Variant report

Variant	rs1057063
Chromosome Location	chr2:101008567-101008568
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:101005691..101009453-chr2:101017314..101020656,3	MCF-7	breast:
2	chr2:101007069..101008727-chr2:101012346..101015344,2	MCF-7	breast:
3	chr2:100889322..100890930-chr2:101005825..101008578,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10167159	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10172841	0.97[ASN][1000 genomes]
rs10176978	0.81[ASN][1000 genomes]
rs10180570	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10180685	0.97[ASN][1000 genomes]
rs10183063	0.93[ASN][1000 genomes]
rs10184899	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10193535	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10206374	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1057056	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1124009	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13391930	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13396147	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13400841	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13404823	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13407408	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13407648	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13407891	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13410582	0.83[AMR][1000 genomes]
rs13419808	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1347721	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1370627	1.00[EUR][1000 genomes]
rs1437972	0.95[ASN][1000 genomes]
rs17024034	0.90[ASN][1000 genomes]
rs17024129	0.83[AMR][1000 genomes]
rs17024136	0.83[AMR][1000 genomes]
rs17024144	0.83[AMR][1000 genomes]
rs17024209	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1898571	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1898573	0.93[ASN][1000 genomes]
rs2083148	0.90[ASN][1000 genomes]
rs2309801	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3748936	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3791358	0.93[ASN][1000 genomes]
rs4149506	0.97[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4149509	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4149514	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4149515	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4149516	0.97[ASN][1000 genomes]
rs4850932	0.97[ASN][1000 genomes]
rs55640826	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55843950	0.83[AMR][1000 genomes]
rs55932868	0.90[ASN][1000 genomes]
rs56118658	0.83[AMR][1000 genomes]
rs56656536	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56741959	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57862179	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58164864	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58674788	0.90[ASN][1000 genomes]
rs58876304	0.82[AFR][1000 genomes]
rs59340778	1.00[EUR][1000 genomes]
rs59701896	0.90[ASN][1000 genomes]
rs59858985	0.90[ASN][1000 genomes]
rs60131548	0.82[AFR][1000 genomes]
rs60468180	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60566188	0.90[ASN][1000 genomes]
rs60609848	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60898093	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61321970	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61559573	1.00[EUR][1000 genomes]
rs61710328	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6542933	0.90[ASN][1000 genomes]
rs6542945	0.95[ASN][1000 genomes]
rs6542946	0.95[ASN][1000 genomes]
rs6706707	0.90[ASN][1000 genomes]
rs6713862	0.82[AFR][1000 genomes]
rs6716009	0.83[AMR][1000 genomes]
rs6716367	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6724695	0.83[AMR][1000 genomes]
rs6725672	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6728575	0.90[ASN][1000 genomes]
rs6736938	0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6738566	0.93[ASN][1000 genomes]
rs6739589	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749572	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6754869	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6755285	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6757774	0.82[AFR][1000 genomes]
rs6758161	0.83[AMR][1000 genomes]
rs6758622	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6761084	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72960184	0.83[AMR][1000 genomes]
rs72960186	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72960202	0.83[AMR][1000 genomes]
rs73966105	0.90[ASN][1000 genomes]
rs73966106	0.90[ASN][1000 genomes]
rs73968413	0.90[ASN][1000 genomes]
rs7559084	0.90[ASN][1000 genomes]
rs7559939	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7559946	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7561065	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7562184	0.90[ASN][1000 genomes]
rs7562461	0.83[AMR][1000 genomes]
rs7562479	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7562486	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7562615	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7562636	0.90[ASN][1000 genomes]
rs7562754	0.90[ASN][1000 genomes]
rs7564178	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7565502	0.90[ASN][1000 genomes]
rs7567130	0.93[ASN][1000 genomes]
rs7571410	0.90[ASN][1000 genomes]
rs7571651	0.90[ASN][1000 genomes]
rs7571659	0.97[ASN][1000 genomes]
rs7572119	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7574684	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7575422	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7576749	0.83[AMR][1000 genomes]
rs7582096	0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7582546	0.83[AMR][1000 genomes]
rs7585713	0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7585898	0.83[AMR][1000 genomes]
rs7587333	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7596483	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7598205	0.90[ASN][1000 genomes]
rs7598227	0.90[ASN][1000 genomes]
rs7605834	0.90[ASN][1000 genomes]
rs876439	0.90[ASN][1000 genomes]
rs9308834	0.93[AMR][1000 genomes];1.00[EUR][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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv874701	chr2:100976139-101023261	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100993200-101017800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:100998200-101008800	Weak transcription	GM12878-XiMat	blood
3	chr2:100998200-101009000	Weak transcription	A549	lung
4	chr2:100998200-101022600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:100998400-101010000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr2:101000400-101009400	Weak transcription	HepG2	liver
7	chr2:101002000-101009000	Weak transcription	Gastric	stomach
8	chr2:101002000-101023400	Weak transcription	Psoas Muscle	Psoas
9	chr2:101002400-101012000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:101003200-101021000	Weak transcription	K562	blood
11	chr2:101005200-101015000	Strong transcription	Fetal Brain Female	brain
12	chr2:101005600-101008600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:101005600-101017600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:101005600-101032800	Weak transcription	HUVEC	blood vessel
15	chr2:101005800-101033000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:101006000-101008600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:101006000-101009200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:101006000-101021600	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:101006400-101018400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:101006600-101008600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:101006600-101009000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:101006600-101009000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:101006600-101023600	Strong transcription	Brain Germinal Matrix	brain
24	chr2:101006600-101031600	Strong transcription	Fetal Stomach	stomach
25	chr2:101006800-101014800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:101007000-101008600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:101007000-101025000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:101007000-101027200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr2:101007200-101011200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:101007200-101015400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:101007200-101018600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:101007200-101032000	Weak transcription	NHDF-Ad	bronchial
33	chr2:101007400-101009600	Weak transcription	Fetal Kidney	kidney
34	chr2:101007400-101010800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:101007400-101011800	Weak transcription	Fetal Intestine Large	intestine
36	chr2:101007400-101014600	Strong transcription	Brain Cingulate Gyrus	brain
37	chr2:101007400-101014800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:101007400-101021600	Weak transcription	HSMMtube	muscle
39	chr2:101007600-101008600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:101007600-101009000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:101007600-101009200	Weak transcription	Brain Substantia Nigra	brain
42	chr2:101007600-101010400	Strong transcription	Left Ventricle	heart
43	chr2:101007600-101012800	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr2:101007600-101013600	Strong transcription	Adipose Nuclei	Adipose
45	chr2:101007600-101013800	Strong transcription	Thymus	Thymus
46	chr2:101007600-101014800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:101007600-101014800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:101007600-101014800	Strong transcription	Fetal Intestine Small	intestine
49	chr2:101007600-101015000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:101007600-101015400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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