Variant report

Variant	rs72616973
Chromosome Location	chr4:128881034-128881035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:128873444..128875920-chr4:128878684..128882319,5	K562	blood:
2	chr4:128703765..128706191-chr4:128879292..128881259,2	K562	blood:
3	chr4:128877527..128880519-chr4:128880983..128883829,3	MCF-7	breast:
4	chr4:128838666..128841299-chr4:128880030..128882225,3	K562	blood:
5	chr4:128879507..128881375-chr4:128884857..128886509,2	K562	blood:
6	chr4:128873444..128875829-chr4:128878982..128882319,5	K562	blood:

Variant related genes	Relation type
ENSG00000164073	Chromatin interaction
ENSG00000164070	Chromatin interaction
ENSG00000164074	Chromatin interaction

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs11940642	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11942726	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11944947	0.87[ASN][1000 genomes]
rs16997978	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17012727	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17012743	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17012747	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17012750	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17012788	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17012836	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17012841	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17012856	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17012870	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17012899	0.85[ASN][1000 genomes]
rs2007733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2015987	0.85[ASN][1000 genomes]
rs2276898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276900	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35763794	0.90[ASN][1000 genomes]
rs3733319	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4422427	0.80[ASN][1000 genomes]
rs4426798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4431238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4470641	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4508904	0.81[ASN][1000 genomes]
rs4513584	0.80[ASN][1000 genomes]
rs4535346	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4607232	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4618331	0.80[ASN][1000 genomes]
rs5011745	0.90[EUR][1000 genomes]
rs56250604	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56699332	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56893530	0.80[ASN][1000 genomes]
rs57257129	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57431280	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57487637	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57561160	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57645489	0.81[EUR][1000 genomes]
rs57872423	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58225850	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58546713	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58569950	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58830700	0.83[ASN][1000 genomes]
rs59117993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59189441	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59569890	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59815828	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59984114	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60279389	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60505265	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60665827	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60930401	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60979346	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61027047	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61300521	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6817374	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6822340	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6840241	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6850549	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6850726	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72616956	0.80[ASN][1000 genomes]
rs72616957	0.80[ASN][1000 genomes]
rs72616958	0.80[ASN][1000 genomes]
rs72616959	0.80[ASN][1000 genomes]
rs72616960	0.80[ASN][1000 genomes]
rs72616961	0.80[ASN][1000 genomes]
rs72616962	0.80[ASN][1000 genomes]
rs72616963	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72616965	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72616966	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72616967	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72616968	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72616969	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72616970	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72616971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72616972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616975	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616976	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72616977	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72616978	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72618806	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72618807	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72618808	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72618809	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72618810	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72618811	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72618812	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72618813	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72618814	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72618815	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72618816	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618817	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72618818	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618819	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618820	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618821	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618822	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618823	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618824	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618825	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72618826	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618827	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618828	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618829	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618830	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618831	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618832	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618833	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72618834	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72618835	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv879922	chr4:128554404-128901402	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1801492	chr4:128566686-128934513	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
8	esv3431515	chr4:128657260-128932577	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv532740	chr4:128710011-129035335	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv1033701	chr4:128803159-129095018	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
12	nsv1019193	chr4:128810527-128949320	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv1841203	chr4:128817558-129043809	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv1029890	chr4:128828468-129041302	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
15	esv1817670	chr4:128850073-129012181	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
16	esv1821180	chr4:128850073-129012181	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
17	nsv1018952	chr4:128850790-129082821	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
18	nsv595388	chr4:128853913-129084831	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128831200-128884600	Weak transcription	Spleen	Spleen
2	chr4:128832600-128885200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:128835000-128885200	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:128836800-128884600	Weak transcription	Esophagus	oesophagus
5	chr4:128836800-128885200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:128837000-128885800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:128837400-128885800	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:128837800-128885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:128838400-128885200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:128838400-128885800	Weak transcription	Brain Angular Gyrus	brain
11	chr4:128838800-128885200	Weak transcription	Right Ventricle	heart
12	chr4:128840000-128885800	Weak transcription	Aorta	Aorta
13	chr4:128840600-128885200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:128840800-128885200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:128841600-128885200	Weak transcription	Hela-S3	cervix
16	chr4:128841800-128885200	Weak transcription	Gastric	stomach
17	chr4:128842400-128881200	Weak transcription	Colonic Mucosa	Colon
18	chr4:128842800-128885400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:128842800-128885600	Weak transcription	Psoas Muscle	Psoas
20	chr4:128843000-128885200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:128843000-128885200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:128843000-128885200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:128843000-128885800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr4:128843000-128885800	Weak transcription	Brain Substantia Nigra	brain
25	chr4:128847600-128885800	Weak transcription	Lung	lung
26	chr4:128847800-128885200	Weak transcription	Fetal Lung	lung
27	chr4:128850800-128885000	Weak transcription	Brain Germinal Matrix	brain
28	chr4:128851400-128885200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:128853400-128883400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr4:128855000-128883200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr4:128856600-128885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:128856600-128885800	Weak transcription	Left Ventricle	heart
33	chr4:128858800-128885800	Weak transcription	NHDF-Ad	bronchial
34	chr4:128859800-128884600	Weak transcription	Fetal Brain Male	brain
35	chr4:128862600-128885800	Weak transcription	HUVEC	blood vessel
36	chr4:128863400-128884800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:128864000-128884800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr4:128865000-128885800	Weak transcription	Small Intestine	intestine
39	chr4:128865200-128882400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:128865200-128884000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr4:128865800-128884800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:128866400-128883400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:128867400-128884600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:128869600-128883200	Weak transcription	Pancreas	Pancrea
45	chr4:128869600-128885800	Weak transcription	Ovary	ovary
46	chr4:128869800-128885800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:128870000-128884600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:128870000-128884800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:128870200-128885200	Weak transcription	Adipose Nuclei	Adipose
50	chr4:128870200-128885200	Weak transcription	Stomach Smooth Muscle	stomach

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