Variant report

Variant	rs3993
Chromosome Location	chr14:32322002-32322003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32316314..32318915-chr14:32319714..32322323,3	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10132352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133717	1.00[ASN][1000 genomes]
rs10133942	1.00[ASN][1000 genomes]
rs10151379	0.97[AFR][1000 genomes]
rs11156708	1.00[ASN][1000 genomes]
rs11156720	1.00[ASN][1000 genomes]
rs11621039	1.00[ASN][1000 genomes]
rs11621248	1.00[ASN][1000 genomes]
rs11621390	1.00[ASN][1000 genomes]
rs11621521	1.00[ASN][1000 genomes]
rs11621686	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622367	1.00[ASN][1000 genomes]
rs11622373	1.00[ASN][1000 genomes]
rs11624141	1.00[ASN][1000 genomes]
rs11624768	1.00[ASN][1000 genomes]
rs11624788	1.00[ASN][1000 genomes]
rs11626536	1.00[ASN][1000 genomes]
rs11627538	1.00[ASN][1000 genomes]
rs11628274	1.00[ASN][1000 genomes]
rs11848123	1.00[ASN][1000 genomes]
rs11848353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848392	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185052	1.00[ASN][1000 genomes]
rs17098210	0.94[AFR][1000 genomes]
rs17098218	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17098247	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17098251	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17379796	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17379852	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17379887	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17381661	1.00[ASN][1000 genomes]
rs17464234	0.87[EUR][1000 genomes]
rs17464629	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17464712	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17464726	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1953269	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1953274	1.00[ASN][1000 genomes]
rs28494034	1.00[ASN][1000 genomes]
rs34753663	1.00[ASN][1000 genomes]
rs4525402	1.00[ASN][1000 genomes]
rs4525403	1.00[ASN][1000 genomes]
rs55764900	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55835620	1.00[ASN][1000 genomes]
rs58503445	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58675313	1.00[ASN][1000 genomes]
rs59776229	1.00[ASN][1000 genomes]
rs6571471	0.86[AFR][1000 genomes]
rs6571472	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6571473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7144910	0.96[AFR][1000 genomes]
rs7145251	0.97[AFR][1000 genomes]
rs7146383	0.96[AFR][1000 genomes]
rs7147907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148175	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148196	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148222	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148561	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149861	0.97[AFR][1000 genomes]
rs7153389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253276	1.00[ASN][1000 genomes]
rs73255125	1.00[ASN][1000 genomes]
rs73255184	1.00[ASN][1000 genomes]
rs73255188	1.00[ASN][1000 genomes]
rs73259069	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74041532	1.00[ASN][1000 genomes]
rs74041533	1.00[ASN][1000 genomes]
rs8004536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005084	0.97[AFR][1000 genomes]
rs8005547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008468	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8009002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8009753	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016264	1.00[ASN][1000 genomes]
rs8016527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020792	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970488	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv901593	chr14:32282564-32350371	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv526200	chr14:32308511-32454372	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32250600-32322400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr14:32281800-32330200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr14:32294200-32328800	Weak transcription	Ovary	ovary
4	chr14:32294800-32328000	Weak transcription	Left Ventricle	heart
5	chr14:32295000-32332800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:32297400-32325800	Weak transcription	Primary B cells from cord blood	blood
7	chr14:32299000-32325800	Weak transcription	Fetal Stomach	stomach
8	chr14:32309200-32330000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:32311600-32328000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:32313000-32323800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:32313000-32327200	Weak transcription	Fetal Intestine Large	intestine
12	chr14:32313000-32334400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:32313200-32327600	Weak transcription	Stomach Mucosa	stomach
14	chr14:32313800-32323800	Weak transcription	Aorta	Aorta
15	chr14:32313800-32326800	Weak transcription	Pancreas	Pancrea
16	chr14:32313800-32328200	Weak transcription	Gastric	stomach
17	chr14:32314400-32330600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:32318400-32324000	Weak transcription	Adipose Nuclei	Adipose
19	chr14:32318600-32327200	Weak transcription	Spleen	Spleen
20	chr14:32319600-32327800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:32319800-32327600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:32320800-32322200	Weak transcription	HepG2	liver
23	chr14:32321200-32328000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:32322000-32322800	Strong transcription	Primary T cells from cord blood	blood

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