Variant report

Variant	rs73846925
Chromosome Location	chr4:129474373-129474374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129472659..129478043-chr4:129729703..129733779,4	K562	blood:
2	chr4:129473168..129475213-chr4:129730479..129732295,2	K562	blood:
3	chr4:129471355..129474956-chr4:129730853..129734024,4	MCF-7	breast:
4	chr4:129473084..129475457-chr4:129489959..129493905,4	K562	blood:
5	chr4:129207739..129209319-chr4:129473480..129475503,2	MCF-7	breast:
6	chr4:129472709..129474756-chr4:129728389..129731319,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164040	Chromatin interaction
ENSG00000248187	Chromatin interaction
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17013176	1.00[AMR][1000 genomes]
rs17013178	1.00[AMR][1000 genomes]
rs28427407	1.00[AMR][1000 genomes]
rs28446393	1.00[AMR][1000 genomes]
rs28529644	1.00[AMR][1000 genomes]
rs28611216	1.00[AMR][1000 genomes]
rs28753719	1.00[AMR][1000 genomes]
rs73846923	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1017672	chr4:129450450-129603977	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129473400-129475000	Active TSS	Stomach Smooth Muscle	stomach
2	chr4:129473600-129474400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:129473800-129474400	Active TSS	Adipose Nuclei	Adipose
4	chr4:129473800-129474400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr4:129473800-129474600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:129473800-129474600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr4:129473800-129474800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr4:129473800-129474800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:129473800-129474800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:129473800-129474800	Active TSS	Brain Anterior Caudate	brain
11	chr4:129473800-129474800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:129473800-129474800	Active TSS	Colon Smooth Muscle	Colon
13	chr4:129473800-129474800	Active TSS	Left Ventricle	heart
14	chr4:129473800-129474800	Flanking Active TSS	NH-A	brain
15	chr4:129473800-129475000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:129473800-129475000	Active TSS	Aorta	Aorta
17	chr4:129473800-129475000	Active TSS	Brain Angular Gyrus	brain
18	chr4:129473800-129475000	Active TSS	Brain Hippocampus Middle	brain
19	chr4:129473800-129475000	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr4:129473800-129475000	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr4:129473800-129475000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr4:129473800-129475000	Active TSS	Rectal Smooth Muscle	rectum
23	chr4:129473800-129475200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:129473800-129475200	Active TSS	Ovary	ovary
25	chr4:129473800-129475200	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr4:129473800-129475200	Flanking Active TSS	HUVEC	blood vessel
27	chr4:129473800-129475400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:129473800-129475400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:129473800-129475400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr4:129473800-129475600	Flanking Active TSS	Osteobl	bone
31	chr4:129474000-129474400	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
32	chr4:129474000-129474400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr4:129474000-129474400	Active TSS	Muscle Satellite Cultured Cells	--
34	chr4:129474000-129474400	Active TSS	Fetal Brain Female	brain
35	chr4:129474000-129474400	Flanking Active TSS	Fetal Lung	lung
36	chr4:129474000-129474400	Flanking Active TSS	Placenta	Placenta
37	chr4:129474000-129474400	Flanking Active TSS	Dnd41	blood
38	chr4:129474000-129474600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
39	chr4:129474000-129474600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:129474000-129474600	Active TSS	HepG2	liver
41	chr4:129474000-129474800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:129474000-129474800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:129474000-129474800	Active TSS	Primary B cells from cord blood	blood
44	chr4:129474000-129474800	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr4:129474000-129474800	Active TSS	Primary hematopoietic stem cells	blood
46	chr4:129474000-129474800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr4:129474000-129474800	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr4:129474000-129474800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr4:129474000-129474800	Active TSS	Fetal Intestine Large	intestine
50	chr4:129474000-129474800	Active TSS	Fetal Intestine Small	intestine

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