Variant report

Variant	rs72667739
Chromosome Location	chr4:87877499-87877500
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87875765..87890159-chr4:87922878..87933002,25	K562	blood:
2	chr4:87872106..87875021-chr4:87875447..87878052,2	K562	blood:
3	chr4:87876506..87878557-chr4:87886269..87888945,2	K562	blood:
4	chr4:87865631..87867433-chr4:87876659..87878502,2	K562	blood:
5	chr4:87860293..87862516-chr4:87877340..87879546,2	MCF-7	breast:
6	chr4:87876640..87879559-chr4:87894378..87897359,2	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10015639	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1010902	0.87[EUR][1000 genomes]
rs1010903	0.88[EUR][1000 genomes]
rs10516785	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10516786	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11097124	0.81[EUR][1000 genomes]
rs1447994	0.86[EUR][1000 genomes]
rs17012170	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17012200	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012213	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012216	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17012234	0.87[ASN][1000 genomes]
rs17701999	0.81[ASN][1000 genomes]
rs17751427	0.94[EUR][1000 genomes]
rs17751557	0.95[EUR][1000 genomes]
rs17752307	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1985944	0.88[EUR][1000 genomes]
rs2053771	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4693153	0.95[EUR][1000 genomes]
rs4693154	0.95[EUR][1000 genomes]
rs4693795	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4693801	0.87[ASN][1000 genomes]
rs55698195	0.86[EUR][1000 genomes]
rs55787557	0.81[ASN][1000 genomes]
rs55831707	0.95[EUR][1000 genomes]
rs55851914	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55879154	0.87[ASN][1000 genomes]
rs55913164	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56023922	0.83[ASN][1000 genomes]
rs56201068	0.86[EUR][1000 genomes]
rs56201818	0.81[ASN][1000 genomes]
rs56378441	0.86[ASN][1000 genomes]
rs56390363	0.86[ASN][1000 genomes]
rs56406125	0.86[ASN][1000 genomes]
rs61651372	0.95[EUR][1000 genomes]
rs6531941	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72667703	0.88[EUR][1000 genomes]
rs72667705	0.87[EUR][1000 genomes]
rs72667716	0.95[EUR][1000 genomes]
rs72667721	0.95[EUR][1000 genomes]
rs72667724	0.95[EUR][1000 genomes]
rs72667727	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72667735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667736	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667741	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72667747	0.87[ASN][1000 genomes]
rs72667748	0.87[ASN][1000 genomes]
rs72667750	0.87[ASN][1000 genomes]
rs72667751	0.86[ASN][1000 genomes]
rs72667752	0.86[ASN][1000 genomes]
rs72667753	0.86[ASN][1000 genomes]
rs72667754	0.86[ASN][1000 genomes]
rs72667759	0.80[ASN][1000 genomes]
rs7665282	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7682652	0.87[ASN][1000 genomes]
rs7695426	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87857600-87882000	Weak transcription	Spleen	Spleen
2	chr4:87857800-87880200	Weak transcription	HSMM	muscle
3	chr4:87858600-87881000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:87861000-87878000	Weak transcription	HMEC	breast
5	chr4:87861400-87880800	Weak transcription	Aorta	Aorta
6	chr4:87861800-87878000	Weak transcription	Osteobl	bone
7	chr4:87861800-87880000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:87861800-87880600	Weak transcription	Fetal Kidney	kidney
9	chr4:87864000-87878000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:87864400-87880600	Weak transcription	Gastric	stomach
11	chr4:87864400-87880800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:87868200-87880600	Weak transcription	Lung	lung
13	chr4:87868200-87881200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:87868400-87878200	Weak transcription	Primary B cells from cord blood	blood
15	chr4:87868400-87880000	Weak transcription	Thymus	Thymus
16	chr4:87868400-87880800	Weak transcription	Pancreas	Pancrea
17	chr4:87868400-87881400	Weak transcription	Colonic Mucosa	Colon
18	chr4:87868400-87891800	Weak transcription	Esophagus	oesophagus
19	chr4:87868600-87878400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:87868600-87886800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:87868600-87898000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:87869000-87880800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:87869200-87878200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:87869400-87881800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:87869600-87881200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:87869600-87882000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:87869600-87886200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:87869800-87880600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:87869800-87880800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr4:87869800-87880800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:87869800-87888000	Weak transcription	HUVEC	blood vessel
32	chr4:87869800-87894000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr4:87870200-87879600	Weak transcription	Stomach Mucosa	stomach
34	chr4:87870200-87880600	Weak transcription	Brain Substantia Nigra	brain
35	chr4:87870200-87880800	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:87871200-87878000	Strong transcription	Placenta	Placenta
37	chr4:87871600-87878600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:87871600-87881800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:87872000-87880800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:87872000-87881800	Weak transcription	Ovary	ovary
41	chr4:87872200-87878200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:87872200-87879600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr4:87872400-87880000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:87872400-87880800	Weak transcription	Left Ventricle	heart
45	chr4:87872400-87880800	Weak transcription	Right Ventricle	heart
46	chr4:87872400-87882000	Weak transcription	Primary T cells from cord blood	blood
47	chr4:87872600-87878200	Weak transcription	NHDF-Ad	bronchial
48	chr4:87872600-87878400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:87872600-87879600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr4:87872600-87880000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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