Variant report

Variant	rs28503518
Chromosome Location	chr4:8380217-8380218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1403580	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2293230	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28541824	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34732357	0.93[ASN][1000 genomes]
rs3775896	0.93[ASN][1000 genomes]
rs3775897	0.93[ASN][1000 genomes]
rs3775899	0.93[ASN][1000 genomes]
rs3796744	0.93[ASN][1000 genomes]
rs3796746	0.93[ASN][1000 genomes]
rs3796747	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3796749	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3822207	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4481223	0.93[ASN][1000 genomes]
rs7697154	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs940135	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv878607	chr4:8349738-8380857	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv878608	chr4:8349738-8386720	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv461219	chr4:8353829-8390646	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv593637	chr4:8353829-8390646	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv524994	chr4:8373832-8380857	Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
15	nsv878609	chr4:8373832-8407406	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv878610	chr4:8377058-8416976	ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8354600-8381000	Weak transcription	Right Atrium	heart
2	chr4:8355800-8384800	Weak transcription	Fetal Lung	lung
3	chr4:8360400-8394000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:8360400-8395600	Weak transcription	NHEK	skin
5	chr4:8362000-8395400	Weak transcription	Fetal Brain Male	brain
6	chr4:8364000-8383400	Weak transcription	Colonic Mucosa	Colon
7	chr4:8364000-8388600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:8364200-8387000	Weak transcription	Dnd41	blood
9	chr4:8364800-8387000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:8364800-8392400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:8365000-8382800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:8365000-8385000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:8365200-8385000	Weak transcription	NHLF	lung
14	chr4:8365400-8383600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:8365600-8382200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:8365600-8388800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr4:8365800-8383600	Strong transcription	Fetal Stomach	stomach
18	chr4:8366000-8382800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:8366400-8380600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:8366400-8411600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr4:8366800-8386000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:8366800-8390000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr4:8367400-8384800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr4:8367400-8386800	Weak transcription	Primary B cells from cord blood	blood
25	chr4:8367800-8384800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:8368000-8380600	Weak transcription	Thymus	Thymus
27	chr4:8368400-8388400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:8368600-8380600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:8368800-8382600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:8368800-8384200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:8368800-8386600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr4:8368800-8388800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr4:8371400-8383200	Strong transcription	Ovary	ovary
34	chr4:8371600-8383200	Strong transcription	Lung	lung
35	chr4:8372200-8387000	Strong transcription	Pancreas	Pancrea
36	chr4:8372600-8384000	Strong transcription	Placenta	Placenta
37	chr4:8372600-8389800	Strong transcription	Esophagus	oesophagus
38	chr4:8372800-8385000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr4:8373000-8385000	Strong transcription	Stomach Smooth Muscle	stomach
40	chr4:8373000-8388200	Weak transcription	Osteobl	bone
41	chr4:8373200-8384800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr4:8373400-8401600	Strong transcription	Fetal Intestine Small	intestine
43	chr4:8374600-8381800	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:8374600-8383600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:8374800-8386800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr4:8375000-8381200	Strong transcription	Gastric	stomach
47	chr4:8375000-8401600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:8375200-8381000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:8375400-8380600	Weak transcription	Left Ventricle	heart
50	chr4:8375400-8383400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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