Variant report

Variant	rs58694083
Chromosome Location	chr4:148887211-148887212
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs168367	0.92[EUR][1000 genomes]
rs187005	0.89[EUR][1000 genomes]
rs2118032	0.92[EUR][1000 genomes]
rs2164529	0.89[EUR][1000 genomes]
rs238866	0.92[EUR][1000 genomes]
rs28572267	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56743769	0.84[AMR][1000 genomes]
rs59630516	0.84[AMR][1000 genomes]
rs59966461	0.84[AMR][1000 genomes]
rs60882169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61085580	0.84[AMR][1000 genomes]
rs6820696	0.89[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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148826600-148888200	Weak transcription	Fetal Thymus	thymus
2	chr4:148850200-148890800	Weak transcription	HUVEC	blood vessel
3	chr4:148856400-148889000	Weak transcription	Placenta	Placenta
4	chr4:148859400-148898000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:148861800-148890800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:148862800-148887800	Weak transcription	Fetal Intestine Large	intestine
7	chr4:148864400-148896800	Weak transcription	Osteobl	bone
8	chr4:148864800-148891200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:148866400-148887400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:148866400-148889800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:148866400-148927400	Weak transcription	Thymus	Thymus
12	chr4:148867200-148891200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:148868200-148902600	Weak transcription	NH-A	brain
14	chr4:148877600-148889600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:148878000-148890600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:148878400-148890600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:148878400-148896400	Weak transcription	HMEC	breast
18	chr4:148878600-148896400	Weak transcription	NHEK	skin
19	chr4:148879400-148889200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:148879400-148890400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:148879400-148890600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:148879600-148888800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:148879600-148891600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:148879800-148890800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:148879800-148891200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:148880000-148892400	Weak transcription	Psoas Muscle	Psoas
27	chr4:148880000-148892400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:148880200-148887600	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:148880200-148889800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:148880200-148896600	Weak transcription	Fetal Heart	heart
31	chr4:148881800-148889400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:148881800-148889600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:148882000-148888200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:148883400-148887400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:148883400-148896400	Weak transcription	Gastric	stomach
36	chr4:148884200-148889200	Strong transcription	GM12878-XiMat	blood
37	chr4:148884400-148890400	Strong transcription	HSMM	muscle
38	chr4:148884600-148889800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:148884800-148887400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:148884800-148889000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:148884800-148889400	Strong transcription	Left Ventricle	heart
42	chr4:148885000-148888600	Enhancers	Stomach Mucosa	stomach
43	chr4:148885000-148889400	Strong transcription	Adipose Nuclei	Adipose
44	chr4:148885200-148892600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:148885400-148887400	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr4:148885400-148888600	Strong transcription	HSMMtube	muscle
47	chr4:148885600-148887400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr4:148885600-148888400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:148885600-148905200	Weak transcription	Fetal Intestine Small	intestine
50	chr4:148885600-148905400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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