Variant report

Variant	rs55793205
Chromosome Location	chr14:66017517-66017518
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	chr14:66013723..66015373-chr14:66016823..66019100,2	K562	blood:
2	chr14:66013895..66016507-chr14:66016557..66019347,2	MCF-7	breast:

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10083328	1.00[ASN][1000 genomes]
rs10131727	0.92[EUR][1000 genomes]
rs10135541	1.00[ASN][1000 genomes]
rs10138701	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149311	0.90[EUR][1000 genomes]
rs10151521	1.00[ASN][1000 genomes]
rs10483783	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11844089	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844728	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845391	1.00[ASN][1000 genomes]
rs11846196	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846827	1.00[ASN][1000 genomes]
rs11846860	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848647	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11849408	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11851934	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852179	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436381	0.92[EUR][1000 genomes]
rs17102714	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102760	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102783	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102807	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102845	1.00[ASN][1000 genomes]
rs17779210	1.00[ASN][1000 genomes]
rs2153482	1.00[ASN][1000 genomes]
rs28402125	1.00[ASN][1000 genomes]
rs28583930	1.00[ASN][1000 genomes]
rs28666667	1.00[ASN][1000 genomes]
rs4343192	1.00[ASN][1000 genomes]
rs55648350	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55714222	1.00[ASN][1000 genomes]
rs55780087	1.00[ASN][1000 genomes]
rs55853120	1.00[ASN][1000 genomes]
rs55917158	1.00[ASN][1000 genomes]
rs55948453	1.00[ASN][1000 genomes]
rs56024518	1.00[ASN][1000 genomes]
rs56158541	1.00[ASN][1000 genomes]
rs56191137	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56192128	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56311314	1.00[ASN][1000 genomes]
rs56348725	1.00[ASN][1000 genomes]
rs56682283	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987767	1.00[ASN][1000 genomes]
rs61987768	1.00[ASN][1000 genomes]
rs61987770	1.00[ASN][1000 genomes]
rs61987773	1.00[ASN][1000 genomes]
rs61987775	1.00[ASN][1000 genomes]
rs61987776	1.00[ASN][1000 genomes]
rs61987779	1.00[ASN][1000 genomes]
rs61987781	1.00[ASN][1000 genomes]
rs61987809	1.00[ASN][1000 genomes]
rs61987811	1.00[ASN][1000 genomes]
rs61987812	1.00[ASN][1000 genomes]
rs61987814	1.00[ASN][1000 genomes]
rs61987815	1.00[ASN][1000 genomes]
rs61987981	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987982	1.00[ASN][1000 genomes]
rs61987985	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987987	1.00[ASN][1000 genomes]
rs61987988	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987989	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987991	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987995	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987996	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988015	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988016	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988017	1.00[ASN][1000 genomes]
rs61988019	1.00[ASN][1000 genomes]
rs61988020	1.00[ASN][1000 genomes]
rs61988021	1.00[ASN][1000 genomes]
rs61988022	1.00[ASN][1000 genomes]
rs61989057	1.00[ASN][1000 genomes]
rs61989059	1.00[ASN][1000 genomes]
rs61989961	1.00[ASN][1000 genomes]
rs61989962	1.00[ASN][1000 genomes]
rs61989963	1.00[ASN][1000 genomes]
rs61989964	1.00[ASN][1000 genomes]
rs61989969	1.00[ASN][1000 genomes]
rs61989970	1.00[ASN][1000 genomes]
rs61989971	1.00[ASN][1000 genomes]
rs61989973	1.00[ASN][1000 genomes]
rs61989974	1.00[ASN][1000 genomes]
rs61989975	1.00[ASN][1000 genomes]
rs61989977	1.00[ASN][1000 genomes]
rs61989993	1.00[ASN][1000 genomes]
rs61989998	1.00[ASN][1000 genomes]
rs61990000	1.00[ASN][1000 genomes]
rs61990002	0.84[EUR][1000 genomes]
rs61990023	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990026	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990027	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573606	1.00[ASN][1000 genomes]
rs6573620	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143112	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143525	1.00[ASN][1000 genomes]
rs7144234	1.00[ASN][1000 genomes]
rs7148883	1.00[ASN][1000 genomes]
rs7150782	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153718	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154526	1.00[ASN][1000 genomes]
rs7154876	1.00[ASN][1000 genomes]
rs7155055	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156029	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159582	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73268558	1.00[ASN][1000 genomes]
rs7342545	1.00[ASN][1000 genomes]
rs747540	1.00[ASN][1000 genomes]
rs8003093	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004852	1.00[ASN][1000 genomes]
rs8005892	1.00[ASN][1000 genomes]
rs8008705	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013098	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013585	1.00[ASN][1000 genomes]
rs8018695	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019214	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs927005	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv456327	chr14:65955517-66052901	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv564951	chr14:65955517-66052901	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv832819	chr14:65957949-66106019	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	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
10	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65985000-66025200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr14:65995200-66028000	Weak transcription	Dnd41	blood
3	chr14:65995400-66061000	Weak transcription	Gastric	stomach
4	chr14:66002400-66028000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr14:66003000-66028000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr14:66003400-66028200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:66003800-66017800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr14:66003800-66041200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:66004000-66018000	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:66005400-66028400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:66007600-66017600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr14:66008600-66025800	Weak transcription	Primary T cells from cord blood	blood
13	chr14:66008600-66028000	Weak transcription	Primary B cells from cord blood	blood
14	chr14:66013200-66028200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:66014800-66022000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr14:66015200-66033600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:66015800-66017800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr14:66015800-66021400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:66016000-66032800	Weak transcription	Small Intestine	intestine
20	chr14:66016000-66041400	Weak transcription	Ovary	ovary
21	chr14:66016600-66028000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:66016600-66033800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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