Variant report

Variant	rs72616950
Chromosome Location	chr4:128705205-128705206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:128702580..128705894-chr4:128810025..128813296,3	K562	blood:
2	chr4:128703531..128705249-chr4:130014655..130017577,2	K562	blood:
3	chr4:128701934..128705815-chr4:128979420..128984468,5	K562	blood:
4	chr4:128702203..128705505-chr4:128800773..128804170,4	MCF-7	breast:
5	chr4:128702304..128707255-chr4:128884841..128889595,9	K562	blood:
6	chr4:128701934..128705815-chr4:128979420..128985014,7	K562	blood:
7	chr4:128702265..128705282-chr4:128884841..128889213,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000142731	Chromatin interaction
ENSG00000138709	Chromatin interaction
ENSG00000151466	Chromatin interaction
ENSG00000164074	Chromatin interaction
ENSG00000151470	Chromatin interaction
ENSG00000164073	Chromatin interaction
ENSG00000251821	Chromatin interaction

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10493145	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493148	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11935472	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355927	0.90[EUR][1000 genomes]
rs1380155	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1514313	0.90[EUR][1000 genomes]
rs1514314	0.90[EUR][1000 genomes]
rs1514315	0.90[EUR][1000 genomes]
rs16997978	0.83[ASN][1000 genomes]
rs17012525	0.91[EUR][1000 genomes]
rs17012586	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17012601	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17012634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012683	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17012687	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17012695	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17012703	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17012708	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17012710	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17012727	0.83[ASN][1000 genomes]
rs17012743	0.81[ASN][1000 genomes]
rs17012747	0.81[ASN][1000 genomes]
rs17012750	0.81[ASN][1000 genomes]
rs1841156	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1841157	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1903106	1.00[EUR][1000 genomes]
rs2007243	0.90[EUR][1000 genomes]
rs2276980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2279071	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2391185	1.00[EUR][1000 genomes]
rs28570426	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2893227	1.00[EUR][1000 genomes]
rs35147318	1.00[EUR][1000 genomes]
rs35858752	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4422427	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4456965	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4508904	0.83[ASN][1000 genomes]
rs4513584	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4590052	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4607232	0.81[ASN][1000 genomes]
rs4618331	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56250604	0.83[ASN][1000 genomes]
rs56763029	1.00[EUR][1000 genomes]
rs56893530	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57499646	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57645489	0.81[ASN][1000 genomes]
rs58486324	1.00[EUR][1000 genomes]
rs60279389	0.81[ASN][1000 genomes]
rs60404814	1.00[EUR][1000 genomes]
rs60553863	1.00[EUR][1000 genomes]
rs60666303	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60803593	1.00[EUR][1000 genomes]
rs6850549	0.82[ASN][1000 genomes]
rs6850726	0.81[ASN][1000 genomes]
rs72616920	1.00[EUR][1000 genomes]
rs72616921	1.00[EUR][1000 genomes]
rs72616922	1.00[EUR][1000 genomes]
rs72616923	1.00[EUR][1000 genomes]
rs72616924	1.00[EUR][1000 genomes]
rs72616925	1.00[EUR][1000 genomes]
rs72616926	1.00[EUR][1000 genomes]
rs72616927	1.00[EUR][1000 genomes]
rs72616928	1.00[EUR][1000 genomes]
rs72616929	1.00[EUR][1000 genomes]
rs72616930	1.00[EUR][1000 genomes]
rs72616931	1.00[EUR][1000 genomes]
rs72616932	1.00[EUR][1000 genomes]
rs72616933	1.00[EUR][1000 genomes]
rs72616934	1.00[EUR][1000 genomes]
rs72616935	1.00[EUR][1000 genomes]
rs72616936	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72616937	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616938	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72616939	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72616940	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72616941	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72616942	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72616943	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72616947	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72616948	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616951	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616952	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72616953	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616954	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72616955	0.83[ASN][1000 genomes]
