Variant report

Variant	rs4234640
Chromosome Location	chr3:53137370-53137371
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr3:53136740-53137385	GM12878	blood:	n/a	chr3:53136837-53136846

No.	Distal block	Cell Line	Cell type
1	chr3:53127951..53129779-chr3:53135575..53137471,2	K562	blood:
2	chr3:53137358..53139996-chr3:53159100..53161040,2	K562	blood:
3	chr3:53132181..53134666-chr3:53136368..53138865,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272305	TF binding region
ENSG00000272305	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12486028	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12633559	1.00[AMR][1000 genomes]
rs13064076	1.00[AMR][1000 genomes]
rs1991567	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2336161	1.00[EUR][1000 genomes]
rs2564925	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2564927	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2564943	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2564946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2581781	1.00[AMR][1000 genomes]
rs2581814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710315	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710316	1.00[EUR][1000 genomes]
rs2710327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710340	1.00[EUR][1000 genomes]
rs4687685	1.00[EUR][1000 genomes]
rs4687690	1.00[EUR][1000 genomes]
rs55654539	1.00[AMR][1000 genomes]
rs57430179	1.00[EUR][1000 genomes]
rs58561805	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59094265	1.00[EUR][1000 genomes]
rs59234300	1.00[AMR][1000 genomes]
rs61274383	1.00[EUR][1000 genomes]
rs61641433	1.00[EUR][1000 genomes]
rs6445548	1.00[EUR][1000 genomes]
rs6795138	1.00[EUR][1000 genomes]
rs6797070	1.00[EUR][1000 genomes]
rs72961745	1.00[EUR][1000 genomes]
rs72961755	1.00[EUR][1000 genomes]
rs72967404	1.00[EUR][1000 genomes]
rs72967414	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7629350	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7652175	1.00[EUR][1000 genomes]
rs9815408	1.00[EUR][1000 genomes]
rs9833487	1.00[EUR][1000 genomes]
rs9846827	1.00[EUR][1000 genomes]
rs9869545	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv590356	chr3:53134098-53170500	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53107800-53151400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:53117800-53147200	Weak transcription	Psoas Muscle	Psoas
3	chr3:53119000-53154200	Weak transcription	Stomach Mucosa	stomach
4	chr3:53120400-53138600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:53120800-53138400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:53120800-53144400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:53121400-53142600	Strong transcription	Stomach Smooth Muscle	stomach
8	chr3:53121800-53137800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr3:53122400-53143200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:53122800-53152200	Weak transcription	Small Intestine	intestine
11	chr3:53123200-53138800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:53123200-53148600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr3:53124200-53151600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:53124800-53139400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:53127000-53154200	Weak transcription	Right Atrium	heart
16	chr3:53127400-53144000	Weak transcription	Fetal Heart	heart
17	chr3:53130800-53146400	Strong transcription	Fetal Intestine Large	intestine
18	chr3:53131200-53139200	Strong transcription	Dnd41	blood
19	chr3:53131400-53137400	Strong transcription	Adipose Nuclei	Adipose
20	chr3:53131600-53137800	Strong transcription	Primary hematopoietic stem cells	blood
21	chr3:53131600-53138600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:53131600-53139600	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr3:53131600-53140800	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr3:53131600-53144000	Strong transcription	Liver	Liver
25	chr3:53131800-53138400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:53131800-53139400	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr3:53131800-53140800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:53132000-53137800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:53132000-53139600	Strong transcription	Aorta	Aorta
30	chr3:53132000-53139600	Strong transcription	Thymus	Thymus
31	chr3:53132000-53141800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:53132000-53148000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr3:53132200-53140200	Strong transcription	Right Ventricle	heart
34	chr3:53132400-53139400	Strong transcription	Ovary	ovary
35	chr3:53132400-53139800	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr3:53132800-53139200	Strong transcription	Brain Angular Gyrus	brain
37	chr3:53133000-53138200	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr3:53133000-53138400	Strong transcription	Gastric	stomach
39	chr3:53133000-53139600	Strong transcription	Left Ventricle	heart
40	chr3:53133600-53137400	Weak transcription	Hela-S3	cervix
41	chr3:53133600-53138000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:53133600-53152600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr3:53133800-53137600	Weak transcription	HUVEC	blood vessel
44	chr3:53133800-53139200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
45	chr3:53133800-53144000	Weak transcription	Fetal Kidney	kidney
46	chr3:53134000-53139200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:53134600-53138800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
48	chr3:53134800-53143600	Strong transcription	Placenta	Placenta
49	chr3:53135000-53137400	Enhancers	K562	blood
50	chr3:53135000-53137800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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