Variant report

Variant	rs72616978
Chromosome Location	chr4:128900347-128900348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:128897701..128900746-chr4:128902655..128905080,3	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11940642	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11942726	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[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	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17012836	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17012841	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17012856	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17012870	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17012899	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2007733	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2015987	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2276898	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2276899	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2276900	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35763794	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3733319	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4426798	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4431238	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4470641	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4535346	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4607232	0.81[EUR][1000 genomes]
rs56250604	0.81[EUR][1000 genomes]
rs56699332	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[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57561160	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57645489	0.81[EUR][1000 genomes]
rs57872423	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58225850	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58546713	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58569950	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59117993	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59189441	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59569890	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59815828	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59984114	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60279389	0.81[EUR][1000 genomes]
rs60505265	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60665827	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60930401	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60979346	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61027047	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61300521	0.81[EUR][1000 genomes]
rs6817374	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6822340	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6840241	1.00[EUR][1000 genomes];0.89[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];0.81[ASN][1000 genomes]
rs72616966	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72616967	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72616968	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616969	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72616970	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72616971	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72616972	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72616973	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72616974	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72616975	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72616976	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72616977	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72618806	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72618807	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72618808	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72618809	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72618810	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72618811	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72618812	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72618813	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72618814	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72618815	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72618816	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72618817	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72618818	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618819	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618820	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618821	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618822	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618823	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618824	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618825	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72618826	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618827	1.00[EUR][1000 genomes];0.92[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	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72618831	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72618832	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72618833	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72618834	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72618835	1.00[EUR][1000 genomes];0.87[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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128887400-128905600	Weak transcription	Placenta	Placenta
2	chr4:128887400-128909400	Weak transcription	Ovary	ovary
3	chr4:128887400-128912200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:128887600-128904600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:128887600-128905600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:128887600-128907200	Weak transcription	HSMMtube	muscle
7	chr4:128887600-128910000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:128887600-128920800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:128887600-128933600	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:128887600-128933800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:128887600-128941400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:128887600-128981200	Weak transcription	Psoas Muscle	Psoas
13	chr4:128887800-128905400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:128887800-128912800	Weak transcription	Fetal Brain Male	brain
15	chr4:128887800-128917200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:128887800-128921000	Weak transcription	Fetal Lung	lung
17	chr4:128887800-128930400	Weak transcription	Osteobl	bone
18	chr4:128887800-128933800	Weak transcription	Gastric	stomach
19	chr4:128887800-128940200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:128887800-128941200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:128887800-128951200	Weak transcription	HUVEC	blood vessel
22	chr4:128888400-128905400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:128888400-128913400	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:128888400-128921400	Weak transcription	Brain Anterior Caudate	brain
25	chr4:128888400-128941200	Weak transcription	NHDF-Ad	bronchial
26	chr4:128888400-128956000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:128888600-128933200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:128888800-128905400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:128888800-128905600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:128888800-128914200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:128890200-128933600	Weak transcription	Aorta	Aorta
32	chr4:128890200-128939200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr4:128890200-128950600	Weak transcription	HepG2	liver
34	chr4:128890400-128958600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr4:128890600-128905400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:128892400-128908200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:128892400-128912000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:128893600-128905400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:128893600-128948200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:128893600-128954200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr4:128893600-128955800	Weak transcription	Right Ventricle	heart
42	chr4:128894200-128916200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:128894600-128919400	Weak transcription	Fetal Kidney	kidney
44	chr4:128894800-128917000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:128895200-128905200	Weak transcription	Liver	Liver
46	chr4:128895600-128905400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr4:128895600-128905400	Weak transcription	K562	blood
48	chr4:128895600-128905600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr4:128895800-128900400	Weak transcription	Fetal Intestine Small	intestine
50	chr4:128895800-128903800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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