Variant report

Variant	rs17246504
Chromosome Location	chr14:66216056-66216057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10130526	0.80[ASN][1000 genomes]
rs10143920	0.80[ASN][1000 genomes]
rs11847101	0.85[ASN][1000 genomes]
rs11849249	0.85[ASN][1000 genomes]
rs11849792	0.81[ASN][1000 genomes]
rs12431694	1.00[AFR][1000 genomes]
rs12431772	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12432326	1.00[AFR][1000 genomes]
rs12432422	0.85[ASN][1000 genomes]
rs12433830	1.00[AFR][1000 genomes]
rs12433950	1.00[AFR][1000 genomes]
rs12434375	0.80[ASN][1000 genomes]
rs12434626	0.80[ASN][1000 genomes]
rs12435769	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12435809	0.84[ASN][1000 genomes]
rs12435971	0.85[ASN][1000 genomes]
rs12436402	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12436677	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12436771	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12436975	1.00[AFR][1000 genomes]
rs17102839	0.84[ASN][1000 genomes]
rs17102854	0.83[ASN][1000 genomes]
rs17102894	0.85[ASN][1000 genomes]
rs17102898	0.85[ASN][1000 genomes]
rs17102910	0.95[ASN][1000 genomes]
rs17246385	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs17246441	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17246532	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs17826892	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17826946	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17826952	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1952605	0.80[ASN][1000 genomes]
rs2073295	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2268965	0.83[ASN][1000 genomes]
rs2295360	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2300863	0.81[ASN][1000 genomes]
rs2300866	0.81[ASN][1000 genomes]
rs2300870	0.83[ASN][1000 genomes]
rs28496380	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2898701	0.85[ASN][1000 genomes]
rs58087042	0.80[ASN][1000 genomes]
rs59036531	0.85[ASN][1000 genomes]
rs61417186	0.80[ASN][1000 genomes]
rs61987778	0.85[ASN][1000 genomes]
rs61987810	0.98[ASN][1000 genomes]
rs6573636	1.00[AFR][1000 genomes]
rs74056820	0.98[ASN][1000 genomes]
rs74058525	0.80[ASN][1000 genomes]
rs74058541	0.80[ASN][1000 genomes]
rs74058560	0.83[ASN][1000 genomes]
rs74058562	0.83[ASN][1000 genomes]
rs8004564	0.81[ASN][1000 genomes]
rs8008391	1.00[AFR][1000 genomes]
rs956582	0.84[ASN][1000 genomes]
rs997794	0.85[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	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
2	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66190400-66217000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr14:66191800-66217800	Weak transcription	Small Intestine	intestine
3	chr14:66193000-66218800	Weak transcription	Colonic Mucosa	Colon
4	chr14:66201200-66216400	Weak transcription	Fetal Thymus	thymus
5	chr14:66201800-66219200	Weak transcription	Brain Anterior Caudate	brain
6	chr14:66209400-66217400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:66209400-66217600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:66209400-66219200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:66209600-66216600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:66209600-66217800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:66209600-66217800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr14:66209600-66219000	Weak transcription	Thymus	Thymus
13	chr14:66209600-66219200	Weak transcription	Stomach Mucosa	stomach
14	chr14:66210600-66217400	Weak transcription	GM12878-XiMat	blood
15	chr14:66210600-66217800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr14:66210800-66217400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:66211000-66218000	Weak transcription	Fetal Intestine Large	intestine
18	chr14:66211800-66217600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:66212400-66217800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:66212600-66217800	Weak transcription	HepG2	liver
21	chr14:66213400-66218000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:66213600-66217600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:66213600-66217800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr14:66215200-66217400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:66215600-66239800	Weak transcription	Primary T cells from cord blood	blood

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