Variant report

Variant	rs72616956
Chromosome Location	chr4:128765200-128765201
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:128763485-128766066	K562	blood:	n/a	n/a
2	MAX	chr4:128764758-128765242	H1-hESC	embryonic stem cell:	n/a	chr4:128765004-128765014
3	MAX	chr4:128764818-128765221	H1-hESC	embryonic stem cell:	n/a	chr4:128765004-128765014
4	POLR2A	chr4:128764439-128765998	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr4:128765147-128765297	MCF-7	breast:	n/a	n/a
6	POLR2A	chr4:128765055-128765328	GM12878	blood:	n/a	n/a
7	E2F6	chr4:128764763-128765216	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:128762399..128765265-chr4:128800417..128803235,2	K562	blood:

Variant related genes	Relation type
ENSG00000261668	TF binding region
ENSG00000142731	Chromatin interaction

Extended variants
information (count: 150 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10493145	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10493146	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10493148	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11935472	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11940642	0.88[ASN][1000 genomes]
rs1380155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16997978	0.97[ASN][1000 genomes]
rs17012525	0.82[EUR][1000 genomes]
rs17012586	0.90[EUR][1000 genomes]
rs17012601	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17012634	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17012654	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17012683	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17012687	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17012695	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17012703	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17012708	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17012710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17012727	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17012743	0.95[ASN][1000 genomes]
rs17012747	0.95[ASN][1000 genomes]
rs17012750	0.95[ASN][1000 genomes]
rs17012788	0.85[ASN][1000 genomes]
rs1841156	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1841157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1903106	0.90[EUR][1000 genomes]
rs2276898	0.80[ASN][1000 genomes]
rs2276899	0.80[ASN][1000 genomes]
rs2276900	0.80[ASN][1000 genomes]
rs2276980	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2279071	0.90[EUR][1000 genomes]
rs2391185	0.90[EUR][1000 genomes]
rs28570426	0.85[EUR][1000 genomes]
rs2893227	0.90[EUR][1000 genomes]
rs35147318	0.90[EUR][1000 genomes]
rs35858752	0.90[EUR][1000 genomes]
rs3733319	0.88[ASN][1000 genomes]
rs4422427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4426798	0.80[ASN][1000 genomes]
rs4431238	0.80[ASN][1000 genomes]
rs4456965	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4470641	0.80[ASN][1000 genomes]
rs4508904	0.98[ASN][1000 genomes]
rs4513584	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4590052	0.90[EUR][1000 genomes]
rs4607232	0.95[ASN][1000 genomes]
rs4618331	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56250604	0.97[ASN][1000 genomes]
rs56763029	0.90[EUR][1000 genomes]
rs56893530	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57499646	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57561160	0.93[ASN][1000 genomes]
rs57645489	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58486324	0.90[EUR][1000 genomes]
rs58830700	0.89[ASN][1000 genomes]
rs59189441	0.93[ASN][1000 genomes]
rs59569890	0.84[ASN][1000 genomes]
rs59815828	0.85[ASN][1000 genomes]
rs60279389	0.95[ASN][1000 genomes]
rs60404814	0.90[EUR][1000 genomes]
rs60553863	0.90[EUR][1000 genomes]
rs60666303	0.90[EUR][1000 genomes]
rs60803593	0.90[EUR][1000 genomes]
rs60930401	0.88[ASN][1000 genomes]
rs61300521	0.93[ASN][1000 genomes]
rs6850549	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6850726	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72616920	0.90[EUR][1000 genomes]
rs72616921	0.90[EUR][1000 genomes]
rs72616922	0.90[EUR][1000 genomes]
rs72616923	0.90[EUR][1000 genomes]
rs72616924	0.90[EUR][1000 genomes]
rs72616925	0.90[EUR][1000 genomes]
rs72616926	0.90[EUR][1000 genomes]
rs72616927	0.90[EUR][1000 genomes]
rs72616928	0.90[EUR][1000 genomes]
rs72616929	0.90[EUR][1000 genomes]
rs72616930	0.90[EUR][1000 genomes]
rs72616931	0.90[EUR][1000 genomes]
rs72616932	0.90[EUR][1000 genomes]
rs72616933	0.90[EUR][1000 genomes]
rs72616934	0.90[EUR][1000 genomes]
rs72616935	0.90[EUR][1000 genomes]
rs72616936	0.90[EUR][1000 genomes]
rs72616937	0.90[EUR][1000 genomes]
rs72616938	0.90[EUR][1000 genomes]
rs72616939	0.90[EUR][1000 genomes]
rs72616940	0.90[EUR][1000 genomes]
rs72616941	0.90[EUR][1000 genomes]
rs72616942	0.90[EUR][1000 genomes]
rs72616943	0.90[EUR][1000 genomes]
rs72616947	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72616948	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616949	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616950	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616951	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72616953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72616954	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72616955	0.92[ASN][1000 genomes]
