Variant report

Variant	rs72616976
Chromosome Location	chr4:128893884-128893885
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:128887196..128888810-chr4:128892091..128894836,2	K562	blood:
2	chr4:128884953..128888660-chr4:128893870..128897718,5	MCF-7	breast:
3	chr4:128884720..128889599-chr4:128891798..128900197,10	MCF-7	breast:
4	chr4:128883741..128886698-chr4:128892509..128894653,2	K562	blood:

Variant related genes	Relation type
ENSG00000164074	Chromatin interaction
ENSG00000164073	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs11940642	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11942726	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11944947	0.88[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	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17012836	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17012841	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17012856	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17012870	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17012899	0.86[ASN][1000 genomes]
rs2007733	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2015987	0.86[ASN][1000 genomes]
rs2276898	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2276899	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2276900	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35763794	0.91[ASN][1000 genomes]
rs3733319	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4426798	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4431238	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4470641	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4508904	0.80[ASN][1000 genomes]
rs4535346	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4607232	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5011745	0.90[EUR][1000 genomes]
rs56250604	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56699332	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57257129	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57431280	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57487637	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57561160	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57645489	0.81[EUR][1000 genomes]
rs57872423	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58225850	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58546713	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58569950	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58830700	0.83[ASN][1000 genomes]
rs59117993	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59189441	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59569890	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59815828	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59984114	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60279389	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60505265	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60665827	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60930401	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60979346	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61027047	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61300521	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6817374	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6822340	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6840241	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6850549	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6850726	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72616963	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72616965	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72616966	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72616967	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72616968	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72616969	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72616970	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616971	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72616972	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72616973	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72616974	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72616975	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72616977	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72616978	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72618806	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72618807	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72618808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72618809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72618810	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72618811	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72618812	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72618813	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72618814	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72618815	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72618816	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618817	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72618818	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72618819	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72618820	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72618821	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72618822	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72618823	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72618824	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72618825	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72618826	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72618827	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72618828	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72618829	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72618830	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72618831	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72618832	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72618833	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618834	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72618835	0.81[EUR][1000 genomes];0.86[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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128887400-128894200	Weak transcription	Lung	lung
2	chr4:128887400-128905600	Weak transcription	Placenta	Placenta
3	chr4:128887400-128909400	Weak transcription	Ovary	ovary
4	chr4:128887400-128912200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:128887600-128894200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:128887600-128894200	Weak transcription	Fetal Stomach	stomach
7	chr4:128887600-128894400	Weak transcription	Brain Germinal Matrix	brain
8	chr4:128887600-128896000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:128887600-128897200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:128887600-128904600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:128887600-128905600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:128887600-128907200	Weak transcription	HSMMtube	muscle
13	chr4:128887600-128910000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:128887600-128920800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:128887600-128933600	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:128887600-128933800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr4:128887600-128941400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:128887600-128981200	Weak transcription	Psoas Muscle	Psoas
19	chr4:128887800-128894200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:128887800-128894200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr4:128887800-128894200	Weak transcription	Adipose Nuclei	Adipose
22	chr4:128887800-128894200	Weak transcription	Esophagus	oesophagus
23	chr4:128887800-128894200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr4:128887800-128894200	Weak transcription	Thymus	Thymus
25	chr4:128887800-128894400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:128887800-128894400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr4:128887800-128894400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:128887800-128894600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:128887800-128894600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:128887800-128894600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr4:128887800-128894600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr4:128887800-128894800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:128887800-128895000	Weak transcription	Pancreas	Pancrea
34	chr4:128887800-128895400	Weak transcription	Spleen	Spleen
35	chr4:128887800-128899400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:128887800-128899800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:128887800-128905400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:128887800-128912800	Weak transcription	Fetal Brain Male	brain
39	chr4:128887800-128917200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:128887800-128921000	Weak transcription	Fetal Lung	lung
41	chr4:128887800-128930400	Weak transcription	Osteobl	bone
42	chr4:128887800-128933800	Weak transcription	Gastric	stomach
43	chr4:128887800-128940200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr4:128887800-128941200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr4:128887800-128951200	Weak transcription	HUVEC	blood vessel
46	chr4:128888200-128899800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr4:128888400-128894200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:128888400-128896400	Weak transcription	NHEK	skin
49	chr4:128888400-128899600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:128888400-128900000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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