Variant report

Variant	rs536541
Chromosome Location	chr4:75080793-75080794
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:75072066..75073934-chr4:75080235..75082986,2	K562	blood:
2	chr4:75071138..75073600-chr4:75079457..75081137,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10433673	0.85[EUR][1000 genomes]
rs11724468	0.92[EUR][1000 genomes]
rs11731340	0.93[EUR][1000 genomes]
rs1246575	0.82[EUR][1000 genomes]
rs1246577	0.84[EUR][1000 genomes]
rs1246578	0.84[EUR][1000 genomes]
rs1246579	0.84[EUR][1000 genomes]
rs1246580	0.85[EUR][1000 genomes]
rs1246582	0.84[EUR][1000 genomes]
rs1246584	0.84[EUR][1000 genomes]
rs1246586	0.84[EUR][1000 genomes]
rs1246587	0.84[EUR][1000 genomes]
rs1246588	0.84[EUR][1000 genomes]
rs1246590	0.86[EUR][1000 genomes]
rs1246591	0.86[EUR][1000 genomes]
rs1246594	0.80[EUR][1000 genomes]
rs1246597	0.86[EUR][1000 genomes]
rs12500697	0.87[EUR][1000 genomes]
rs1265327	0.84[EUR][1000 genomes]
rs13116896	0.85[EUR][1000 genomes]
rs13142241	0.90[EUR][1000 genomes]
rs1371796	0.92[EUR][1000 genomes]
rs1371797	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1380561	0.81[EUR][1000 genomes]
rs1460016	0.86[EUR][1000 genomes]
rs1460017	0.86[EUR][1000 genomes]
rs1964526	0.85[EUR][1000 genomes]
rs2045618	0.86[EUR][1000 genomes]
rs2367555	0.84[EUR][1000 genomes]
rs2367745	0.82[EUR][1000 genomes]
rs28592249	0.87[EUR][1000 genomes]
rs28695994	0.86[EUR][1000 genomes]
rs4577545	0.80[EUR][1000 genomes]
rs4694184	0.85[EUR][1000 genomes]
rs488440	0.86[EUR][1000 genomes]
rs565831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62312515	0.81[EUR][1000 genomes]
rs6811214	0.93[EUR][1000 genomes]
rs6854203	0.80[EUR][1000 genomes]
rs6858809	0.89[EUR][1000 genomes]
rs7676371	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678292	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7681137	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681763	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681912	0.88[EUR][1000 genomes]
rs7683181	0.88[EUR][1000 genomes]
rs9992393	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv594683	chr4:75013441-75106485	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1013260	chr4:75013441-75121643	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1002907	chr4:75013441-75131443	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1004706	chr4:75014770-75121643	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv594684	chr4:75015750-75106485	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv2760892	chr4:75073700-75085646	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv437397	chr4:75077057-75095061	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv16427	chr4:75078561-75083647	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75056800-75096600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr4:75059200-75081000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:75064200-75096400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:75065000-75086200	Weak transcription	Psoas Muscle	Psoas
5	chr4:75067800-75097000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:75068400-75082400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:75068400-75093000	Weak transcription	Thymus	Thymus
8	chr4:75068400-75096600	Weak transcription	Adipose Nuclei	Adipose
9	chr4:75069600-75091000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:75071800-75096400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:75072200-75099200	Weak transcription	Ovary	ovary
12	chr4:75073000-75092400	Weak transcription	Primary B cells from cord blood	blood
13	chr4:75073800-75089400	Weak transcription	A549	lung
14	chr4:75073800-75089600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:75073800-75094400	Weak transcription	Brain Angular Gyrus	brain
16	chr4:75074000-75082800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:75074200-75082800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:75074200-75084000	Weak transcription	HMEC	breast
19	chr4:75074400-75083200	Weak transcription	HSMMtube	muscle
20	chr4:75074600-75091200	Weak transcription	Liver	Liver
21	chr4:75075000-75095800	Weak transcription	Primary T cells from cord blood	blood
22	chr4:75075200-75083400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:75078000-75084800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:75078400-75083600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:75079800-75080800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr4:75080000-75081000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:75080000-75081200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:75080000-75081200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:75080000-75081400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:75080200-75080800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:75080200-75080800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:75080200-75080800	Enhancers	Dnd41	blood
33	chr4:75080200-75081200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:75080200-75081400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr4:75080200-75081400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:75080200-75081400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr4:75080200-75081400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:75080400-75080800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:75080400-75080800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:75080400-75080800	Enhancers	Fetal Thymus	thymus
41	chr4:75080400-75081000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:75080400-75081000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:75080400-75081000	Enhancers	Stomach Mucosa	stomach
44	chr4:75080400-75081000	Enhancers	HepG2	liver
45	chr4:75080400-75081000	Enhancers	K562	blood
46	chr4:75080400-75081200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr4:75080400-75081200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:75080400-75081400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr4:75080600-75080800	Enhancers	Left Ventricle	heart
50	chr4:75080600-75081000	Strong transcription	Fetal Intestine Small	intestine

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