Variant report

Variant	rs34760209
Chromosome Location	chr19:42923786-42923787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:42923660-42923810	GM12868	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42682574..42684413-chr19:42921728..42924640,2	K562	blood:
2	chr19:42921780..42924507-chr19:42929179..42932042,4	K562	blood:
3	chr19:42921780..42924678-chr19:42930501..42932558,2	K562	blood:
4	chr19:42787574..42789864-chr19:42923760..42926145,2	MCF-7	breast:
5	chr19:42747404..42749057-chr19:42923034..42925507,2	K562	blood:
6	chr19:42923683..42924698-chr19:42937367..42938479,4	MCF-7	breast:
7	chr19:42903448..42905839-chr19:42923535..42926055,2	MCF-7	breast:

No data

Variant related genes	Relation type
LIPE-AS1	TF binding region
ENSG00000213904	Chromatin interaction
ENSG00000268605	Chromatin interaction
ENSG00000079435	Chromatin interaction
ENSG00000079432	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10518265	1.00[EUR][1000 genomes]
rs16975748	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975813	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975816	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975848	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975958	1.00[EUR][1000 genomes]
rs1903724	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34044249	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34097578	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34147019	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34366776	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34381435	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34637823	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34734442	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34923099	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35002034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35038065	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35135831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35213872	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35266309	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35312827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35349390	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35409716	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35544765	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35855384	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35917849	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35969273	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3745238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4635443	1.00[EUR][1000 genomes]
rs55697425	1.00[EUR][1000 genomes]
rs56271304	1.00[EUR][1000 genomes]
rs56312460	1.00[EUR][1000 genomes]
rs57516100	1.00[EUR][1000 genomes]
rs58405647	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58845793	1.00[EUR][1000 genomes]
rs59983776	1.00[EUR][1000 genomes]
rs60389892	1.00[EUR][1000 genomes]
rs60993923	1.00[EUR][1000 genomes]
rs61661961	1.00[EUR][1000 genomes]
rs7253354	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932713	1.00[EUR][1000 genomes]
rs73932727	1.00[EUR][1000 genomes]
rs73932730	1.00[EUR][1000 genomes]
rs73932732	1.00[EUR][1000 genomes]
rs73932734	1.00[EUR][1000 genomes]
rs73932736	1.00[EUR][1000 genomes]
rs73932737	1.00[EUR][1000 genomes]
rs73932738	1.00[EUR][1000 genomes]
rs73932739	1.00[EUR][1000 genomes]
rs73932741	1.00[EUR][1000 genomes]
rs73932742	1.00[EUR][1000 genomes]
rs73932744	1.00[EUR][1000 genomes]
rs73932746	1.00[EUR][1000 genomes]
rs73932747	1.00[EUR][1000 genomes]
rs73932748	1.00[EUR][1000 genomes]
rs73932750	1.00[EUR][1000 genomes]
rs73932751	1.00[EUR][1000 genomes]
rs73932752	1.00[EUR][1000 genomes]
rs73932754	1.00[EUR][1000 genomes]
rs73932761	1.00[EUR][1000 genomes]
rs73932762	1.00[EUR][1000 genomes]
rs73936020	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936024	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936031	1.00[EUR][1000 genomes]
rs73936032	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8105476	1.00[EUR][1000 genomes]
rs8109269	1.00[EUR][1000 genomes]
rs8110316	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv911788	chr19:42887492-42930652	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv911792	chr19:42901430-42929254	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv911793	chr19:42901430-42929502	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv911794	chr19:42901430-42930652	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv911795	chr19:42901430-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv911798	chr19:42904653-42930652	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv911799	chr19:42905645-42930652	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv911800	chr19:42906914-42930652	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv911801	chr19:42910416-42929502	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv911802	chr19:42915110-42929254	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv911803	chr19:42916841-42926406	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	nsv911804	chr19:42916841-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv911805	chr19:42919405-42927065	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	nsv911806	chr19:42919405-42928397	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv911807	chr19:42920555-42929254	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42906200-42926200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:42906400-42924400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr19:42906400-42926400	Weak transcription	Colonic Mucosa	Colon
4	chr19:42906600-42926400	Weak transcription	Fetal Lung	lung
5	chr19:42906800-42924000	Weak transcription	A549	lung
6	chr19:42906800-42924400	Weak transcription	Osteobl	bone
7	chr19:42906800-42925200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr19:42907000-42924200	Strong transcription	Fetal Stomach	stomach
9	chr19:42907000-42924400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:42907400-42926600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:42909000-42925800	Weak transcription	Dnd41	blood
12	chr19:42910400-42924200	Weak transcription	GM12878-XiMat	blood
13	chr19:42911000-42924000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:42911000-42924400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr19:42911200-42923800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:42912200-42925000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr19:42912600-42924000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:42912600-42924200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr19:42912600-42925600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:42912800-42926200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:42913800-42925800	Weak transcription	NHDF-Ad	bronchial
22	chr19:42914000-42924200	Weak transcription	Pancreas	Pancrea
23	chr19:42914000-42924400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:42914000-42926400	Weak transcription	Ovary	ovary
25	chr19:42914200-42924400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr19:42914400-42926000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr19:42915000-42925600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:42915200-42924400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr19:42915200-42925400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr19:42915200-42925800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:42915400-42924000	Weak transcription	Brain Germinal Matrix	brain
32	chr19:42915400-42924200	Weak transcription	NHLF	lung
33	chr19:42917000-42924000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:42917000-42926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:42917200-42924200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:42917200-42924400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr19:42917400-42924200	Weak transcription	Brain Angular Gyrus	brain
38	chr19:42917400-42926600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:42918800-42924000	Weak transcription	Brain Substantia Nigra	brain
40	chr19:42918800-42924400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr19:42919000-42923800	Weak transcription	Primary B cells from cord blood	blood
42	chr19:42919000-42925800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr19:42919200-42924200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr19:42919200-42924400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:42919400-42925000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr19:42920800-42924000	Weak transcription	Primary T cells from cord blood	blood
47	chr19:42920800-42925000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr19:42921000-42924800	Weak transcription	Fetal Brain Female	brain
49	chr19:42921200-42924600	Weak transcription	Thymus	Thymus
50	chr19:42921400-42924400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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