Variant report

Variant	rs72953413
Chromosome Location	chr3:51695290-51695291
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:51692768..51695628-chr3:51701276..51703775,2	K562	blood:
2	chr3:51694128..51695719-chr3:51702275..51704283,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs12330534	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13314120	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13321674	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13433729	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17051799	0.85[AMR][1000 genomes]
rs17051832	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17081501	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28421789	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28452990	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28457212	0.85[AMR][1000 genomes]
rs28653367	0.85[AMR][1000 genomes]
rs2883900	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4549265	0.85[AMR][1000 genomes]
rs56942057	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59064710	1.00[ASN][1000 genomes]
rs59525691	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60823123	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61440245	1.00[ASN][1000 genomes]
rs61737032	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951441	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951452	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951472	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951485	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951486	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72953417	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72953419	1.00[ASN][1000 genomes]
rs72953421	1.00[ASN][1000 genomes]
rs72953423	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72953429	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7627636	1.00[ASN][1000 genomes]
rs904144	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9311470	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9808940	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9809757	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9812008	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9812682	1.00[ASN][1000 genomes]
rs9815684	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9816075	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9824779	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9826664	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9827665	0.85[AMR][1000 genomes]
rs9827917	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9838294	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9838942	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9838994	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9839516	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9839608	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9840331	0.85[AMR][1000 genomes]
rs9842066	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9844541	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9846343	1.00[ASN][1000 genomes]
rs9855809	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9857893	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9858497	0.85[AMR][1000 genomes]
rs9864213	0.85[AMR][1000 genomes]
rs9864952	1.00[ASN][1000 genomes]
rs9866513	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9866604	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9870147	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9875460	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9880050	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9880909	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9881402	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9881844	0.85[AMR][1000 genomes]
rs9882601	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9990341	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51680000-51696000	Weak transcription	A549	lung
2	chr3:51680800-51702800	Weak transcription	K562	blood
3	chr3:51681000-51697000	Weak transcription	Stomach Mucosa	stomach
4	chr3:51681600-51703200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:51682200-51704400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:51682400-51696200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:51682400-51696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:51682400-51696600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:51682600-51702800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:51687800-51698000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:51687800-51698600	Strong transcription	Primary T cells from cord blood	blood
12	chr3:51687800-51699400	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:51687800-51700000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:51687800-51700200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:51688000-51695400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:51688000-51697400	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:51688000-51698200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:51688000-51701000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:51688000-51701800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:51688000-51702200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:51688000-51702400	Strong transcription	Fetal Stomach	stomach
22	chr3:51688200-51700000	Strong transcription	Placenta	Placenta
23	chr3:51688400-51698400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:51688600-51695400	Strong transcription	Fetal Intestine Small	intestine
25	chr3:51688600-51697800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr3:51688600-51698000	Strong transcription	Thymus	Thymus
27	chr3:51688600-51698400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:51688600-51698400	Strong transcription	Adipose Nuclei	Adipose
29	chr3:51688600-51700000	Strong transcription	Fetal Intestine Large	intestine
30	chr3:51688600-51700200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr3:51688600-51701200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr3:51688800-51698000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr3:51688800-51700200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:51688800-51700600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr3:51689000-51695400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:51689000-51695400	Strong transcription	Lung	lung
37	chr3:51689000-51696600	Weak transcription	Right Ventricle	heart
38	chr3:51689000-51697600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr3:51689000-51697600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:51689000-51699000	Strong transcription	Brain Hippocampus Middle	brain
41	chr3:51689000-51699600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr3:51689000-51700600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:51689200-51698800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:51689200-51699600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr3:51689200-51700200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:51689400-51697800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr3:51689400-51697800	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:51689400-51698000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr3:51689400-51698400	Strong transcription	Dnd41	blood
50	chr3:51689400-51698600	Strong transcription	Duodenum Mucosa	Duodenum

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