Variant report

Variant	rs4325171
Chromosome Location	chr1:173417642-173417643
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173416986..173418856-chr1:173445427..173447378,2	K562	blood:
2	chr1:173411324..173413995-chr1:173416613..173418814,2	K562	blood:

Variant related genes	Relation type
ENSG00000117592	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10753081	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10798282	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10912617	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10912618	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4255417	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4276950	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4382766	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4916220	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4916355	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4916358	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4916359	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4916361	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4916362	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4916363	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55654074	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6425231	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6425233	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6696012	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7537938	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7540065	0.87[ASN][1000 genomes]
rs7556003	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9425718	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9425719	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9425723	0.87[ASN][1000 genomes]
rs9425724	0.87[ASN][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:67 , 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	chr1:173400200-173421000	Weak transcription	Psoas Muscle	Psoas
6	chr1:173400200-173422800	Weak transcription	NH-A	brain
7	chr1:173400400-173429000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:173400600-173428800	Weak transcription	Fetal Stomach	stomach
9	chr1:173400800-173420600	Weak transcription	Hela-S3	cervix
10	chr1:173400800-173421000	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:173400800-173422800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:173400800-173429000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:173400800-173429000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:173401000-173418000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:173401000-173421000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:173401000-173421000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:173401000-173422800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:173401000-173428800	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:173401000-173429000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:173401000-173429000	Weak transcription	Left Ventricle	heart
21	chr1:173401200-173422800	Weak transcription	HSMM	muscle
22	chr1:173401800-173429000	Weak transcription	Primary B cells from cord blood	blood
23	chr1:173404200-173429000	Weak transcription	Adipose Nuclei	Adipose
24	chr1:173404200-173429000	Weak transcription	Right Ventricle	heart
25	chr1:173404400-173423000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:173408800-173422800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:173408800-173422800	Weak transcription	HSMMtube	muscle
28	chr1:173408800-173422800	Weak transcription	K562	blood
29	chr1:173408800-173429000	Weak transcription	Brain Substantia Nigra	brain
30	chr1:173408800-173429000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:173409000-173428800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr1:173409000-173428800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:173409000-173429200	Weak transcription	Aorta	Aorta
34	chr1:173411400-173427000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:173411600-173428800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:173413400-173429200	Weak transcription	Placenta	Placenta
37	chr1:173414600-173429000	Weak transcription	Thymus	Thymus
38	chr1:173415000-173418200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:173415000-173422800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:173415000-173424200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:173415000-173424200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:173415600-173429000	Weak transcription	Brain Angular Gyrus	brain
43	chr1:173416000-173418200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:173416000-173420800	Weak transcription	Liver	Liver
45	chr1:173416000-173429000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:173416200-173423600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:173416200-173424400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:173416200-173429000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:173416400-173429000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:173416400-173430000	Weak transcription	Fetal Lung	lung

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