Variant report

Variant	rs58882042
Chromosome Location	chr4:129308941-129308942
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:129307944..129310156-chr4:129310827..129313673,3	MCF-7	breast:
2	chr4:129299568..129302114-chr4:129305690..129309933,3	MCF-7	breast:
3	chr4:129305151..129309192-chr4:129309393..129314281,5	K562	blood:
4	chr4:129206931..129210316-chr4:129305166..129310955,10	MCF-7	breast:
5	chr4:129306838..129309441-chr4:129374986..129377147,3	MCF-7	breast:
6	chr4:129308351..129310023-chr4:129347003..129350505,3	MCF-7	breast:
7	chr4:129220329..129222298-chr4:129307993..129309742,2	MCF-7	breast:
8	chr4:129206950..129209974-chr4:129306289..129310071,5	MCF-7	breast:
9	chr4:129307193..129309855-chr4:129437736..129439339,2	K562	blood:
10	chr4:129308589..129310194-chr4:129473413..129476232,2	MCF-7	breast:
11	chr4:129301690..129303504-chr4:129307235..129309369,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251432	Chromatin interaction
ENSG00000164040	Chromatin interaction
ENSG00000273077	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17013158	1.00[EUR][1000 genomes]
rs17013169	1.00[EUR][1000 genomes]
rs17013197	1.00[EUR][1000 genomes]
rs17013221	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58251203	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59198218	1.00[EUR][1000 genomes]
rs60082278	1.00[EUR][1000 genomes]
rs73846936	1.00[EUR][1000 genomes]
rs73848751	1.00[EUR][1000 genomes]
rs73848781	1.00[EUR][1000 genomes]
rs73848783	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129301800-129314000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:129304200-129310200	Enhancers	Placenta	Placenta
3	chr4:129304400-129310600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:129304600-129309600	Enhancers	HSMM	muscle
5	chr4:129304600-129309800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:129304600-129309800	Enhancers	HSMMtube	muscle
7	chr4:129305000-129309600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr4:129305000-129309600	Enhancers	NH-A	brain
9	chr4:129305000-129309800	Enhancers	Osteobl	bone
10	chr4:129305200-129314400	Weak transcription	Small Intestine	intestine
11	chr4:129305400-129310200	Enhancers	Ovary	ovary
12	chr4:129305600-129309200	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr4:129305800-129309600	Enhancers	NHLF	lung
14	chr4:129306000-129310200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr4:129306200-129310000	Enhancers	Stomach Mucosa	stomach
16	chr4:129306400-129309200	Enhancers	Duodenum Mucosa	Duodenum
17	chr4:129306400-129309200	Enhancers	Fetal Stomach	stomach
18	chr4:129306400-129309400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:129306400-129309400	Enhancers	K562	blood
20	chr4:129306400-129309600	Enhancers	Adipose Nuclei	Adipose
21	chr4:129306400-129310000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:129306400-129310000	Enhancers	HMEC	breast
23	chr4:129306400-129310200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:129306400-129310600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:129306600-129309000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr4:129306600-129310200	Enhancers	NHEK	skin
27	chr4:129306600-129311400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:129306800-129309000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr4:129306800-129309000	Enhancers	Pancreas	Pancrea
30	chr4:129306800-129309600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:129306800-129310000	Enhancers	Fetal Muscle Leg	muscle
32	chr4:129307200-129309000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:129307200-129312000	Enhancers	Fetal Heart	heart
34	chr4:129307400-129309600	Enhancers	Esophagus	oesophagus
35	chr4:129307400-129309800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:129307600-129311000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:129307800-129312000	Enhancers	Fetal Brain Male	brain
38	chr4:129308000-129309000	Enhancers	Gastric	stomach
39	chr4:129308000-129309200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:129308000-129309600	Enhancers	Fetal Muscle Trunk	muscle
41	chr4:129308000-129310000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:129308000-129310400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:129308200-129309800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:129308200-129310000	Enhancers	NHDF-Ad	bronchial
45	chr4:129308200-129310200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr4:129308200-129313000	Enhancers	A549	lung
47	chr4:129308200-129317000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:129308400-129309000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:129308400-129309000	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr4:129308400-129309600	Enhancers	Left Ventricle	heart

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