Variant report

Variant	rs7494635
Chromosome Location	chr14:39750861-39750862
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10148141	0.83[ASN][1000 genomes]
rs17109068	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17693410	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2274397	0.82[ASN][1000 genomes]
rs28718785	0.82[ASN][1000 genomes]
rs4902542	0.82[ASN][1000 genomes]
rs61398943	0.82[ASN][1000 genomes]
rs61998537	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61998549	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61998551	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61998552	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61998554	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61998555	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62000665	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6571908	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6571909	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7141921	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs715135	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7159130	0.83[EUR][1000 genomes]
rs72675418	0.84[EUR][1000 genomes]
rs8016293	0.80[ASN][1000 genomes]
rs8017650	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8018486	0.82[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	chr14:39737000-39751800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:39737800-39763800	Weak transcription	Gastric	stomach
3	chr14:39738000-39752000	Weak transcription	Stomach Mucosa	stomach
4	chr14:39738000-39763800	Weak transcription	HSMM	muscle
5	chr14:39738200-39751800	Weak transcription	Colonic Mucosa	Colon
6	chr14:39738200-39751800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:39738200-39759200	Weak transcription	NH-A	brain
8	chr14:39738200-39763800	Weak transcription	Brain Angular Gyrus	brain
9	chr14:39738200-39763800	Weak transcription	HSMMtube	muscle
10	chr14:39738200-39766200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:39738600-39763800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:39738800-39764800	Weak transcription	NHDF-Ad	bronchial
14	chr14:39739000-39751800	Weak transcription	Brain Anterior Caudate	brain
15	chr14:39739200-39764000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:39739400-39758200	Weak transcription	NHEK	skin
17	chr14:39739800-39763400	Weak transcription	Lung	lung
18	chr14:39739800-39766400	Weak transcription	Aorta	Aorta
19	chr14:39740000-39751600	Weak transcription	Ovary	ovary
20	chr14:39740400-39751800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:39741200-39764200	Weak transcription	Spleen	Spleen
22	chr14:39742000-39751800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:39742000-39763400	Weak transcription	Esophagus	oesophagus
24	chr14:39742800-39755200	Weak transcription	Fetal Stomach	stomach
25	chr14:39743800-39755800	Weak transcription	Fetal Muscle Leg	muscle
26	chr14:39744600-39769800	Weak transcription	Pancreas	Pancrea
27	chr14:39745200-39752200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:39745400-39760600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr14:39745400-39764000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:39745600-39752200	Weak transcription	Colon Smooth Muscle	Colon
31	chr14:39745600-39764000	Weak transcription	HMEC	breast
32	chr14:39746000-39751600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:39746200-39753400	Strong transcription	HepG2	liver
34	chr14:39746200-39755400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr14:39746200-39758000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:39746200-39776600	Weak transcription	K562	blood
37	chr14:39746400-39752200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr14:39746400-39752600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:39746400-39752600	Strong transcription	Fetal Intestine Large	intestine
40	chr14:39746400-39771200	Weak transcription	Fetal Heart	heart
41	chr14:39747000-39753000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr14:39747000-39753800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:39747000-39755600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr14:39747200-39753000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr14:39747200-39753600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:39747200-39754400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:39747200-39755800	Weak transcription	Brain Germinal Matrix	brain
48	chr14:39747200-39763800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr14:39747400-39752800	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr14:39747400-39753600	Strong transcription	Liver	Liver

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