rs72616956	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616957	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616958	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616959	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616960	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616961	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616963	0.83[ASN][1000 genomes]
rs72621863	0.90[EUR][1000 genomes]
rs72621865	0.90[EUR][1000 genomes]
rs72621866	0.90[EUR][1000 genomes]
rs72621867	0.90[EUR][1000 genomes]
rs72621868	0.90[EUR][1000 genomes]
rs72621869	0.90[EUR][1000 genomes]
rs72621870	0.82[EUR][1000 genomes]
rs72621871	0.90[EUR][1000 genomes]
rs72621886	1.00[EUR][1000 genomes]
rs72621891	1.00[EUR][1000 genomes]
rs72621892	1.00[EUR][1000 genomes]
rs72621893	1.00[EUR][1000 genomes]
rs72621894	1.00[EUR][1000 genomes]
rs72621895	1.00[EUR][1000 genomes]
rs72621896	1.00[EUR][1000 genomes]
rs72621897	1.00[EUR][1000 genomes]
rs72621898	1.00[EUR][1000 genomes]
rs72621899	1.00[EUR][1000 genomes]
rs72621900	1.00[EUR][1000 genomes]
rs72621901	1.00[EUR][1000 genomes]
rs72621902	1.00[EUR][1000 genomes]
rs72624503	1.00[EUR][1000 genomes]
rs72624504	1.00[EUR][1000 genomes]
rs72624505	1.00[EUR][1000 genomes]
rs7439365	1.00[EUR][1000 genomes]
rs7684815	0.87[AMR][1000 genomes];0.87[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	esv1792152	chr4:128585215-128752829	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128702200-128706800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr4:128702400-128705800	Active TSS	Brain Anterior Caudate	brain
3	chr4:128702400-128706000	Active TSS	Brain Angular Gyrus	brain
4	chr4:128702400-128706000	Active TSS	Brain Hippocampus Middle	brain
5	chr4:128702400-128706000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr4:128702400-128706000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:128702400-128706000	Active TSS	Stomach Smooth Muscle	stomach
8	chr4:128702600-128705600	Active TSS	A549	lung
9	chr4:128702600-128705800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:128702600-128706200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:128702800-128705600	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr4:128702800-128705800	Active TSS	Aorta	Aorta
13	chr4:128702800-128705800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr4:128702800-128705800	Active TSS	HSMMtube	muscle
15	chr4:128702800-128705800	Active TSS	NHEK	skin
16	chr4:128702800-128706000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:128702800-128706000	Active TSS	Brain Substantia Nigra	brain
18	chr4:128702800-128706000	Active TSS	Hela-S3	cervix
19	chr4:128702800-128706200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:128702800-128706400	Active TSS	K562	blood
21	chr4:128703000-128705800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:128703200-128705400	Active TSS	Pancreas	Pancrea
23	chr4:128703200-128706400	Active TSS	HMEC	breast
24	chr4:128703200-128707400	Active TSS	GM12878-XiMat	blood
25	chr4:128704200-128705400	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr4:128704400-128705400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr4:128704400-128705600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr4:128704600-128705800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr4:128704600-128706200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:128704800-128705400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr4:128704800-128705400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr4:128704800-128705600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:128704800-128705800	Active TSS	HepG2	liver
34	chr4:128704800-128706000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:128705000-128705400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
36	chr4:128705000-128705400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr4:128705000-128705400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:128705000-128705400	Flanking Active TSS	Fetal Brain Male	brain
39	chr4:128705000-128705400	Active TSS	Fetal Brain Female	brain
40	chr4:128705000-128705600	Active TSS	Brain Germinal Matrix	brain
41	chr4:128705000-128706000	Enhancers	Fetal Stomach	stomach
42	chr4:128705000-128706000	Active TSS	NHLF	lung
43	chr4:128705000-128718200	Weak transcription	Fetal Heart	heart
44	chr4:128705200-128705400	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr4:128705200-128705400	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr4:128705200-128705400	Enhancers	Rectal Smooth Muscle	rectum
47	chr4:128705200-128705400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr4:128705200-128705400	Enhancers	Small Intestine	intestine
49	chr4:128705200-128705400	Flanking Active TSS	HSMM	muscle
50	chr4:128705200-128705400	Flanking Active TSS	HUVEC	blood vessel

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