Variant report

Variant	rs11881791
Chromosome Location	chr19:39984021-39984022
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39925083..39926660-chr19:39982191..39985073,2	K562	blood:
2	chr19:39950586..39952165-chr19:39983591..39985551,2	K562	blood:
3	chr19:39982701..39986911-chr19:39987055..39990908,4	MCF-7	breast:
4	chr19:39975925..39978735-chr19:39983543..39985534,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TIMM50-1	chr19:39982152-39984422	NONHSAT066304
2	lnc-TIMM50-1	chr19:39983935-39984355	NONHSAT066305

No data

Variant related genes	Relation type
ENSG00000105193	Chromatin interaction
ENSG00000105197	Chromatin interaction
ENSG00000090932	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10409266	1.00[AMR][1000 genomes]
rs10410433	1.00[AMR][1000 genomes]
rs10415824	1.00[AMR][1000 genomes]
rs10416483	1.00[AMR][1000 genomes]
rs10416833	1.00[AMR][1000 genomes]
rs10418621	1.00[AMR][1000 genomes]
rs11878949	1.00[AMR][1000 genomes]
rs11881743	1.00[AMR][1000 genomes]
rs11882363	1.00[AMR][1000 genomes]
rs13345090	1.00[AMR][1000 genomes]
rs28673032	1.00[AMR][1000 genomes]
rs35805511	1.00[AMR][1000 genomes]
rs35904695	1.00[AMR][1000 genomes]
rs55715307	1.00[AMR][1000 genomes]
rs55977867	0.83[AFR][1000 genomes]
rs56110409	1.00[AMR][1000 genomes]
rs57795340	1.00[AMR][1000 genomes]
rs59673015	1.00[AMR][1000 genomes]
rs59763849	0.87[AFR][1000 genomes]
rs60760924	1.00[AMR][1000 genomes]
rs61201100	1.00[AMR][1000 genomes]
rs73930737	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930738	1.00[AMR][1000 genomes]
rs73930740	1.00[AMR][1000 genomes]
rs73930742	1.00[AMR][1000 genomes]
rs73930743	1.00[AMR][1000 genomes]
rs73930744	1.00[AMR][1000 genomes]
rs73930746	1.00[AMR][1000 genomes]
rs73930752	1.00[AMR][1000 genomes]
rs73930764	1.00[AMR][1000 genomes]
rs73930765	1.00[AMR][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	nsv911689	chr19:39903088-40021759	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv523856	chr19:39913558-39997472	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv911691	chr19:39979966-40029386	Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv911692	chr19:39979966-40046863	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39972200-39986400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:39972800-39984200	Weak transcription	Stomach Mucosa	stomach
3	chr19:39972800-39988600	Weak transcription	Right Atrium	heart
4	chr19:39973600-39988400	Weak transcription	Fetal Brain Male	brain
5	chr19:39980000-39984400	Weak transcription	NHDF-Ad	bronchial
6	chr19:39980000-39988600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr19:39980600-39988600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:39980800-39986600	Weak transcription	NHLF	lung
9	chr19:39980800-39988200	Weak transcription	HUVEC	blood vessel
10	chr19:39980800-39988400	Weak transcription	K562	blood
11	chr19:39981000-39985000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:39981000-39985200	Weak transcription	Brain Substantia Nigra	brain
13	chr19:39981000-39985400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr19:39981000-39985600	Weak transcription	Esophagus	oesophagus
15	chr19:39981000-39986200	Weak transcription	HepG2	liver
16	chr19:39981000-39986600	Weak transcription	NH-A	brain
17	chr19:39981000-39988200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:39981000-39988400	Weak transcription	Aorta	Aorta
19	chr19:39981000-39988400	Weak transcription	GM12878-XiMat	blood
20	chr19:39981000-39988400	Weak transcription	HSMMtube	muscle
21	chr19:39981000-39988600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:39981000-39988600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr19:39981000-39988600	Weak transcription	Gastric	stomach
24	chr19:39981000-39988800	Weak transcription	Pancreas	Pancrea
25	chr19:39981200-39984200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr19:39981200-39985000	Weak transcription	Right Ventricle	heart
27	chr19:39981200-39985200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr19:39981200-39985200	Weak transcription	Brain Hippocampus Middle	brain
29	chr19:39981200-39985600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:39981200-39985800	Weak transcription	Lung	lung
31	chr19:39981200-39986000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr19:39981200-39988400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr19:39981400-39984600	Weak transcription	Colon Smooth Muscle	Colon
34	chr19:39981400-39984600	Weak transcription	Small Intestine	intestine
35	chr19:39981400-39985200	Weak transcription	Brain Angular Gyrus	brain
36	chr19:39981400-39985200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr19:39981400-39985400	Weak transcription	Fetal Lung	lung
38	chr19:39981400-39985600	Weak transcription	Fetal Intestine Large	intestine
39	chr19:39981400-39986000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr19:39981400-39986000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr19:39981400-39986200	Weak transcription	Dnd41	blood
42	chr19:39981400-39986600	Weak transcription	Fetal Thymus	thymus
43	chr19:39981400-39988200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr19:39981400-39988400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:39981400-39988600	Weak transcription	Primary B cells from cord blood	blood
46	chr19:39981400-39988600	Weak transcription	HSMM	muscle
47	chr19:39981600-39986800	Weak transcription	Osteobl	bone
48	chr19:39981600-39988400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:39981800-39985200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr19:39981800-39985800	Weak transcription	Placenta	Placenta

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