Variant report

Variant	rs72685352
Chromosome Location	chr4:130009529-130009530
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	chr4:130006908..130009786-chr4:130024045..130026428,2	K562	blood:
2	chr4:130003975..130008687-chr4:130008780..130012075,4	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1030830	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12500341	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12503465	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12504200	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12512345	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17416188	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17416706	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1900397	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2044523	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36195612	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3980331	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4975191	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4975293	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4975294	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55925207	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59540486	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6830023	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6845314	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6847784	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72683669	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72683673	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72683684	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72683693	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72685321	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72685324	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72685328	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72685351	1.00[ASN][1000 genomes]
rs72685353	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685365	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7675408	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs921375	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs921376	0.94[ASN][1000 genomes]
rs921377	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129985200-130012200	Weak transcription	HSMM	muscle
2	chr4:129985200-130013000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:129985200-130013200	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:129987000-130011600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:129991600-130011800	Weak transcription	Hela-S3	cervix
6	chr4:129991800-130012000	Weak transcription	HUVEC	blood vessel
7	chr4:129992600-130012000	Weak transcription	HepG2	liver
8	chr4:129993000-130012000	Weak transcription	Stomach Mucosa	stomach
9	chr4:129995600-130011400	Weak transcription	A549	lung
10	chr4:129997200-130012000	Weak transcription	NHEK	skin
11	chr4:129997600-130010000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:129999200-130012600	Weak transcription	NH-A	brain
13	chr4:129999400-130011400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:130000200-130011400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:130000400-130013000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:130001400-130011200	Weak transcription	NHLF	lung
17	chr4:130001400-130013000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:130001800-130011200	Weak transcription	Fetal Heart	heart
19	chr4:130001800-130012000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:130001800-130013000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:130002000-130011800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:130002000-130012600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:130002000-130013200	Weak transcription	Brain Angular Gyrus	brain
24	chr4:130002200-130012000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:130002200-130013400	Weak transcription	Placenta	Placenta
26	chr4:130002600-130009600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:130002600-130011400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr4:130002600-130012200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr4:130002800-130011800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:130002800-130011800	Weak transcription	Spleen	Spleen
31	chr4:130002800-130012000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:130002800-130012800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:130002800-130013000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr4:130002800-130013000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr4:130002800-130013000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:130002800-130013000	Weak transcription	Gastric	stomach
37	chr4:130002800-130013000	Weak transcription	Pancreas	Pancrea
38	chr4:130002800-130013000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr4:130002800-130013000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr4:130002800-130013200	Weak transcription	Aorta	Aorta
41	chr4:130002800-130013800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:130002800-130013800	Weak transcription	Ovary	ovary
43	chr4:130003000-130009600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr4:130003000-130010000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr4:130003000-130010800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr4:130003000-130010800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr4:130003000-130011400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:130003000-130011800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:130003000-130011800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr4:130003000-130011800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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