Variant report

Variant	rs28716209
Chromosome Location	chr4:148888868-148888869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10029241	1.00[EUR][1000 genomes]
rs10029666	1.00[EUR][1000 genomes]
rs17024101	1.00[EUR][1000 genomes]
rs17024109	1.00[EUR][1000 genomes]
rs28375864	1.00[EUR][1000 genomes]
rs28522552	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28529145	1.00[EUR][1000 genomes]
rs28592193	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594565	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28633738	1.00[EUR][1000 genomes]
rs28637907	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28687202	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36114707	1.00[EUR][1000 genomes]
rs57726071	1.00[EUR][1000 genomes]
rs59333422	1.00[EUR][1000 genomes]
rs59532898	1.00[EUR][1000 genomes]
rs60042934	1.00[EUR][1000 genomes]
rs61012783	1.00[EUR][1000 genomes]
rs61764246	1.00[EUR][1000 genomes]
rs72957750	1.00[EUR][1000 genomes]
rs73853989	1.00[EUR][1000 genomes]
rs9996205	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
2	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1017904	chr4:148814133-148975348	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148850200-148890800	Weak transcription	HUVEC	blood vessel
2	chr4:148856400-148889000	Weak transcription	Placenta	Placenta
3	chr4:148859400-148898000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:148861800-148890800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:148864400-148896800	Weak transcription	Osteobl	bone
6	chr4:148864800-148891200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr4:148866400-148889800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr4:148866400-148927400	Weak transcription	Thymus	Thymus
9	chr4:148867200-148891200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:148868200-148902600	Weak transcription	NH-A	brain
11	chr4:148877600-148889600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:148878000-148890600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:148878400-148890600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:148878400-148896400	Weak transcription	HMEC	breast
15	chr4:148878600-148896400	Weak transcription	NHEK	skin
16	chr4:148879400-148889200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:148879400-148890400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:148879400-148890600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:148879600-148891600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:148879800-148890800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:148879800-148891200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:148880000-148892400	Weak transcription	Psoas Muscle	Psoas
23	chr4:148880000-148892400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:148880200-148889800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:148880200-148896600	Weak transcription	Fetal Heart	heart
26	chr4:148881800-148889400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:148881800-148889600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:148883400-148896400	Weak transcription	Gastric	stomach
29	chr4:148884200-148889200	Strong transcription	GM12878-XiMat	blood
30	chr4:148884400-148890400	Strong transcription	HSMM	muscle
31	chr4:148884600-148889800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:148884800-148889000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:148884800-148889400	Strong transcription	Left Ventricle	heart
34	chr4:148885000-148889400	Strong transcription	Adipose Nuclei	Adipose
35	chr4:148885200-148892600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr4:148885600-148905200	Weak transcription	Fetal Intestine Small	intestine
37	chr4:148885600-148905400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:148885600-148939000	Weak transcription	Pancreas	Pancrea
39	chr4:148885800-148890200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:148885800-148891000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:148885800-148896400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:148885800-148896400	Weak transcription	Lung	lung
43	chr4:148885800-148907000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr4:148885800-148912800	Weak transcription	Fetal Lung	lung
45	chr4:148886000-148890000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr4:148886000-148890200	Weak transcription	NHDF-Ad	bronchial
47	chr4:148886000-148890400	Weak transcription	Fetal Kidney	kidney
48	chr4:148886000-148890600	Weak transcription	Right Ventricle	heart
49	chr4:148886000-148917600	Weak transcription	Esophagus	oesophagus
50	chr4:148886400-148891000	Weak transcription	Fetal Stomach	stomach

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