rs72616957	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616958	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616959	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616960	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616961	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616962	0.94[ASN][1000 genomes]
rs72616963	0.97[ASN][1000 genomes]
rs72616964	0.88[ASN][1000 genomes]
rs72616965	0.93[ASN][1000 genomes]
rs72616966	0.90[ASN][1000 genomes]
rs72616967	0.86[ASN][1000 genomes]
rs72616968	0.88[ASN][1000 genomes]
rs72616969	0.86[ASN][1000 genomes]
rs72616972	0.80[ASN][1000 genomes]
rs72616973	0.80[ASN][1000 genomes]
rs72616974	0.80[ASN][1000 genomes]
rs72616975	0.80[ASN][1000 genomes]
rs72621886	0.90[EUR][1000 genomes]
rs72621891	0.90[EUR][1000 genomes]
rs72621892	0.90[EUR][1000 genomes]
rs72621893	0.90[EUR][1000 genomes]
rs72621894	0.90[EUR][1000 genomes]
rs72621895	0.90[EUR][1000 genomes]
rs72621896	0.90[EUR][1000 genomes]
rs72621897	0.90[EUR][1000 genomes]
rs72621898	0.90[EUR][1000 genomes]
rs72621899	0.90[EUR][1000 genomes]
rs72621900	0.90[EUR][1000 genomes]
rs72621901	0.90[EUR][1000 genomes]
rs72621902	0.90[EUR][1000 genomes]
rs72624503	0.90[EUR][1000 genomes]
rs72624504	0.90[EUR][1000 genomes]
rs72624505	0.90[EUR][1000 genomes]
rs7439365	0.90[EUR][1000 genomes]
rs7684815	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv879917	chr4:128478408-128841252	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv879921	chr4:128554404-128766074	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	esv1793579	chr4:128577439-128871309	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv830057	chr4:128591288-128788777	Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv879926	chr4:128652227-128766074	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
13	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
14	nsv879927	chr4:128668850-128766074	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
15	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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128730800-128767000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr4:128730800-128767200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr4:128742800-128767200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:128745600-128766200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:128750000-128766400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:128751000-128778200	Weak transcription	Ovary	ovary
7	chr4:128754400-128765600	Weak transcription	HMEC	breast
8	chr4:128755400-128768200	Weak transcription	Brain Anterior Caudate	brain
9	chr4:128756200-128765400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:128756200-128767800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:128760000-128766800	Weak transcription	GM12878-XiMat	blood
12	chr4:128761200-128765400	Weak transcription	Primary T cells from cord blood	blood
13	chr4:128762000-128767000	Weak transcription	Brain Substantia Nigra	brain
14	chr4:128763200-128766400	Weak transcription	Dnd41	blood
15	chr4:128763400-128766000	Weak transcription	Fetal Brain Male	brain
16	chr4:128764000-128767400	Weak transcription	Primary B cells from cord blood	blood
17	chr4:128764000-128773000	Weak transcription	NHLF	lung
18	chr4:128764600-128765200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:128764600-128765200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:128764600-128765200	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr4:128764600-128765400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:128764600-128765600	Enhancers	K562	blood
23	chr4:128764600-128766000	ZNF genes & repeats	Fetal Stomach	stomach
24	chr4:128764600-128767200	Enhancers	Esophagus	oesophagus
25	chr4:128764800-128765400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:128764800-128765400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:128764800-128765600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:128764800-128766200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:128764800-128767200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:128764800-128767200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:128764800-128767600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:128765000-128765200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:128765000-128765200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr4:128765000-128765200	ZNF genes & repeats	Gastric	stomach
35	chr4:128765000-128766000	ZNF genes & repeats	Lung	lung
36	chr4:128765200-128765800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr4:128765200-128766000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:128765200-128766200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:128765200-128766800	Weak transcription	Gastric	stomach
40	chr4:128765200-128767600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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