Variant report

Variant	rs12723724
Chromosome Location	chr1:175938476-175938477
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10494495	0.91[JPT][hapmap]
rs10753117	0.86[JPT][hapmap]
rs10798425	0.90[JPT][hapmap]
rs10798434	0.91[JPT][hapmap]
rs10798442	0.87[JPT][hapmap]
rs10798445	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs10798446	0.83[JPT][hapmap]
rs10913117	0.90[JPT][hapmap]
rs10913118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10913135	0.82[JPT][hapmap]
rs10913137	0.83[JPT][hapmap]
rs10913143	0.83[JPT][hapmap]
rs10913144	0.83[JPT][hapmap]
rs11810706	0.95[CEU][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes]
rs12029090	0.85[JPT][hapmap]
rs12033847	0.86[JPT][hapmap]
rs12135395	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12138008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12404596	0.86[JPT][hapmap]
rs12729524	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12741940	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12756741	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16849486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17354120	0.82[JPT][hapmap]
rs2481628	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs2481630	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs2481631	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs2481633	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs2481646	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2481655	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2502823	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2502829	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2502831	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs2502845	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs34973462	0.90[EUR][1000 genomes]
rs3934392	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4409605	0.91[JPT][hapmap]
rs520661	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs617078	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs6660080	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665385	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap]
rs6678628	0.83[JPT][hapmap]
rs6678812	0.82[JPT][hapmap]
rs6682194	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6697860	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs7517503	0.82[JPT][hapmap]
rs7530719	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7549160	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs791751	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs791753	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap]
rs9425447	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175874400-175945600	Weak transcription	A549	lung
2	chr1:175892400-175940600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:175893200-175943000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:175897000-175953000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:175897600-175953200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:175897800-175952400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:175898600-175953200	Weak transcription	Pancreas	Pancrea
8	chr1:175899200-175953200	Weak transcription	Esophagus	oesophagus
9	chr1:175901600-175940600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:175903400-175951400	Weak transcription	K562	blood
11	chr1:175903600-175940800	Weak transcription	HMEC	breast
12	chr1:175904200-175956200	Weak transcription	Psoas Muscle	Psoas
13	chr1:175904600-175953000	Weak transcription	Right Ventricle	heart
14	chr1:175905000-175946800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:175906400-175940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:175906400-175944800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:175906400-175952400	Weak transcription	Spleen	Spleen
18	chr1:175906400-175962600	Weak transcription	NH-A	brain
19	chr1:175906800-175952000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:175907400-175950600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:175907800-175940600	Weak transcription	Colonic Mucosa	Colon
22	chr1:175907800-175945400	Weak transcription	Small Intestine	intestine
23	chr1:175907800-175945600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:175908000-175959400	Weak transcription	NHEK	skin
25	chr1:175908200-175939400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:175909400-175948000	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:175909600-175942800	Weak transcription	Fetal Brain Female	brain
28	chr1:175911200-175947600	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:175911200-175950400	Weak transcription	Fetal Heart	heart
30	chr1:175916000-175940600	Weak transcription	Hela-S3	cervix
31	chr1:175916200-175939800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:175916400-175939200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:175916400-175939200	Weak transcription	HSMM	muscle
34	chr1:175916400-175940600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:175916400-175952200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr1:175917600-175940000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:175917600-175953000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr1:175919000-175947800	Weak transcription	Brain Germinal Matrix	brain
39	chr1:175921400-175951200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:175922000-175940600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:175922000-175952000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:175922800-175940600	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:175924600-175953200	Weak transcription	Gastric	stomach
44	chr1:175924600-175953200	Weak transcription	HepG2	liver
45	chr1:175924800-175947600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:175925000-175951800	Weak transcription	Brain Anterior Caudate	brain
47	chr1:175927000-175951200	Weak transcription	Fetal Brain Male	brain
48	chr1:175929800-175939200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:175930200-175940600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr1:175930200-175947600	Weak transcription	Brain Inferior Temporal Lobe	brain

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