Variant report

Variant	rs61027047
Chromosome Location	chr4:128888055-128888056
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr4:128886138-128888427	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:128807992..128809913-chr4:128887182..128889527,2	K562	blood:
2	chr4:128799364..128804463-chr4:128885048..128888163,8	K562	blood:
3	chr4:128884064..128888795-chr4:128980591..128984632,7	MCF-7	breast:
4	chr4:128883897..128886531-chr4:128887691..128889539,2	K562	blood:
5	chr4:128702304..128707255-chr4:128884841..128889595,9	K562	blood:
6	chr4:128885127..128890546-chr4:128980550..128983845,11	K562	blood:
7	chr4:128702265..128705282-chr4:128884841..128889213,7	K562	blood:
8	chr4:128800896..128803117-chr4:128885374..128888251,3	MCF-7	breast:
9	chr4:128884948..128891801-chr4:128980633..128984811,17	K562	blood:
10	chr4:128701212..128704782-chr4:128885853..128888301,4	MCF-7	breast:
11	chr4:128887196..128888810-chr4:128892091..128894836,2	K562	blood:
12	chr4:128798970..128804322-chr4:128884774..128888553,10	K562	blood:

No data

Variant related genes	Relation type
MFSD8	TF binding region
ENSG00000164074	Chromatin interaction
ENSG00000164073	Chromatin interaction
ENSG00000142731	Chromatin interaction
ENSG00000138709	Chromatin interaction
ENSG00000164070	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs11940642	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11942726	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11944947	0.85[ASN][1000 genomes]
rs16997978	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17012727	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17012743	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17012747	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17012750	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17012788	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17012836	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17012841	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17012856	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17012870	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17012899	0.85[ASN][1000 genomes]
rs2007733	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2015987	0.85[ASN][1000 genomes]
rs2276898	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276899	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276900	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35763794	0.88[ASN][1000 genomes]
rs3733319	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4426798	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4431238	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4470641	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4535346	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4607232	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5011745	0.90[EUR][1000 genomes]
rs56250604	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56699332	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57257129	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57431280	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57487637	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57561160	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57645489	0.81[EUR][1000 genomes]
rs57872423	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58225850	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58546713	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58569950	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58830700	0.81[ASN][1000 genomes]
rs59117993	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59189441	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59569890	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59815828	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59984114	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60279389	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60505265	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60665827	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60930401	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60979346	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61300521	0.81[EUR][1000 genomes]
rs6817374	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6822340	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6840241	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6850549	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6850726	0.81[EUR][1000 genomes]
rs72616963	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72616965	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72616966	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616967	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616968	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72616969	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72616970	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72616971	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72616972	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72616973	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72616974	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72616975	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72616976	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72616977	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72616978	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618806	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618807	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72618808	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72618809	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72618810	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72618811	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72618812	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72618813	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72618814	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618815	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72618816	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618817	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72618818	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618819	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618820	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618821	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618822	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618823	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618824	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618825	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72618826	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618827	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72618828	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618829	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618830	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72618831	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72618832	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72618833	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72618834	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72618835	0.81[EUR][1000 genomes];0.85[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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128885800-128888200	Active TSS	K562	blood
2	chr4:128885800-128888400	Active TSS	GM12878-XiMat	blood
3	chr4:128887200-128888800	Enhancers	Small Intestine	intestine
4	chr4:128887400-128888400	Enhancers	Brain Substantia Nigra	brain
5	chr4:128887400-128888600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:128887400-128888600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr4:128887400-128888800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:128887400-128890400	Weak transcription	Left Ventricle	heart
9	chr4:128887400-128894200	Weak transcription	Lung	lung
10	chr4:128887400-128905600	Weak transcription	Placenta	Placenta
11	chr4:128887400-128909400	Weak transcription	Ovary	ovary
12	chr4:128887400-128912200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:128887600-128888200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr4:128887600-128888200	Enhancers	Colonic Mucosa	Colon
15	chr4:128887600-128888200	Weak transcription	Stomach Mucosa	stomach
16	chr4:128887600-128888400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:128887600-128888400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr4:128887600-128888400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:128887600-128888400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:128887600-128888400	Enhancers	Brain Angular Gyrus	brain
21	chr4:128887600-128888400	Enhancers	Brain Anterior Caudate	brain
22	chr4:128887600-128888400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr4:128887600-128888600	Enhancers	Primary B cells from cord blood	blood
24	chr4:128887600-128888600	Enhancers	Primary T cells from cord blood	blood
25	chr4:128887600-128888600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr4:128887600-128888600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr4:128887600-128888800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:128887600-128888800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:128887600-128888800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr4:128887600-128888800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr4:128887600-128889400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr4:128887600-128889400	Enhancers	Fetal Heart	heart
33	chr4:128887600-128889800	Weak transcription	Aorta	Aorta
34	chr4:128887600-128890400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr4:128887600-128890400	Weak transcription	Right Atrium	heart
36	chr4:128887600-128892800	Weak transcription	Fetal Thymus	thymus
37	chr4:128887600-128893000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr4:128887600-128894200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:128887600-128894200	Weak transcription	Fetal Stomach	stomach
40	chr4:128887600-128894400	Weak transcription	Brain Germinal Matrix	brain
41	chr4:128887600-128896000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:128887600-128897200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:128887600-128904600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:128887600-128905600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:128887600-128907200	Weak transcription	HSMMtube	muscle
46	chr4:128887600-128910000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr4:128887600-128920800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:128887600-128933600	Weak transcription	Brain Hippocampus Middle	brain
49	chr4:128887600-128933800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr4:128887600-128941400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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