Variant report

Variant	rs73023584
Chromosome Location	chr1:173414489-173414490
allele	C/T
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	KAT2A	chr1:173414410-173414512	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173413534..173415486-chr1:173446104..173447975,2	K562	blood:
2	chr1:173414044..173416601-chr1:173422234..173425092,2	K562	blood:

Variant related genes	Relation type
ENSG00000203739	TF binding region
ENSG00000117592	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs35224644	1.00[AMR][1000 genomes]
rs35679908	1.00[AMR][1000 genomes]
rs35749242	1.00[AMR][1000 genomes]
rs35899698	1.00[AMR][1000 genomes]
rs56868943	1.00[AMR][1000 genomes]
rs57832781	1.00[AMR][1000 genomes]
rs58307514	1.00[AMR][1000 genomes]
rs58425101	1.00[AMR][1000 genomes]
rs61075186	1.00[AMR][1000 genomes]
rs6667110	1.00[AMR][1000 genomes]
rs6691086	1.00[AMR][1000 genomes]
rs73025454	1.00[AMR][1000 genomes]
rs73025457	1.00[AMR][1000 genomes]
rs73025474	1.00[AMR][1000 genomes]
rs73025495	1.00[AMR][1000 genomes]
rs73027303	1.00[AMR][1000 genomes]
rs73027364	1.00[AMR][1000 genomes]
rs73027398	1.00[AMR][1000 genomes]
rs73029321	1.00[AMR][1000 genomes]
rs73041128	1.00[AMR][1000 genomes]
rs7539992	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	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173376200-173429000	Weak transcription	Gastric	stomach
2	chr1:173387600-173429000	Weak transcription	Lung	lung
3	chr1:173391800-173429000	Weak transcription	Ovary	ovary
4	chr1:173399400-173424200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:173399800-173415400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:173399800-173415600	Weak transcription	Liver	Liver
7	chr1:173400200-173421000	Weak transcription	Psoas Muscle	Psoas
8	chr1:173400200-173422800	Weak transcription	NH-A	brain
9	chr1:173400400-173429000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr1:173400600-173428800	Weak transcription	Fetal Stomach	stomach
11	chr1:173400800-173420600	Weak transcription	Hela-S3	cervix
12	chr1:173400800-173421000	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:173400800-173422800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:173400800-173429000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:173400800-173429000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:173401000-173415600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:173401000-173418000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:173401000-173421000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:173401000-173421000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:173401000-173422800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:173401000-173428800	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:173401000-173429000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:173401000-173429000	Weak transcription	Left Ventricle	heart
24	chr1:173401200-173422800	Weak transcription	HSMM	muscle
25	chr1:173401800-173429000	Weak transcription	Primary B cells from cord blood	blood
26	chr1:173404200-173429000	Weak transcription	Adipose Nuclei	Adipose
27	chr1:173404200-173429000	Weak transcription	Right Ventricle	heart
28	chr1:173404400-173423000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:173408800-173415000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:173408800-173415400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:173408800-173422800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:173408800-173422800	Weak transcription	HSMMtube	muscle
33	chr1:173408800-173422800	Weak transcription	K562	blood
34	chr1:173408800-173429000	Weak transcription	Brain Substantia Nigra	brain
35	chr1:173408800-173429000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:173409000-173415600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:173409000-173428800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr1:173409000-173428800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:173409000-173429200	Weak transcription	Aorta	Aorta
40	chr1:173411400-173415400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr1:173411400-173415800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:173411400-173427000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:173411600-173414600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:173411600-173414600	Weak transcription	Brain Angular Gyrus	brain
45	chr1:173411600-173428800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:173412800-173414600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr1:173412800-173414600	Enhancers	Thymus	Thymus
48	chr1:173412800-173414800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr1:173412800-173415000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr1:173412800-173415000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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