Variant report

Variant	rs12735810
Chromosome Location	chr1:176010719-176010720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10218714	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10436856	0.82[AMR][1000 genomes]
rs10494495	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10494498	0.83[EUR][1000 genomes]
rs10753112	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10753117	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10753118	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10798422	0.82[AMR][1000 genomes]
rs10798425	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10798434	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10798442	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10798444	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10798446	0.86[EUR][1000 genomes]
rs10798447	0.83[EUR][1000 genomes]
rs10913116	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10913117	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10913120	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10913124	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913131	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913132	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10913133	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10913134	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10913135	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10913137	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10913142	0.87[EUR][1000 genomes]
rs10913143	0.86[EUR][1000 genomes]
rs10913144	0.87[EUR][1000 genomes]
rs10913145	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10913147	0.85[EUR][1000 genomes]
rs10913148	0.85[EUR][1000 genomes]
rs11810706	0.90[ASN][1000 genomes]
rs12029090	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12033847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12033976	0.82[AMR][1000 genomes]
rs12033997	0.86[EUR][1000 genomes]
rs12034255	0.87[EUR][1000 genomes]
rs12049077	0.85[EUR][1000 genomes]
rs12404596	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17351562	0.82[AMR][1000 genomes]
rs17354120	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2175177	0.82[EUR][1000 genomes]
rs2861672	0.87[EUR][1000 genomes]
rs34511428	0.86[EUR][1000 genomes]
rs34973462	0.90[ASN][1000 genomes]
rs4409605	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6678628	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6678812	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6684140	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6688898	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6703511	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7514517	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7515914	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7517503	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7522843	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7534058	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7534948	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7553759	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv1835152	chr1:175996260-176012807	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175957800-176022000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:175974600-176014200	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:175975800-176016200	Weak transcription	HSMMtube	muscle
4	chr1:175976400-176014400	Weak transcription	Brain Angular Gyrus	brain
5	chr1:175976800-176046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:175978200-176050600	Weak transcription	Aorta	Aorta
7	chr1:175978400-176014000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:175978400-176014800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:175978400-176017800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:175979200-176011800	Weak transcription	Brain Anterior Caudate	brain
12	chr1:175979400-176012200	Weak transcription	HepG2	liver
13	chr1:175979600-176012000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:175979600-176045400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:175979800-176014400	Weak transcription	Brain Substantia Nigra	brain
16	chr1:175980200-176028000	Weak transcription	K562	blood
17	chr1:175982200-176012200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:175989800-176036400	Weak transcription	Pancreas	Pancrea
19	chr1:175994200-176065200	Weak transcription	Psoas Muscle	Psoas
20	chr1:175999000-176017000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr1:176000600-176014800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:176001800-176016200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:176002400-176012400	Weak transcription	Colonic Mucosa	Colon
24	chr1:176003600-176014600	Weak transcription	NH-A	brain
25	chr1:176003600-176016200	Weak transcription	HMEC	breast
26	chr1:176003800-176021400	Weak transcription	Osteobl	bone
27	chr1:176004000-176014000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:176004000-176014200	Weak transcription	HUVEC	blood vessel
29	chr1:176004000-176018200	Weak transcription	Hela-S3	cervix
30	chr1:176004000-176021200	Weak transcription	A549	lung
31	chr1:176004000-176026400	Weak transcription	Small Intestine	intestine
32	chr1:176004000-176036400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:176004200-176012000	Weak transcription	NHLF	lung
34	chr1:176004200-176016000	Weak transcription	NHEK	skin
35	chr1:176004200-176039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:176005400-176015400	Strong transcription	Dnd41	blood
37	chr1:176005600-176013400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:176005600-176015400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:176005600-176015400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:176005800-176010800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:176005800-176011000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:176006000-176013000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:176006000-176045200	Weak transcription	GM12878-XiMat	blood
44	chr1:176006200-176049000	Weak transcription	HSMM	muscle
45	chr1:176006400-176012000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:176006400-176013600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:176006600-176012800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:176006800-176012800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:176006800-176012800	Strong transcription	Adipose Nuclei	Adipose
50	chr1:176006800-176014400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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