Variant report

Variant	rs1498713
Chromosome Location	chr12:62910714-62910715
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	chr12:62859503..62861171-chr12:62910614..62912246,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000061987	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10128830	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10128959	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10161549	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10219555	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10219765	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10735907	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10735909	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10747963	0.91[ASN][1000 genomes]
rs10747965	0.87[ASN][1000 genomes]
rs10747966	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10784299	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10784302	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10784303	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10784306	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10784307	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10877851	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10877860	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10877863	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10877865	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877868	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877869	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10877872	0.88[ASN][1000 genomes]
rs10877873	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877876	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10877878	0.88[EUR][1000 genomes]
rs10877880	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877883	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877885	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877886	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877887	0.85[ASN][1000 genomes]
rs11174493	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174497	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11174507	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11174513	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11174520	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11174534	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174538	0.87[ASN][1000 genomes]
rs11174539	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11174540	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174541	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174542	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174550	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11495588	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12227568	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12300696	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12305077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12309683	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12357	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12371971	0.83[ASN][1000 genomes]
rs12371972	0.83[ASN][1000 genomes]
rs12578200	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12580048	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12581171	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12809279	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12810119	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12829103	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2029937	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2047478	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2047479	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2141777	0.91[ASN][1000 genomes]
rs2220980	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35409044	0.83[EUR][1000 genomes]
rs4763021	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4763174	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4763177	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4763179	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4763180	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6581452	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6581454	0.93[ASN][1000 genomes]
rs7134302	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7136993	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71453871	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7294404	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7298782	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7302027	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7308021	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7316612	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7957417	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7963657	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7975183	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7975560	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv899158	chr12:62783967-62937259	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	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
5	nsv469418	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv559156	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3390559	chr12:62902734-62920842	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62863200-62937400	Weak transcription	Pancreas	Pancrea
2	chr12:62863400-62911000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:62863600-62926400	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:62866600-62912400	Weak transcription	NHLF	lung
5	chr12:62866600-62953200	Weak transcription	Psoas Muscle	Psoas
6	chr12:62871000-62910800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:62871800-62926200	Weak transcription	Fetal Brain Male	brain
8	chr12:62874600-62917400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:62876000-62937400	Weak transcription	Gastric	stomach
10	chr12:62876200-62913000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:62879000-62912000	Weak transcription	Brain Angular Gyrus	brain
12	chr12:62886000-62911200	Weak transcription	Brain Substantia Nigra	brain
13	chr12:62889200-62949600	Weak transcription	Small Intestine	intestine
14	chr12:62892800-62911200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:62894400-62926200	Weak transcription	NH-A	brain
16	chr12:62897000-62916400	Weak transcription	Fetal Heart	heart
17	chr12:62897600-62931000	Weak transcription	K562	blood
18	chr12:62897600-62944000	Weak transcription	Esophagus	oesophagus
19	chr12:62897800-62911200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:62898000-62923400	Weak transcription	NHDF-Ad	bronchial
21	chr12:62898600-62912800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:62902400-62911200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:62902400-62929200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:62902600-62912200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:62902600-62913200	Weak transcription	Ovary	ovary
26	chr12:62902600-62926600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:62902600-62927000	Weak transcription	Colonic Mucosa	Colon
28	chr12:62903600-62912400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:62903600-62917000	Weak transcription	HepG2	liver
30	chr12:62903600-62918800	Weak transcription	Osteobl	bone
31	chr12:62903600-62926200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:62903600-62926200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr12:62903600-62926200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:62903600-62949800	Weak transcription	NHEK	skin
35	chr12:62903800-62911200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:62903800-62924400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:62903800-62926200	Weak transcription	Hela-S3	cervix
38	chr12:62904200-62910800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:62904400-62912000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:62904400-62915800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:62904400-62926200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:62904600-62926200	Weak transcription	HMEC	breast
43	chr12:62904600-62927000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:62904600-62929200	Weak transcription	HUVEC	blood vessel
45	chr12:62904800-62912400	Weak transcription	Brain Anterior Caudate	brain
46	chr12:62904800-62914200	Weak transcription	Liver	Liver
47	chr12:62905000-62918400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr12:62905200-62915000	Weak transcription	HSMM	muscle
49	chr12:62905400-62926600	Weak transcription	HSMMtube	muscle
50	chr12:62906000-62913000	Strong transcription	Fetal Muscle Trunk	muscle

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