Variant report

Variant	rs72965401
Chromosome Location	chr3:53141837-53141838
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53139091..53142034-chr3:53144665..53147558,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3891626	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58624586	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6785768	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6787566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6798092	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965386	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965387	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965388	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965394	0.97[AFR][1000 genomes];1.00[AMR][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	chr3:53121400-53142600	Strong transcription	Stomach Smooth Muscle	stomach
6	chr3:53122400-53143200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:53122800-53152200	Weak transcription	Small Intestine	intestine
8	chr3:53123200-53148600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr3:53124200-53151600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:53127000-53154200	Weak transcription	Right Atrium	heart
11	chr3:53127400-53144000	Weak transcription	Fetal Heart	heart
12	chr3:53130800-53146400	Strong transcription	Fetal Intestine Large	intestine
13	chr3:53131600-53144000	Strong transcription	Liver	Liver
14	chr3:53132000-53148000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr3:53133600-53152600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:53133800-53144000	Weak transcription	Fetal Kidney	kidney
17	chr3:53134800-53143600	Strong transcription	Placenta	Placenta
18	chr3:53135000-53144600	Strong transcription	Lung	lung
19	chr3:53135200-53143000	Strong transcription	Fetal Stomach	stomach
20	chr3:53135200-53146000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:53135600-53143200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr3:53135600-53146200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:53136600-53145600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:53136800-53143400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr3:53137200-53143800	Weak transcription	A549	lung
26	chr3:53137200-53146200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr3:53137400-53143000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:53137400-53143600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:53137400-53144000	Weak transcription	K562	blood
30	chr3:53137400-53151400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:53137400-53161600	Strong transcription	Fetal Intestine Small	intestine
32	chr3:53137600-53147800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:53137800-53143000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr3:53138000-53151000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:53138200-53143000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr3:53138200-53143200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:53138200-53143200	Strong transcription	Fetal Muscle Leg	muscle
38	chr3:53138200-53143800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr3:53138400-53142800	Weak transcription	Pancreas	Pancrea
40	chr3:53138400-53143400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr3:53138400-53143600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr3:53138400-53146200	Weak transcription	Fetal Brain Male	brain
43	chr3:53138400-53151400	Weak transcription	Gastric	stomach
44	chr3:53138600-53142800	Weak transcription	NHEK	skin
45	chr3:53138600-53143400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr3:53139000-53143000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:53139000-53143000	Weak transcription	NH-A	brain
48	chr3:53139000-53143000	Weak transcription	Osteobl	bone
49	chr3:53139000-53143800	Weak transcription	Primary B cells from cord blood	blood
50	chr3:53139000-53148200	Weak transcription	HUVEC	blood vessel

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