Variant report

Variant	rs73854487
Chromosome Location	chr3:119044542-119044543
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:119044523-119044573	BJ	skin:	n/a
2	chr3:119044523-119044573	HCF	heart:	n/a
3	chr3:119044523-119044573	AG04449	skin:	fetal
4	chr3:119044523-119044573	HepG2	liver:	n/a
5	chr3:119044523-119044573	NB4	blood:	n/a
6	chr3:119044523-119044573	H1-hESC	embryonic stem cell:	embryo
7	chr3:119044523-119044573	U87	brain:	n/a
8	chr3:119044523-119044573	SAEC	small airway:	n/a
9	chr3:119044523-119044573	NH-A	brain:	n/a
10	chr3:119044523-119044573	BE2_C	brain:	n/a
11	chr3:119044523-119044573	PANC-1	pancreas:	n/a
12	chr3:119044523-119044573	LNCaP	prostate:	n/a
13	chr3:119044523-119044573	HRPEpiC	eye:	n/a
14	chr3:119044523-119044573	PrEC	prostate:	n/a
15	chr3:119044523-119044573	ProgFib	skin:	n/a
16	chr3:119044523-119044573	GM12892	blood:	n/a
17	chr3:119044523-119044573	ECC-1	luminal epithelium:	n/a
18	chr3:119044523-119044573	Caco-2	colon:	n/a
19	chr3:119044523-119044573	GM12891	blood:	n/a
20	chr3:119044523-119044573	SKMC	muscle:	n/a
21	chr3:119044523-119044573	NHBE	bronchial:	n/a
22	chr3:119044523-119044573	HNPCEpiC	eye:	n/a
23	chr3:119044523-119044573	A549	lung:	n/a
24	chr3:119044523-119044573	HEK293	kidney:	embryo
25	chr3:119044523-119044573	HUVEC	blood vessel:	n/a
26	chr3:119044523-119044573	NHDF-neo	bronchial:	n/a
27	chr3:119044523-119044573	AG09309	skin:	n/a
28	chr3:119044523-119044573	HCT-116	colon:	n/a
29	chr3:119044523-119044573	IMR90	lung:	fetal
30	chr3:119044523-119044573	AG10803	skin:	n/a
31	chr3:119044523-119044573	CMK	blood:	n/a
32	chr3:119044523-119044573	SK-N-MC	brain:	n/a
33	chr3:119044523-119044573	HPAEpiC	pulmonary alveolar:	n/a
34	chr3:119044523-119044573	GM19239	blood:	n/a
35	chr3:119044523-119044573	HMEC	breast:	n/a
36	chr3:119044523-119044573	GM06990	blood:	n/a
37	chr3:119044523-119044573	T-47D	breast:	n/a
38	chr3:119044523-119044573	HEEpiC	esophagus:	n/a
39	chr3:119044523-119044573	Hela-S3	cervix:	n/a
40	chr3:119044523-119044573	HIPEpiC	eye:	n/a
41	chr3:119044523-119044573	K562	blood:	n/a
42	chr3:119044523-119044573	MCF10A-Er-Src	breast:	n/a
43	chr3:119044523-119044573	Jurkat	blood:	n/a
44	chr3:119044523-119044573	HRCEpiC	kidney:	n/a
45	chr3:119044523-119044573	AG04450	lung:	fetal
46	chr3:119044523-119044573	AG09319	gingival:	n/a
47	chr3:119044523-119044573	MCF-7	breast:	n/a
48	chr3:119044523-119044573	HRE	kidney:	n/a
49	chr3:119044523-119044573	HCM	heart:	n/a
50	chr3:119044523-119044573	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119032938..119036654-chr3:119043766..119046984,5	MCF-7	breast:
2	chr3:119032410..119034718-chr3:119043849..119046722,2	K562	blood:

No data

Variant related genes	Relation type
ARHGAP31-AS1	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10222492	1.00[AMR][1000 genomes]
rs4687849	1.00[EUR][1000 genomes]
rs4687850	1.00[EUR][1000 genomes]
rs4687999	1.00[EUR][1000 genomes]
rs57797834	1.00[AMR][1000 genomes]
rs57828996	1.00[AMR][1000 genomes]
rs59988366	1.00[AMR][1000 genomes]
rs60900492	1.00[AMR][1000 genomes]
rs6650891	1.00[AMR][1000 genomes]
rs6803331	1.00[EUR][1000 genomes]
rs72960637	1.00[EUR][1000 genomes]
rs72960640	1.00[EUR][1000 genomes]
rs72960642	1.00[EUR][1000 genomes]
rs73854488	1.00[EUR][1000 genomes]
rs73854491	1.00[AMR][1000 genomes]
rs73854497	1.00[AMR][1000 genomes]
rs73857016	1.00[AMR][1000 genomes]
rs7646935	1.00[EUR][1000 genomes]
rs9830245	1.00[AMR][1000 genomes]
rs9850850	1.00[AMR][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119042600-119045200	Weak transcription	Brain Substantia Nigra	brain
2	chr3:119042600-119047200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:119042600-119047800	Weak transcription	Ovary	ovary
4	chr3:119042600-119048000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:119042600-119048000	Weak transcription	Brain Angular Gyrus	brain
6	chr3:119042600-119048000	Weak transcription	NH-A	brain
7	chr3:119042600-119048200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:119042600-119048400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:119042600-119048400	Weak transcription	Aorta	Aorta
10	chr3:119042600-119048600	Weak transcription	HSMM	muscle
11	chr3:119042600-119050000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:119042600-119050200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:119042600-119050400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:119042600-119050400	Weak transcription	HSMMtube	muscle
15	chr3:119042600-119050400	Weak transcription	NHEK	skin
16	chr3:119042600-119054000	Weak transcription	NHLF	lung
17	chr3:119042600-119055600	Weak transcription	Fetal Brain Male	brain
18	chr3:119042800-119045200	Weak transcription	Placenta	Placenta
19	chr3:119042800-119045400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:119042800-119045600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:119042800-119046600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:119042800-119047000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:119042800-119048000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:119042800-119048000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:119042800-119048000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:119042800-119048000	Weak transcription	Fetal Lung	lung
27	chr3:119042800-119048000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:119042800-119048000	Weak transcription	Right Atrium	heart
29	chr3:119042800-119048000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr3:119042800-119050400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:119042800-119050600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr3:119042800-119051600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr3:119042800-119051600	Weak transcription	Spleen	Spleen
34	chr3:119042800-119052800	Weak transcription	Colon Smooth Muscle	Colon
35	chr3:119042800-119053000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:119042800-119056000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:119042800-119070600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr3:119042800-119072000	Weak transcription	Thymus	Thymus
39	chr3:119043000-119045200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:119043000-119045200	Weak transcription	Adipose Nuclei	Adipose
41	chr3:119043000-119045200	Weak transcription	Fetal Thymus	thymus
42	chr3:119043000-119045400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr3:119043000-119046600	Weak transcription	Brain Hippocampus Middle	brain
44	chr3:119043000-119047000	Weak transcription	Fetal Stomach	stomach
45	chr3:119043000-119047400	Enhancers	GM12878-XiMat	blood
46	chr3:119043000-119048600	Weak transcription	Right Ventricle	heart
47	chr3:119043000-119050600	Weak transcription	Fetal Muscle Leg	muscle
48	chr3:119043000-119051600	Weak transcription	HUVEC	blood vessel
49	chr3:119043000-119069000	Weak transcription	Primary T cells from cord blood	blood
50	chr3:119043200-119045200	Weak transcription	Fetal Heart	heart

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