Variant report

Variant	rs72616970
Chromosome Location	chr4:128861577-128861578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:128802720..128805276-chr4:128860657..128863099,2	K562	blood:
2	chr4:128801063..128804220-chr4:128859164..128863099,4	K562	blood:
3	chr4:128860061..128863173-chr4:128863739..128867512,5	K562	blood:
4	chr4:128859248..128862017-chr4:128886309..128887888,2	K562	blood:
5	chr4:128801713..128804073-chr4:128859906..128862866,2	MCF-7	breast:
6	chr4:128861086..128863821-chr4:128864008..128867512,4	K562	blood:

Variant related genes	Relation type
ENSG00000142731	Chromatin interaction
ENSG00000164073	Chromatin interaction
ENSG00000164074	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs11940642	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11942726	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16997978	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17012727	0.81[EUR][1000 genomes]
rs17012743	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17012747	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17012750	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17012788	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17012836	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17012841	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17012856	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17012870	0.81[EUR][1000 genomes]
rs2007733	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2276898	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2276899	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2276900	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35763794	0.86[AMR][1000 genomes]
rs3733319	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4426798	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4431238	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4470641	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4535346	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4607232	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5011745	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56250604	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56699332	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56775923	0.83[AMR][1000 genomes]
rs57257129	0.81[EUR][1000 genomes]
rs57431280	0.81[EUR][1000 genomes]
rs57487637	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57561160	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57645489	0.81[EUR][1000 genomes]
rs57872423	0.81[EUR][1000 genomes]
rs58225850	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58546713	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58569950	0.81[EUR][1000 genomes]
rs58830700	0.80[AMR][1000 genomes]
rs59117993	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59189441	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59569890	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59815828	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59984114	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60279389	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60505265	0.81[EUR][1000 genomes]
rs60665827	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60930401	0.81[EUR][1000 genomes]
rs60979346	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61027047	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61300521	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6817374	0.81[EUR][1000 genomes]
rs6822340	0.90[EUR][1000 genomes]
rs6840241	0.81[EUR][1000 genomes]
rs6850549	0.81[EUR][1000 genomes]
rs6850726	0.81[EUR][1000 genomes]
rs72616963	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72616964	0.86[AMR][1000 genomes]
rs72616965	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72616966	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72616967	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72616968	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72616969	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72616971	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72616972	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72616973	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72616974	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72616975	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72616976	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616977	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72616978	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72618806	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72618807	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618808	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618809	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618810	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618811	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618812	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618813	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618814	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72618815	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72618816	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72618817	0.81[EUR][1000 genomes]
rs72618818	0.81[EUR][1000 genomes]
rs72618819	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72618820	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72618821	0.81[EUR][1000 genomes]
rs72618822	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72618823	0.81[EUR][1000 genomes]
rs72618824	0.81[EUR][1000 genomes]
rs72618825	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72618826	0.81[EUR][1000 genomes]
rs72618827	0.81[EUR][1000 genomes]
rs72618828	0.81[EUR][1000 genomes]
rs72618829	0.81[EUR][1000 genomes]
rs72618830	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72618831	0.81[EUR][1000 genomes]
rs72618832	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72618833	0.81[EUR][1000 genomes]
rs72618834	0.81[EUR][1000 genomes]
rs72618835	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128818800-128863000	Weak transcription	A549	lung
2	chr4:128831200-128884600	Weak transcription	Spleen	Spleen
3	chr4:128832600-128885200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:128833600-128867600	Weak transcription	NHLF	lung
5	chr4:128835000-128885200	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:128836000-128864000	Weak transcription	Small Intestine	intestine
7	chr4:128836400-128863000	Weak transcription	Fetal Kidney	kidney
8	chr4:128836800-128884600	Weak transcription	Esophagus	oesophagus
9	chr4:128836800-128885200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:128837000-128868600	Weak transcription	Pancreas	Pancrea
11	chr4:128837000-128885800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr4:128837400-128885800	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:128837600-128861800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:128837800-128885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:128838000-128865400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr4:128838000-128866000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:128838400-128885200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:128838400-128885800	Weak transcription	Brain Angular Gyrus	brain
19	chr4:128838800-128862600	Weak transcription	HSMMtube	muscle
20	chr4:128838800-128885200	Weak transcription	Right Ventricle	heart
21	chr4:128839800-128861800	Weak transcription	HMEC	breast
22	chr4:128840000-128885800	Weak transcription	Aorta	Aorta
23	chr4:128840600-128885200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:128840800-128885200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:128841600-128885200	Weak transcription	Hela-S3	cervix
26	chr4:128841800-128885200	Weak transcription	Gastric	stomach
27	chr4:128842000-128862000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:128842000-128862800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:128842400-128863000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:128842400-128881200	Weak transcription	Colonic Mucosa	Colon
31	chr4:128842600-128879200	Weak transcription	K562	blood
32	chr4:128842800-128862200	Weak transcription	Fetal Brain Female	brain
33	chr4:128842800-128885400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr4:128842800-128885600	Weak transcription	Psoas Muscle	Psoas
35	chr4:128843000-128863200	Weak transcription	GM12878-XiMat	blood
36	chr4:128843000-128875800	Weak transcription	HSMM	muscle
37	chr4:128843000-128885200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:128843000-128885200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:128843000-128885200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:128843000-128885800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr4:128843000-128885800	Weak transcription	Brain Substantia Nigra	brain
42	chr4:128843400-128862000	Weak transcription	Dnd41	blood
43	chr4:128845400-128861800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr4:128847600-128862800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr4:128847600-128863200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:128847600-128885800	Weak transcription	Lung	lung
47	chr4:128847800-128885200	Weak transcription	Fetal Lung	lung
48	chr4:128849000-128861800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr4:128849200-128862200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr4:128849200-128862400	Weak transcription	Fetal Muscle Trunk	muscle

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