Variant report

Variant	rs72967404
Chromosome Location	chr3:53143378-53143379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53142648..53144923-chr3:53231670..53234121,2	MCF-7	breast:
2	chr3:53143125..53145755-chr3:53162065..53164725,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163933	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12486028	1.00[EUR][1000 genomes]
rs1991567	1.00[EUR][1000 genomes]
rs2336161	1.00[EUR][1000 genomes]
rs2564925	1.00[EUR][1000 genomes]
rs2564927	1.00[EUR][1000 genomes]
rs2564943	1.00[EUR][1000 genomes]
rs2564946	1.00[EUR][1000 genomes]
rs2581804	0.81[AFR][1000 genomes]
rs2581814	1.00[EUR][1000 genomes]
rs2710315	1.00[EUR][1000 genomes]
rs2710316	1.00[EUR][1000 genomes]
rs2710327	1.00[EUR][1000 genomes]
rs2710340	1.00[EUR][1000 genomes]
rs35221142	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4234640	1.00[EUR][1000 genomes]
rs4687685	1.00[EUR][1000 genomes]
rs4687690	1.00[EUR][1000 genomes]
rs57430179	1.00[EUR][1000 genomes]
rs60993884	0.94[AFR][1000 genomes];1.00[AMR][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]
rs72967422	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7629350	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	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	chr3:53120800-53144400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:53122800-53152200	Weak transcription	Small Intestine	intestine
6	chr3:53123200-53148600	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr3:53124200-53151600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:53127000-53154200	Weak transcription	Right Atrium	heart
9	chr3:53127400-53144000	Weak transcription	Fetal Heart	heart
10	chr3:53130800-53146400	Strong transcription	Fetal Intestine Large	intestine
11	chr3:53131600-53144000	Strong transcription	Liver	Liver
12	chr3:53132000-53148000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr3:53133600-53152600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:53133800-53144000	Weak transcription	Fetal Kidney	kidney
15	chr3:53134800-53143600	Strong transcription	Placenta	Placenta
16	chr3:53135000-53144600	Strong transcription	Lung	lung
17	chr3:53135200-53146000	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:53135600-53146200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:53136600-53145600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:53136800-53143400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr3:53137200-53143800	Weak transcription	A549	lung
22	chr3:53137200-53146200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr3:53137400-53143600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:53137400-53144000	Weak transcription	K562	blood
25	chr3:53137400-53151400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:53137400-53161600	Strong transcription	Fetal Intestine Small	intestine
27	chr3:53137600-53147800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:53138000-53151000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:53138200-53143800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr3:53138400-53143400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr3:53138400-53143600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr3:53138400-53146200	Weak transcription	Fetal Brain Male	brain
33	chr3:53138400-53151400	Weak transcription	Gastric	stomach
34	chr3:53138600-53143400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr3:53139000-53143800	Weak transcription	Primary B cells from cord blood	blood
36	chr3:53139000-53148200	Weak transcription	HUVEC	blood vessel
37	chr3:53139000-53151200	Weak transcription	Colonic Mucosa	Colon
38	chr3:53139200-53143400	Weak transcription	Brain Angular Gyrus	brain
39	chr3:53139200-53143600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:53139200-53143600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr3:53139200-53143800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:53139200-53144000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr3:53139200-53145600	Weak transcription	Hela-S3	cervix
44	chr3:53139200-53147400	Weak transcription	NHLF	lung
45	chr3:53139200-53147600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:53139200-53151200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:53139200-53151400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr3:53139200-53157400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr3:53139400-53147800	Weak transcription	Ovary	ovary
50	chr3:53139400-53151200	Weak transcription	Esophagus	oesophagus

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