Variant report

Variant	rs10913124
Chromosome Location	chr1:175993173-175993174
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10218714	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10436856	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10494495	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10753112	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10753117	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10753118	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10798422	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10798425	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10798434	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10798442	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10798444	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10913116	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10913117	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10913120	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10913128	0.84[EUR][1000 genomes]
rs10913131	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10913132	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10913133	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10913134	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10913135	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10913137	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11810706	0.92[ASN][1000 genomes]
rs12029090	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12033847	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12033976	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12040241	0.84[EUR][1000 genomes]
rs12404596	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12735810	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17351562	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17354120	0.81[EUR][1000 genomes]
rs34973462	0.92[ASN][1000 genomes]
rs4409605	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6678628	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6678812	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6688898	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6693299	0.81[AMR][1000 genomes]
rs6703511	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7514517	0.80[EUR][1000 genomes]
rs7515914	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7522843	0.82[AMR][1000 genomes]
rs7534058	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7534948	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7553759	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175946000-175996000	Weak transcription	HMEC	breast
2	chr1:175953800-175999600	Weak transcription	Colonic Mucosa	Colon
3	chr1:175957800-176022000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:175973600-176003400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:175974000-176003000	Weak transcription	NH-A	brain
6	chr1:175974600-176014200	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:175975400-176003400	Weak transcription	NHLF	lung
8	chr1:175975800-176016200	Weak transcription	HSMMtube	muscle
9	chr1:175976400-175996000	Weak transcription	HUVEC	blood vessel
10	chr1:175976400-176014400	Weak transcription	Brain Angular Gyrus	brain
11	chr1:175976600-176009400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:175976800-176046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:175978200-176001000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:175978200-176003600	Weak transcription	Small Intestine	intestine
15	chr1:175978200-176007400	Weak transcription	Brain Germinal Matrix	brain
16	chr1:175978200-176050600	Weak transcription	Aorta	Aorta
17	chr1:175978400-175996000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:175978400-175996600	Weak transcription	Left Ventricle	heart
19	chr1:175978400-176001600	Weak transcription	Fetal Lung	lung
20	chr1:175978400-176003000	Weak transcription	HSMM	muscle
21	chr1:175978400-176006800	Weak transcription	Fetal Brain Female	brain
22	chr1:175978400-176007000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:175978400-176007000	Weak transcription	Fetal Kidney	kidney
24	chr1:175978400-176014000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:175978400-176014800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:175978400-176017800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:175978600-176007000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:175978800-176003000	Weak transcription	A549	lung
30	chr1:175979200-176011800	Weak transcription	Brain Anterior Caudate	brain
31	chr1:175979400-175994800	Weak transcription	Placenta	Placenta
32	chr1:175979400-176009200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:175979400-176012200	Weak transcription	HepG2	liver
34	chr1:175979600-176001000	Weak transcription	NHEK	skin
35	chr1:175979600-176010600	Weak transcription	Right Ventricle	heart
36	chr1:175979600-176012000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:175979600-176045400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:175979800-176014400	Weak transcription	Brain Substantia Nigra	brain
39	chr1:175980000-176001000	Weak transcription	NHDF-Ad	bronchial
40	chr1:175980200-176028000	Weak transcription	K562	blood
41	chr1:175980400-175995600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr1:175981400-176009200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:175981600-175999000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:175981600-176001600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:175982000-175994200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:175982000-176009800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:175982200-175996000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:175982200-176003200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:175982200-176009400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:175982200-176009400	Weak transcription	Stomach Smooth Muscle	stomach

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