Variant report

Variant	rs4132443
Chromosome Location	chr4:158913880-158913881
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:158912571..158916849-chr4:159013907..159018478,8	MCF-7	breast:
2	chr4:158912471..158914570-chr4:159016207..159019038,2	MCF-7	breast:
3	chr4:158911789..158914319-chr4:159172827..159175219,2	MCF-7	breast:
4	chr4:158912006..158922011-chr4:159085009..159099282,46	MCF-7	breast:
5	chr4:158908850..158922778-chr4:159084957..159098830,43	MCF-7	breast:
6	chr4:158912766..158914612-chr4:159093255..159094613,8	MCF-7	breast:
7	chr4:158912447..158914519-chr4:159011128..159013827,2	MCF-7	breast:
8	chr4:158913650..158917854-chr4:159079985..159084707,6	MCF-7	breast:
9	chr4:158912965..158913889-chr4:159091397..159091962,2	MCF-7	breast:
10	chr4:158913331..158913957-chr4:159093735..159094265,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164125	Chromatin interaction
ENSG00000248429	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10517684	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857307	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857308	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11100145	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12498860	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501025	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504989	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505752	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12505934	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12510436	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511544	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511578	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511957	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12512064	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643255	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12644342	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12650454	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1375138	0.81[EUR][1000 genomes]
rs17036918	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036921	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839129	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1839130	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2594763	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2594769	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35146306	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35354204	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3934848	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4129400	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4132016	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4307005	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4460050	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464607	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4629502	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4637451	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4691449	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57156989	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58762368	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62335304	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335305	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335306	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335307	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335308	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335310	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335311	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335313	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335314	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335315	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335316	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335317	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335339	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62335341	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62335345	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62335346	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62335358	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62335359	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62336960	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62336961	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62336984	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6815131	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6827475	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72965897	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72967808	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72967836	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs964237	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs982239	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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 target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv881288	chr4:158891733-159028080	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158912800-158914400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr4:158913000-158914000	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr4:158913400-158914400	Enhancers	Liver	Liver
4	chr4:158913400-158914400	Enhancers	Fetal Heart	heart
5	chr4:158913400-158914600	Enhancers	Stomach Mucosa	stomach
6	chr4:158913400-158914600	Flanking Active TSS	HepG2	liver
7	chr4:158913600-158916600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:158913600-158917800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:158913800-158914000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:158913800-158914000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:158913800-158914000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr4:158913800-158914000	Enhancers	Fetal Intestine Large	intestine
13	chr4:158913800-158914000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:158913800-158914200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:158913800-158914400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:158913800-158914400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:158913800-158914400	Enhancers	Brain Hippocampus Middle	brain
18	chr4:158913800-158914400	Enhancers	Duodenum Mucosa	Duodenum
19	chr4:158913800-158914400	Enhancers	Fetal Kidney	kidney
20	chr4:158913800-158914600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr4:158913800-158914600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:158913800-158914800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr4:158913800-158914800	Enhancers	HUVEC	blood vessel
24	chr4:158913800-158914800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr4:158913800-158915000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr4:158913800-158915200	Weak transcription	Ovary	ovary
27	chr4:158913800-158915400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:158913800-158915800	Weak transcription	Brain Substantia Nigra	brain
29	chr4:158913800-158915800	Enhancers	A549	lung
30	chr4:158913800-158916000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:158913800-158916000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:158913800-158916000	Weak transcription	Brain Angular Gyrus	brain
33	chr4:158913800-158916000	Weak transcription	Brain Anterior Caudate	brain
34	chr4:158913800-158916000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:158913800-158916000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:158913800-158916000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:158913800-158916000	Weak transcription	NHDF-Ad	bronchial
38	chr4:158913800-158916200	Weak transcription	NHLF	lung
39	chr4:158913800-158917200	Weak transcription	Fetal Stomach	stomach
40	chr4:158913800-158917400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr4:158913800-158917400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr4:158913800-158917400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr4:158913800-158917400	Weak transcription	NH-A	brain
44	chr4:158913800-158918800	Enhancers	Fetal Intestine Small	intestine
45	chr4:158913800-158928200	Weak transcription	HSMM	muscle
46	chr4:158913800-158930000	Weak transcription	Right Atrium	heart

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