Variant report

Variant	rs2481662
Chromosome Location	chr1:176102974-176102975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10798445	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12138008	0.81[EUR][1000 genomes]
rs12729524	0.81[EUR][1000 genomes]
rs12758275	0.80[EUR][1000 genomes]
rs1974142	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2039230	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2457418	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2481628	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2481630	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2481631	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2481633	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2481646	0.83[EUR][1000 genomes]
rs2481655	0.82[EUR][1000 genomes]
rs2487144	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2502823	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2502829	0.82[EUR][1000 genomes]
rs2502831	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2502845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501142	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs513354	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs520661	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs542742	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs596859	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs617078	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs659279	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6665385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs668154	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6697860	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs670143	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs679728	0.81[EUR][1000 genomes]
rs704829	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs704834	0.80[EUR][1000 genomes]
rs7549160	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs791743	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs791746	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs791747	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs791750	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs791751	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs791752	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs791753	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs813180	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9425447	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs944365	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
2	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv548246	chr1:176043797-176136273	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv872565	chr1:176058782-176172795	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3431861	chr1:176100979-176103402	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2576730	chr1:176101571-176103178	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3328040	chr1:176102812-176103105	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176048800-176107000	Weak transcription	HepG2	liver
2	chr1:176054400-176131600	Weak transcription	NH-A	brain
3	chr1:176055000-176141600	Weak transcription	Hela-S3	cervix
4	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
5	chr1:176069000-176116400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:176069000-176139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:176069200-176123200	Weak transcription	Osteobl	bone
8	chr1:176069200-176126600	Weak transcription	HMEC	breast
9	chr1:176069200-176138800	Weak transcription	HUVEC	blood vessel
10	chr1:176069400-176121200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:176070400-176107400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:176070400-176126400	Weak transcription	Brain Anterior Caudate	brain
13	chr1:176070400-176151400	Weak transcription	Pancreas	Pancrea
14	chr1:176070800-176110600	Weak transcription	Small Intestine	intestine
15	chr1:176071600-176117800	Weak transcription	Gastric	stomach
16	chr1:176072000-176140600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:176072400-176108600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:176072600-176107400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:176072800-176114600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:176072800-176114800	Weak transcription	NHDF-Ad	bronchial
21	chr1:176072800-176126600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:176076200-176126000	Weak transcription	Ovary	ovary
23	chr1:176076200-176127800	Weak transcription	Esophagus	oesophagus
24	chr1:176079800-176105400	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:176080000-176103400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:176081200-176114800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:176083000-176126000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:176083800-176106200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:176085400-176142400	Weak transcription	Lung	lung
30	chr1:176085600-176116400	Weak transcription	Adipose Nuclei	Adipose
31	chr1:176085600-176122200	Weak transcription	Left Ventricle	heart
32	chr1:176085600-176122600	Weak transcription	Thymus	Thymus
33	chr1:176085600-176126000	Weak transcription	Fetal Stomach	stomach
34	chr1:176085600-176128600	Weak transcription	Placenta	Placenta
35	chr1:176086000-176113000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:176086000-176114800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:176087400-176122800	Weak transcription	NHEK	skin
38	chr1:176088600-176122800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:176089200-176111400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:176090800-176126600	Weak transcription	Fetal Brain Male	brain
41	chr1:176091600-176117000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:176092000-176104000	Weak transcription	Psoas Muscle	Psoas
43	chr1:176092200-176110600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:176092600-176110400	Weak transcription	Fetal Intestine Large	intestine
45	chr1:176092800-176114800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:176093200-176119200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:176093200-176121200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:176094000-176107000	Weak transcription	Stomach Mucosa	stomach
49	chr1:176094400-176106800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr1:176094800-176126200	Weak transcription	Fetal Brain Female	brain

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