Variant report

Variant	rs72951472
Chromosome Location	chr3:51588181-51588182
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	chr3:51429373..51431987-chr3:51587416..51589959,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11720298	0.82[AFR][1000 genomes]
rs12330534	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13314120	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13321674	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13433729	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17051799	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17081501	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28421789	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28452990	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28457212	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28653367	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2883900	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4549265	1.00[AMR][1000 genomes]
rs56942057	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59064710	1.00[ASN][1000 genomes]
rs59525691	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60823123	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61440245	1.00[ASN][1000 genomes]
rs61737032	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951441	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951452	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72953413	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72953417	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72953419	1.00[ASN][1000 genomes]
rs72953421	1.00[ASN][1000 genomes]
rs72953423	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72953429	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7627636	1.00[ASN][1000 genomes]
rs904144	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9311470	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9808940	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9809757	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9812008	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9812682	1.00[ASN][1000 genomes]
rs9815684	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9816075	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9824779	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9826664	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9827665	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9827917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9838294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9838942	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9838994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9839516	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9839608	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9840331	1.00[AMR][1000 genomes]
rs9842066	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9844541	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9846343	1.00[ASN][1000 genomes]
rs9855809	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9857893	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9858497	1.00[AMR][1000 genomes]
rs9864213	1.00[AMR][1000 genomes]
rs9864952	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9866513	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9866604	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9870147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9875460	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9880050	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9880909	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9881402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9881844	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9882601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9990341	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51573800-51594000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:51574000-51590800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:51574000-51593800	Weak transcription	Right Ventricle	heart
4	chr3:51574000-51597000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:51574000-51600600	Weak transcription	Gastric	stomach
6	chr3:51574000-51615400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:51574000-51624800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:51574200-51616400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:51574400-51593200	Weak transcription	Brain Angular Gyrus	brain
10	chr3:51574400-51613800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr3:51574600-51590800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr3:51574600-51593200	Weak transcription	Brain Anterior Caudate	brain
13	chr3:51574600-51593200	Weak transcription	NHLF	lung
14	chr3:51574600-51593400	Weak transcription	HSMMtube	muscle
15	chr3:51574600-51593800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:51574600-51593800	Weak transcription	Left Ventricle	heart
17	chr3:51574600-51594400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:51574600-51600800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:51574600-51601800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:51574600-51624600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr3:51574800-51591000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:51574800-51597600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr3:51574800-51624800	Weak transcription	NH-A	brain
24	chr3:51575000-51597400	Weak transcription	Small Intestine	intestine
25	chr3:51575200-51615600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:51575600-51593200	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:51576000-51595400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr3:51576200-51593000	Strong transcription	Fetal Stomach	stomach
29	chr3:51576400-51593200	Weak transcription	HSMM	muscle
30	chr3:51576400-51597800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr3:51576400-51602000	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:51577200-51597600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:51578600-51591400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:51578600-51607000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr3:51578800-51593400	Weak transcription	NHDF-Ad	bronchial
36	chr3:51578800-51597400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr3:51578800-51600200	Weak transcription	A549	lung
38	chr3:51578800-51624400	Weak transcription	Esophagus	oesophagus
39	chr3:51579000-51593600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:51579000-51602000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr3:51579200-51602400	Weak transcription	HMEC	breast
42	chr3:51579600-51589800	Strong transcription	Fetal Intestine Small	intestine
43	chr3:51580000-51602600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:51581200-51591200	Strong transcription	Stomach Smooth Muscle	stomach
45	chr3:51582000-51591200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:51582600-51590000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:51583800-51589200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr3:51583800-51591600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:51584000-51588400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:51584000-51589600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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