Variant report

Variant	rs72618814
Chromosome Location	chr4:128930817-128930818
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:128930239..128932030-chr4:128980834..128982491,2	K562	blood:
2	chr4:128930114..128931638-chr4:128981409..128983986,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138709	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs11940642	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11942726	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11944947	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16997978	0.81[EUR][1000 genomes]
rs17012727	0.81[EUR][1000 genomes]
rs17012743	0.81[EUR][1000 genomes]
rs17012747	0.81[EUR][1000 genomes]
rs17012750	0.81[EUR][1000 genomes]
rs17012788	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17012836	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17012841	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17012856	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17012870	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17012899	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2007733	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2015987	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2276898	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2276899	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2276900	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35763794	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3733319	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4426798	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4431238	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4470641	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4535346	0.90[EUR][1000 genomes]
rs4607232	0.81[EUR][1000 genomes]
rs56250604	0.81[EUR][1000 genomes]
rs56699332	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57257129	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57431280	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57487637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57561160	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57645489	0.81[EUR][1000 genomes]
rs57872423	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58225850	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58546713	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58569950	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59117993	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59189441	0.81[EUR][1000 genomes]
rs59569890	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59815828	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59984114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60279389	0.81[EUR][1000 genomes]
rs60505265	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60665827	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60930401	0.81[EUR][1000 genomes]
rs60979346	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61027047	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61300521	0.81[EUR][1000 genomes]
rs6817374	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6822340	0.88[ASN][1000 genomes]
rs6840241	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6850549	0.81[EUR][1000 genomes]
rs6850726	0.81[EUR][1000 genomes]
rs72616963	0.81[EUR][1000 genomes]
rs72616965	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72616966	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72616967	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72616968	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72616969	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616970	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72616971	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72616972	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72616973	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72616974	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72616975	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72616976	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72616977	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72616978	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72618806	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72618807	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72618808	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72618809	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72618810	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72618811	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72618812	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72618813	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72618815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72618816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72618817	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618818	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618819	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618820	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618821	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618822	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618823	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618824	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618825	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72618826	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618827	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618828	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618829	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618830	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618831	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618832	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618833	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618834	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72618835	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv1019555	chr4:128901614-129088903	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS 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	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128887600-128933600	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:128887600-128933800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:128887600-128941400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:128887600-128981200	Weak transcription	Psoas Muscle	Psoas
5	chr4:128887800-128933800	Weak transcription	Gastric	stomach
6	chr4:128887800-128940200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:128887800-128941200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:128887800-128951200	Weak transcription	HUVEC	blood vessel
9	chr4:128888400-128941200	Weak transcription	NHDF-Ad	bronchial
10	chr4:128888400-128956000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:128888600-128933200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:128890200-128933600	Weak transcription	Aorta	Aorta
13	chr4:128890200-128939200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr4:128890200-128950600	Weak transcription	HepG2	liver
15	chr4:128890400-128958600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr4:128893600-128948200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:128893600-128954200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:128893600-128955800	Weak transcription	Right Ventricle	heart
19	chr4:128895800-128938400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr4:128895800-128944600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:128895800-128953600	Weak transcription	Pancreas	Pancrea
22	chr4:128896800-128951800	Weak transcription	HSMM	muscle
23	chr4:128900200-128943800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr4:128901400-128941400	Weak transcription	Small Intestine	intestine
25	chr4:128905000-128940400	Weak transcription	Brain Germinal Matrix	brain
26	chr4:128906600-128940200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:128908000-128940400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:128908200-128933400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:128908600-128933400	Weak transcription	Adipose Nuclei	Adipose
30	chr4:128911000-128933800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:128912400-128933600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:128912600-128950400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:128914600-128933400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:128917400-128933200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:128917400-128933200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:128917400-128959000	Weak transcription	K562	blood
37	chr4:128917800-128933400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:128917800-128940400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:128918200-128954600	Weak transcription	Brain Angular Gyrus	brain
40	chr4:128919000-128933800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr4:128919000-128939600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr4:128919200-128938400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:128919200-128948200	Weak transcription	Fetal Heart	heart
44	chr4:128919400-128933200	Weak transcription	Fetal Brain Female	brain
45	chr4:128919400-128933200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr4:128921200-128939200	Weak transcription	Left Ventricle	heart
47	chr4:128921200-128941400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:128921800-128931400	Weak transcription	Fetal Intestine Large	intestine
49	chr4:128921800-128933200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr4:128921800-128933200	Weak transcription	Brain Anterior Caudate	brain

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