brain
37	chr1:84383600-84387600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:84384200-84387000	Strong transcription	Fetal Muscle Leg	muscle
39	chr1:84384400-84386600	Strong transcription	Stomach Smooth Muscle	stomach
40	chr1:84384600-84385200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:84384600-84386600	Strong transcription	Brain Hippocampus Middle	brain
42	chr1:84384600-84386600	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:84384800-84386000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:84384800-84388800	Strong transcription	HSMM	muscle
45	chr1:84384800-84406600	Weak transcription	Aorta	Aorta
46	chr1:84385000-84385800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:84385000-84385800	Weak transcription	HSMMtube	muscle
48	chr1:84385000-84386000	Weak transcription	Gastric	stomach
49	chr1:84385000-84386200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:84385000-84386800	Enhancers	K562	blood

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