Variant report

Variant	rs72951474
Chromosome Location	chr3:51595177-51595178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:51593552..51596365-chr3:51596602..51598437,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1480366	1.00[AMR][1000 genomes]
rs17051685	1.00[AMR][1000 genomes]
rs17051802	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4280628	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57019473	1.00[AMR][1000 genomes]
rs58075772	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58807639	1.00[AMR][1000 genomes]
rs59307262	1.00[AMR][1000 genomes]
rs60497133	1.00[AMR][1000 genomes]
rs61452834	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943888	1.00[AMR][1000 genomes]
rs72945711	1.00[AMR][1000 genomes]
rs72945738	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72945741	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951454	1.00[AMR][1000 genomes]
rs72951466	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951469	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951478	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951489	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953404	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953419	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953421	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs753452	0.82[AFR][1000 genomes]
rs880477	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS 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	53 gene(s)	inside rSNPs	diseases
2	nsv997264	chr3:51584056-51689648	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv536570	chr3:51584056-51689648	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv999553	chr3:51584056-51696052	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51574000-51597000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr3:51574000-51600600	Weak transcription	Gastric	stomach
3	chr3:51574000-51615400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:51574000-51624800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr3:51574200-51616400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:51574400-51613800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:51574600-51600800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:51574600-51601800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:51574600-51624600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:51574800-51597600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:51574800-51624800	Weak transcription	NH-A	brain
12	chr3:51575000-51597400	Weak transcription	Small Intestine	intestine
13	chr3:51575200-51615600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:51576000-51595400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:51576400-51597800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:51576400-51602000	Weak transcription	Brain Hippocampus Middle	brain
17	chr3:51577200-51597600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:51578600-51607000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:51578800-51597400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:51578800-51600200	Weak transcription	A549	lung
21	chr3:51578800-51624400	Weak transcription	Esophagus	oesophagus
22	chr3:51579000-51602000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr3:51579200-51602400	Weak transcription	HMEC	breast
24	chr3:51580000-51602600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:51584200-51600200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:51584200-51602200	Weak transcription	Pancreas	Pancrea
27	chr3:51584200-51602200	Weak transcription	Spleen	Spleen
28	chr3:51584200-51614200	Weak transcription	Aorta	Aorta
29	chr3:51584600-51597000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr3:51584800-51600200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:51584800-51602200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr3:51585000-51615600	Weak transcription	NHEK	skin
33	chr3:51585200-51624400	Weak transcription	Brain Germinal Matrix	brain
34	chr3:51585400-51602000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr3:51585800-51612400	Weak transcription	Fetal Thymus	thymus
36	chr3:51585800-51625000	Weak transcription	Colonic Mucosa	Colon
37	chr3:51586200-51600000	Weak transcription	Stomach Mucosa	stomach
38	chr3:51586400-51601800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr3:51586800-51595800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:51586800-51595800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:51587400-51595600	Strong transcription	Primary T cells from cord blood	blood
42	chr3:51587800-51607000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr3:51587800-51624400	Weak transcription	Hela-S3	cervix
44	chr3:51588000-51612600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:51588000-51640000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr3:51588200-51597000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:51588200-51597400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr3:51588200-51600600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr3:51588200-51612600	Weak transcription	Lung	lung
50	chr3:51588400-51599000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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