Variant report

Variant	rs72967414
Chromosome Location	chr3:53148810-53148811
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53130798..53133008-chr3:53147283..53149455,2	K562	blood:
2	chr3:53147481..53152677-chr3:53161701..53165714,6	MCF-7	breast:
3	chr3:53147149..53149237-chr3:53228020..53230160,2	K562	blood:
4	chr3:53147705..53149046-chr3:53229640..53231117,6	MCF-7	breast:
5	chr3:53148133..53149133-chr3:53270420..53271199,2	K562	blood:
6	chr3:53148456..53152429-chr3:53152734..53156128,3	K562	blood:
7	chr3:53147149..53149280-chr3:53227312..53230160,3	K562	blood:

Variant related genes	Relation type
ENSG00000163933	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12486028	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12633559	1.00[AMR][1000 genomes]
rs13064076	1.00[AMR][1000 genomes]
rs1991567	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2564925	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2564927	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2564943	0.93[AFR][1000 genomes]
rs2564946	1.00[AMR][1000 genomes]
rs2581781	1.00[AMR][1000 genomes]
rs2581814	1.00[AMR][1000 genomes]
rs2710315	1.00[AMR][1000 genomes]
rs2710327	1.00[AMR][1000 genomes]
rs4234640	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55654539	1.00[AMR][1000 genomes]
rs58561805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59234300	1.00[AMR][1000 genomes]
rs72967431	0.86[AFR][1000 genomes]
rs7629350	1.00[AMR][1000 genomes]
rs9869545	0.89[AFR][1000 genomes];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	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
2	nsv460553	chr3:53147576-53185061	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
3	nsv590357	chr3:53147576-53185061	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 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	chr3:53119000-53154200	Weak transcription	Stomach Mucosa	stomach
3	chr3:53122800-53152200	Weak transcription	Small Intestine	intestine
4	chr3:53124200-53151600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:53127000-53154200	Weak transcription	Right Atrium	heart
6	chr3:53133600-53152600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:53137400-53151400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:53137400-53161600	Strong transcription	Fetal Intestine Small	intestine
9	chr3:53138000-53151000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:53138400-53151400	Weak transcription	Gastric	stomach
11	chr3:53139000-53151200	Weak transcription	Colonic Mucosa	Colon
12	chr3:53139200-53151200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:53139200-53151400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:53139200-53157400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr3:53139400-53151200	Weak transcription	Esophagus	oesophagus
16	chr3:53139400-53151400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:53139600-53151400	Weak transcription	Aorta	Aorta
18	chr3:53140800-53149200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:53142800-53161000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:53143000-53149400	Strong transcription	GM12878-XiMat	blood
21	chr3:53143600-53150800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:53143600-53151000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:53143600-53151400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:53144000-53151000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:53144200-53151000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:53144200-53151000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr3:53144200-53151000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:53144400-53149600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:53144400-53149600	Weak transcription	Fetal Kidney	kidney
30	chr3:53144600-53149400	Weak transcription	Fetal Brain Female	brain
31	chr3:53145000-53151200	Weak transcription	Brain Germinal Matrix	brain
32	chr3:53145000-53161400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:53145400-53151400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:53145800-53161200	Strong transcription	Primary hematopoietic stem cells	blood
35	chr3:53146000-53151000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr3:53146200-53149400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:53146200-53151000	Weak transcription	Hela-S3	cervix
38	chr3:53146200-53151200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr3:53146400-53149600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr3:53146400-53151000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr3:53146600-53151000	Weak transcription	Fetal Brain Male	brain
42	chr3:53147200-53149800	Strong transcription	HepG2	liver
43	chr3:53147200-53150000	Enhancers	HMEC	breast
44	chr3:53147200-53160000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:53147400-53149200	Enhancers	NH-A	brain
46	chr3:53147400-53149400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:53147600-53160800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr3:53147800-53149000	Enhancers	HSMM	muscle
49	chr3:53147800-53149200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:53147800-53149200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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