Variant report

Variant	rs68050111
Chromosome Location	chr4:10456937-10456938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:10436820..10442109-chr4:10453962..10457876,6	K562	blood:
2	chr4:10142152..10144542-chr4:10456013..10458159,2	K562	blood:
3	chr4:10117460..10124392-chr4:10456675..10465032,17	K562	blood:
4	chr4:10439495..10442453-chr4:10454853..10458527,4	K562	blood:
5	chr4:10114078..10122203-chr4:10455501..10461954,12	K562	blood:

Variant related genes	Relation type
ENSG00000223086	Chromatin interaction
ENSG00000071127	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13133041	0.81[EUR][1000 genomes]
rs28676965	0.91[EUR][1000 genomes]
rs35257407	0.91[EUR][1000 genomes]
rs4343721	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4577571	0.81[EUR][1000 genomes]
rs4631037	0.89[EUR][1000 genomes]
rs57677015	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs57723486	0.81[AFR][1000 genomes]
rs58421266	0.91[EUR][1000 genomes]
rs60445736	0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs67613964	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67809936	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67888847	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816289	0.90[ASN][1000 genomes]
rs7661650	0.90[EUR][1000 genomes]
rs7662352	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7675445	0.94[ASN][1000 genomes]
rs7676070	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7682691	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7683253	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7685613	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997941	chr4:9805223-10493388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1008649	chr4:9805223-10589802	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	nsv1000587	chr4:9805223-10610752	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
4	nsv537022	chr4:9805223-10610752	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
5	nsv1003454	chr4:9805223-10710990	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
6	nsv537023	chr4:9805223-10710990	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
7	nsv1004801	chr4:9814720-10674528	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
8	nsv537024	chr4:9814720-10674528	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
9	nsv931483	chr4:9814721-10716463	Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
10	nsv1009972	chr4:9903566-10710990	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
11	nsv537027	chr4:9903566-10710990	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
12	nsv1010620	chr4:9937123-10686682	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
13	nsv530280	chr4:9947818-10940041	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
14	nsv869057	chr4:10013411-10875454	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
15	nsv997936	chr4:10040713-11009045	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
16	nsv1000177	chr4:10212245-10557776	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv537037	chr4:10212245-10557776	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv829858	chr4:10300236-10492716	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	esv2757921	chr4:10343699-10545800	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	esv2759223	chr4:10343699-10545800	Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv593727	chr4:10397327-10694991	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	nsv517971	chr4:10399068-10893253	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	nsv878694	chr4:10407572-10783606	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
24	esv1811736	chr4:10454409-10467939	Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10443200-10457000	ZNF genes & repeats	Brain Germinal Matrix	brain
2	chr4:10443400-10457000	ZNF genes & repeats	Fetal Brain Female	brain
3	chr4:10444800-10457000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:10448000-10458000	Weak transcription	Brain Angular Gyrus	brain
5	chr4:10448400-10457400	Strong transcription	NHEK	skin
6	chr4:10449200-10457600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:10450000-10457000	Strong transcription	Placenta	Placenta
8	chr4:10450000-10457400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:10450200-10457400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:10450600-10457800	Weak transcription	Psoas Muscle	Psoas
11	chr4:10450600-10458000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:10450800-10457200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:10451000-10457200	Strong transcription	Fetal Intestine Large	intestine
14	chr4:10451200-10457000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:10451200-10457200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr4:10451600-10457000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:10451800-10457000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:10452200-10458000	Weak transcription	Stomach Mucosa	stomach
19	chr4:10452400-10457600	Weak transcription	Brain Substantia Nigra	brain
20	chr4:10452400-10458000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr4:10452400-10458000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr4:10452800-10457800	Weak transcription	HMEC	breast
23	chr4:10452800-10458000	Weak transcription	Pancreas	Pancrea
24	chr4:10453400-10457000	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:10453600-10457200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:10454000-10457000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:10454000-10457000	Strong transcription	Fetal Lung	lung
28	chr4:10454000-10457000	Strong transcription	Left Ventricle	heart
29	chr4:10454000-10458000	Weak transcription	Small Intestine	intestine
30	chr4:10454200-10457000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr4:10454600-10457000	Strong transcription	Primary hematopoietic stem cells	blood
32	chr4:10454600-10457200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:10454800-10457600	Weak transcription	Fetal Kidney	kidney
34	chr4:10454800-10457600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr4:10455400-10457000	ZNF genes & repeats	Fetal Stomach	stomach
36	chr4:10455600-10457000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:10455600-10457000	ZNF genes & repeats	Ovary	ovary
38	chr4:10455800-10457000	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr4:10455800-10457800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr4:10456200-10457000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr4:10456200-10457000	Genic enhancers	K562	blood
42	chr4:10456200-10457200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:10456200-10457600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr4:10456200-10457600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr4:10456200-10457600	Weak transcription	Right Ventricle	heart
46	chr4:10456400-10457000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
47	chr4:10456400-10457000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:10456400-10457000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:10456400-10457000	ZNF genes & repeats	Aorta	Aorta
50	chr4:10456400-10457000	Weak transcription	Brain Hippocampus Middle	brain

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