Variant report

Variant	rs72932236
Chromosome Location	chr4:129489861-129489862
allele	C/T
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:129489796..129491708-chr4:129731783..129734421,2	K562	blood:
2	chr4:129488347..129490310-chr4:129494247..129495821,2	MCF-7	breast:
3	chr4:129488526..129491708-chr4:129730813..129734421,3	K562	blood:
4	chr4:129483750..129486911-chr4:129488780..129490934,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PGRMC2-1	chr4:129489127-129490442	XLOC_004072
2	lnc-PGRMC2-1	chr4:129489127-129490442	ENSG00000248187

No data

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11098972	1.00[EUR][1000 genomes]
rs1216403	1.00[EUR][1000 genomes]
rs1216414	1.00[EUR][1000 genomes]
rs1216421	1.00[EUR][1000 genomes]
rs1216429	1.00[EUR][1000 genomes]
rs1216430	1.00[EUR][1000 genomes]
rs17013448	1.00[EUR][1000 genomes]
rs185993	1.00[EUR][1000 genomes]
rs209981	1.00[EUR][1000 genomes]
rs56317429	1.00[EUR][1000 genomes]
rs72932261	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73850337	1.00[EUR][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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129476400-129491200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:129480800-129490000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:129480800-129490200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:129481000-129490200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:129481000-129493800	Weak transcription	Aorta	Aorta
6	chr4:129481200-129490200	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:129481400-129493800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:129482800-129491200	Weak transcription	Right Atrium	heart
9	chr4:129482800-129494000	Weak transcription	Stomach Mucosa	stomach
10	chr4:129482800-129498200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:129483800-129494800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:129485000-129493000	Enhancers	A549	lung
13	chr4:129485200-129492400	Weak transcription	Adipose Nuclei	Adipose
14	chr4:129487400-129490200	Enhancers	Osteobl	bone
15	chr4:129487400-129491000	Weak transcription	K562	blood
16	chr4:129487400-129496200	Enhancers	NHDF-Ad	bronchial
17	chr4:129487600-129490200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:129487600-129490200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:129487600-129490600	Weak transcription	Fetal Intestine Small	intestine
20	chr4:129487600-129491400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:129487600-129492600	Weak transcription	Fetal Intestine Large	intestine
22	chr4:129487800-129491200	Weak transcription	Lung	lung
23	chr4:129487800-129491200	Weak transcription	Pancreas	Pancrea
24	chr4:129488000-129491400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:129488400-129490000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:129488400-129490000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:129488400-129491000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:129488400-129491200	Weak transcription	NH-A	brain
29	chr4:129488400-129491400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:129488600-129490000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:129488600-129490000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:129488600-129490000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:129488600-129490000	Weak transcription	NHLF	lung
34	chr4:129488600-129490200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:129488600-129490600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:129488600-129490800	Weak transcription	HUVEC	blood vessel
37	chr4:129488600-129491200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:129488800-129490000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:129488800-129490000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:129488800-129494200	Weak transcription	Fetal Heart	heart
41	chr4:129489000-129490000	Weak transcription	Ovary	ovary
42	chr4:129489000-129490200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:129489000-129490200	Weak transcription	HSMM	muscle
44	chr4:129489000-129490200	Weak transcription	HSMMtube	muscle
45	chr4:129489000-129491200	Weak transcription	Small Intestine	intestine
46	chr4:129489000-129491800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr4:129489000-129493800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:129489000-129494400	Weak transcription	Fetal Muscle Leg	muscle
49	chr4:129489200-129491600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:129489400-129490000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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