Variant report

Variant	rs34705275
Chromosome Location	chr19:43933725-43933726
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:43928435..43931381-chr19:43932773..43935782,3	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10401696	0.89[ASN][1000 genomes]
rs10404797	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10404901	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405134	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405211	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10405380	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10405577	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10405634	0.95[ASN][1000 genomes]
rs10407046	0.89[ASN][1000 genomes]
rs10407131	0.89[ASN][1000 genomes]
rs10407680	0.87[ASN][1000 genomes]
rs10409143	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10418354	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10424330	0.88[ASN][1000 genomes]
rs11669789	0.88[ASN][1000 genomes]
rs11673673	0.88[ASN][1000 genomes]
rs12974736	0.81[EUR][1000 genomes]
rs12976706	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12976910	0.90[EUR][1000 genomes]
rs12976959	0.90[EUR][1000 genomes]
rs12977973	0.90[EUR][1000 genomes]
rs12978127	0.90[EUR][1000 genomes]
rs12978525	0.90[EUR][1000 genomes]
rs12978874	0.90[EUR][1000 genomes]
rs12979480	0.90[EUR][1000 genomes]
rs12980013	0.90[EUR][1000 genomes]
rs12980190	0.96[ASN][1000 genomes]
rs12980224	0.90[EUR][1000 genomes]
rs12982657	0.84[ASN][1000 genomes]
rs12983123	0.90[EUR][1000 genomes]
rs12984388	0.90[EUR][1000 genomes]
rs12984476	0.90[EUR][1000 genomes]
rs12984674	0.90[EUR][1000 genomes]
rs1533707	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1533708	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1533709	0.91[ASN][1000 genomes]
rs1829560	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1915339	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1915340	0.80[ASN][1000 genomes]
rs1915341	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1915342	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2278834	0.94[ASN][1000 genomes]
rs2355988	0.89[ASN][1000 genomes]
rs2355989	0.92[ASN][1000 genomes]
rs2355990	0.92[ASN][1000 genomes]
rs2355991	0.96[ASN][1000 genomes]
rs2599467	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2599468	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2599469	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682572	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682573	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2682574	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682589	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2682590	0.99[ASN][1000 genomes]
rs28564770	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34053693	0.89[ASN][1000 genomes]
rs34206735	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34228745	0.88[EUR][1000 genomes]
rs34446620	0.85[ASN][1000 genomes]
rs34860326	0.88[EUR][1000 genomes]
rs34865699	0.88[EUR][1000 genomes]
rs35093068	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35132532	0.81[EUR][1000 genomes]
rs35146204	0.88[EUR][1000 genomes]
rs35519460	0.90[EUR][1000 genomes]
rs35566664	0.81[EUR][1000 genomes]
rs35573924	0.88[EUR][1000 genomes]
rs35585729	0.86[EUR][1000 genomes]
rs35647486	0.90[EUR][1000 genomes]
rs35895695	0.81[EUR][1000 genomes]
rs36036314	0.89[ASN][1000 genomes]
rs36049523	0.88[EUR][1000 genomes]
rs3816438	0.94[ASN][1000 genomes]
rs3859443	0.90[EUR][1000 genomes]
rs3859444	0.90[EUR][1000 genomes]
rs4028111	0.85[EUR][1000 genomes]
rs4239523	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4239524	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4239525	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4340422	0.89[ASN][1000 genomes]
rs4464191	0.90[EUR][1000 genomes]
rs4491645	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803627	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803628	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803629	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58266855	0.85[EUR][1000 genomes]
rs59549769	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60765266	0.88[EUR][1000 genomes]
rs60813831	0.96[ASN][1000 genomes]
rs67299840	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71350679	0.90[EUR][1000 genomes]
rs71350682	0.84[EUR][1000 genomes]
rs7251581	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7251739	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8100617	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8100760	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8182567	0.89[ASN][1000 genomes]
rs8182585	0.89[ASN][1000 genomes]
rs9636125	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9636127	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9636128	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9636129	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9636130	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9636131	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9636132	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9749089	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv469666	chr19:43777147-43934334	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv482472	chr19:43777147-43934334	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	62 gene(s)	inside rSNPs	diseases
13	nsv1058162	chr19:43846238-44055058	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv1060280	chr19:43866823-43959685	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv1057949	chr19:43885058-43935170	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv520852	chr19:43885085-43960114	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv579850	chr19:43885085-43960114	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv1066231	chr19:43918840-43954915	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv579851	chr19:43920612-43955114	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv1061862	chr19:43925290-43954915	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv1058848	chr19:43925290-43957387	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Cotinine glucuronidation	25293881	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43919000-43937400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:43930000-43934400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr19:43930000-43934600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr19:43930000-43936800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr19:43930200-43937000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr19:43930400-43934400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:43930400-43934400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr19:43930400-43934400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:43930400-43943000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr19:43930600-43934400	Weak transcription	Fetal Intestine Large	intestine
11	chr19:43930600-43942000	Weak transcription	NHEK	skin
12	chr19:43930800-43942000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:43931000-43934400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr19:43931000-43936800	Weak transcription	Fetal Intestine Small	intestine
15	chr19:43931000-43936800	Weak transcription	Hela-S3	cervix
16	chr19:43931000-43942000	Weak transcription	Colonic Mucosa	Colon
17	chr19:43931000-43942600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr19:43931400-43934600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr19:43932000-43937200	Weak transcription	Stomach Mucosa	stomach
20	chr19:43932200-43934600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr19:43932600-43937000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr19:43933200-43934200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:43933400-43935200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr19:43933600-43933800	Enhancers	Small Intestine	intestine

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