Variant report

Variant	rs7138063
Chromosome Location	chr12:50825759-50825760
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	chr12:50825190..50827072-chr12:50827327..50828879,2	K562	blood:
2	chr12:50812613..50814185-chr12:50823081..50825818,2	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10506293	0.85[ASN][1000 genomes]
rs10735825	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10747580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10747581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10783362	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10876030	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10876034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169408	0.82[ASN][1000 genomes]
rs11169422	0.96[ASN][1000 genomes]
rs11169427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169440	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11610442	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12099511	0.89[ASN][1000 genomes]
rs12307602	0.89[ASN][1000 genomes]
rs12578525	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12824882	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17119774	0.86[ASN][1000 genomes]
rs17119778	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17124672	0.86[ASN][1000 genomes]
rs17531020	0.86[ASN][1000 genomes]
rs4238104	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4257057	0.89[ASN][1000 genomes]
rs4298982	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4351895	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4450234	0.93[ASN][1000 genomes]
rs4768877	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4768878	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768879	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768880	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768928	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768936	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56671180	0.93[ASN][1000 genomes]
rs56989201	0.82[ASN][1000 genomes]
rs57283487	0.89[ASN][1000 genomes]
rs57293958	0.96[ASN][1000 genomes]
rs57811009	0.88[ASN][1000 genomes]
rs57828015	0.96[ASN][1000 genomes]
rs58500867	0.89[ASN][1000 genomes]
rs58869591	0.85[ASN][1000 genomes]
rs58888905	0.89[ASN][1000 genomes]
rs58915267	0.80[ASN][1000 genomes]
rs58916974	0.88[ASN][1000 genomes]
rs59696942	0.95[ASN][1000 genomes]
rs59968707	0.95[ASN][1000 genomes]
rs60010359	0.89[ASN][1000 genomes]
rs60198651	0.93[ASN][1000 genomes]
rs60201334	0.96[ASN][1000 genomes]
rs60242613	0.96[ASN][1000 genomes]
rs60420087	0.88[ASN][1000 genomes]
rs60610745	0.83[ASN][1000 genomes]
rs60743903	0.95[ASN][1000 genomes]
rs61578731	0.95[ASN][1000 genomes]
rs6580753	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6580754	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7133488	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7135159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7295610	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7295698	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7296212	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7299321	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7304017	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7304262	0.92[ASN][1000 genomes]
rs7310094	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7955176	0.96[ASN][1000 genomes]
rs7957033	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7965165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7974480	0.86[ASN][1000 genomes]
rs7978625	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
7	nsv469376	chr12:50792846-50856613	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
8	nsv558841	chr12:50792846-50856613	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
9	nsv470291	chr12:50792846-50858820	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50796800-50832600	Weak transcription	Brain Substantia Nigra	brain
2	chr12:50797600-50826200	Weak transcription	NHDF-Ad	bronchial
3	chr12:50797600-50826800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:50797600-50829600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:50809600-50872200	Weak transcription	Fetal Brain Male	brain
6	chr12:50810600-50856600	Weak transcription	Aorta	Aorta
7	chr12:50812000-50827600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:50815800-50834400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:50819200-50827200	Strong transcription	Fetal Intestine Small	intestine
10	chr12:50819200-50830200	Strong transcription	Fetal Stomach	stomach
11	chr12:50819200-50870800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:50819800-50830000	Weak transcription	Fetal Heart	heart
13	chr12:50819800-50842400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:50819800-50867400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:50820000-50831600	Weak transcription	Psoas Muscle	Psoas
16	chr12:50820000-50835400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:50820000-50835600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:50820000-50841400	Weak transcription	Esophagus	oesophagus
19	chr12:50820000-50845400	Weak transcription	Right Atrium	heart
20	chr12:50820000-50867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:50820200-50835200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:50820200-50869800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:50820200-50871000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:50820400-50830000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:50820600-50839400	Strong transcription	Fetal Thymus	thymus
26	chr12:50820600-50843400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:50820800-50839600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:50821000-50839600	Strong transcription	Hela-S3	cervix
29	chr12:50821000-50841600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:50821000-50843000	Strong transcription	Placenta	Placenta
31	chr12:50821000-50850600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:50821200-50830200	Strong transcription	Fetal Muscle Leg	muscle
33	chr12:50821200-50845000	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr12:50821200-50848200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr12:50821400-50845200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:50821600-50830000	Strong transcription	Left Ventricle	heart
37	chr12:50821600-50830200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:50821600-50830400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:50821600-50836200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:50821600-50836800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:50821600-50836800	Strong transcription	A549	lung
42	chr12:50821600-50839600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:50821600-50839600	Strong transcription	Adipose Nuclei	Adipose
44	chr12:50821600-50842800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr12:50821600-50850200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:50821600-50850200	Strong transcription	Fetal Intestine Large	intestine
47	chr12:50821600-50850600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:50821600-50850600	Strong transcription	Dnd41	blood
49	chr12:50821600-50850600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr12:50821600-50850800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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