Variant report

Variant	rs10128959
Chromosome Location	chr12:62960880-62960881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62953259..62955146-chr12:62960204..62962337,2	K562	blood:
2	chr12:62952971..62956153-chr12:62959927..62961874,3	MCF-7	breast:
3	chr12:62960289..62962164-chr12:62965214..62967801,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000061987	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10128830	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10161549	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10219555	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10219765	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735907	0.88[EUR][1000 genomes]
rs10735909	0.87[EUR][1000 genomes]
rs10747963	0.80[ASN][1000 genomes]
rs10747966	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10784299	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10784302	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10784303	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10784306	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10784307	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877851	0.81[ASN][1000 genomes]
rs10877860	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10877863	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10877865	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877866	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877868	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10877869	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877872	0.84[ASN][1000 genomes]
rs10877873	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10877876	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877878	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877880	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877882	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10877883	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10877885	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877886	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877887	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10877888	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11174493	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11174497	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11174507	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11174513	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11174520	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11174534	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11174538	0.87[ASN][1000 genomes]
rs11174539	0.91[EUR][1000 genomes]
rs11174540	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11174541	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11174542	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11174545	0.85[ASN][1000 genomes]
rs11174550	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174559	0.82[ASN][1000 genomes]
rs11495588	0.82[ASN][1000 genomes]
rs12227568	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12300696	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12305077	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12309683	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12357	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12578200	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12580048	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12581171	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12809279	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12810119	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12829103	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1498713	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2029937	0.88[EUR][1000 genomes]
rs2047478	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2047479	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2141777	0.80[ASN][1000 genomes]
rs2220980	0.89[EUR][1000 genomes]
rs35409044	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4763021	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4763174	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4763177	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4763179	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4763180	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6581452	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6581454	0.88[ASN][1000 genomes]
rs7134302	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7136993	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71453871	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7294404	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7298782	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7302027	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7308021	0.80[ASN][1000 genomes]
rs7316612	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7957417	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7963657	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7975183	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7975560	0.90[EUR][1000 genomes];0.85[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	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62907000-62987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:62915800-62971600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:62917200-62995000	Weak transcription	Fetal Heart	heart
4	chr12:62919800-62970000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr12:62924400-62969800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr12:62924800-62967600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:62927400-62967400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:62928000-62963400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:62928800-62995800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:62938000-62995400	Weak transcription	Stomach Mucosa	stomach
11	chr12:62944600-62989000	Weak transcription	Colonic Mucosa	Colon
12	chr12:62945000-62966000	Weak transcription	Esophagus	oesophagus
13	chr12:62950200-62966800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:62950400-62995600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:62950600-62975000	Weak transcription	Right Ventricle	heart
16	chr12:62950600-62982600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:62950600-62991200	Weak transcription	Gastric	stomach
18	chr12:62950600-62996200	Weak transcription	Small Intestine	intestine
19	chr12:62950800-62968200	Weak transcription	Aorta	Aorta
20	chr12:62950800-62987600	Weak transcription	Pancreas	Pancrea
21	chr12:62950800-62995000	Weak transcription	NHEK	skin
22	chr12:62951000-62966000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:62951000-62987800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:62951000-62995600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:62951200-62961000	Weak transcription	Ovary	ovary
26	chr12:62951200-62971600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:62951200-62979600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:62951200-62986800	Weak transcription	Brain Angular Gyrus	brain
29	chr12:62951200-62988600	Weak transcription	Spleen	Spleen
30	chr12:62951200-62995200	Weak transcription	Hela-S3	cervix
31	chr12:62951200-62995600	Weak transcription	HSMMtube	muscle
32	chr12:62951400-62963000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:62951400-62966000	Weak transcription	Left Ventricle	heart
34	chr12:62951400-62966000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:62951400-62995000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:62953400-62996000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:62953600-62962200	Weak transcription	Fetal Intestine Small	intestine
38	chr12:62953600-62962200	Weak transcription	Fetal Stomach	stomach
39	chr12:62954800-62961000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:62954800-62961000	Weak transcription	Fetal Brain Female	brain
41	chr12:62954800-62966000	Weak transcription	Thymus	Thymus
42	chr12:62954800-62989000	Weak transcription	Lung	lung
43	chr12:62954800-62995600	Weak transcription	Brain Anterior Caudate	brain
44	chr12:62955000-62961000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:62955000-62968000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:62955000-62987800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:62955200-62962200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:62955200-62995200	Weak transcription	HepG2	liver
49	chr12:62955600-62995600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:62957000-62995600	Weak transcription	Fetal Brain Male	brain

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