Variant report

Variant	rs1040810
Chromosome Location	chr14:39758196-39758197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10133417	0.86[ASN][1000 genomes]
rs10872920	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11157053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11157054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11157057	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11157059	0.83[ASN][1000 genomes]
rs11620695	0.85[ASN][1000 genomes]
rs11621330	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11624839	0.84[ASN][1000 genomes]
rs11626679	0.81[ASN][1000 genomes]
rs12432397	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12588386	0.85[ASN][1000 genomes]
rs12883781	0.81[ASN][1000 genomes]
rs12896838	0.86[ASN][1000 genomes]
rs12897272	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1570132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17109100	0.81[ASN][1000 genomes]
rs1950952	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2082635	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2274399	0.86[ASN][1000 genomes]
rs28619058	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4899227	0.80[EUR][1000 genomes]
rs4902470	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902528	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62000670	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6571915	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6571919	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8003117	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8004716	0.81[ASN][1000 genomes]
rs8009651	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8018717	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9322998	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs956108	0.86[ASN][1000 genomes]
rs956109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9671943	0.83[ASN][1000 genomes]
rs9671953	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	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	chr14:39737800-39763800	Weak transcription	Gastric	stomach
2	chr14:39738000-39763800	Weak transcription	HSMM	muscle
3	chr14:39738200-39759200	Weak transcription	NH-A	brain
4	chr14:39738200-39763800	Weak transcription	Brain Angular Gyrus	brain
5	chr14:39738200-39763800	Weak transcription	HSMMtube	muscle
6	chr14:39738200-39766200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:39738600-39763800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:39738800-39764800	Weak transcription	NHDF-Ad	bronchial
10	chr14:39739200-39764000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr14:39739400-39758200	Weak transcription	NHEK	skin
12	chr14:39739800-39763400	Weak transcription	Lung	lung
13	chr14:39739800-39766400	Weak transcription	Aorta	Aorta
14	chr14:39741200-39764200	Weak transcription	Spleen	Spleen
15	chr14:39742000-39763400	Weak transcription	Esophagus	oesophagus
16	chr14:39744600-39769800	Weak transcription	Pancreas	Pancrea
17	chr14:39745400-39760600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:39745400-39764000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:39745600-39764000	Weak transcription	HMEC	breast
20	chr14:39746200-39776600	Weak transcription	K562	blood
21	chr14:39746400-39771200	Weak transcription	Fetal Heart	heart
22	chr14:39747200-39763800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:39747800-39763600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:39749400-39760200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:39749400-39763400	Weak transcription	Left Ventricle	heart
26	chr14:39749400-39763800	Weak transcription	Small Intestine	intestine
27	chr14:39749400-39764000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:39749400-39764200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:39749400-39766400	Weak transcription	Right Ventricle	heart
30	chr14:39749400-39785400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr14:39749600-39763400	Weak transcription	Placenta	Placenta
32	chr14:39749600-39763800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr14:39749600-39763800	Weak transcription	Brain Substantia Nigra	brain
34	chr14:39749600-39765200	Weak transcription	HUVEC	blood vessel
35	chr14:39749600-39771200	Weak transcription	Fetal Kidney	kidney
36	chr14:39750800-39762400	Weak transcription	Hela-S3	cervix
37	chr14:39752200-39763800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:39752400-39763200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr14:39752400-39763600	Weak transcription	GM12878-XiMat	blood
40	chr14:39752400-39763800	Weak transcription	Brain Anterior Caudate	brain
41	chr14:39752600-39758400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr14:39752600-39758800	Weak transcription	Colonic Mucosa	Colon
43	chr14:39752600-39760600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:39752600-39762400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:39752600-39763800	Weak transcription	Fetal Lung	lung
46	chr14:39752600-39764200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr14:39752600-39764200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:39752600-39769000	Weak transcription	Colon Smooth Muscle	Colon
49	chr14:39752600-39808200	Weak transcription	Stomach Mucosa	stomach
50	chr14:39752800-39758400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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