Variant report

Variant	rs8107294
Chromosome Location	chr19:41338183-41338184
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	chr19:41168873..41171001-chr19:41337568..41339858,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10406996	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11672809	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12327581	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2644890	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28450491	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28744583	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55971367	0.83[EUR][1000 genomes]
rs7248461	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv911729	chr19:41321372-41383828	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2760509	chr19:41325004-41394336	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1056244	chr19:41329218-41397661	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv1827726	chr19:41329872-41395056	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv1832156	chr19:41332004-41399077	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv817836	chr19:41333284-41363765	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1058732	chr19:41334726-41368987	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1058747	chr19:41334726-41376007	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv2763010	chr19:41334738-41380946	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv14395	chr19:41337301-41393256	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv9729	chr19:41337805-41394407	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv911730	chr19:41337923-41356054	Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv911731	chr19:41337923-41356751	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv911732	chr19:41337923-41372475	Strong transcription Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv911733	chr19:41337923-41383828	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv911734	chr19:41337923-41392885	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41324800-41339200	Weak transcription	Brain Germinal Matrix	brain
2	chr19:41326000-41339800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr19:41330000-41339800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:41330200-41349400	Weak transcription	Right Ventricle	heart
5	chr19:41331600-41339800	Weak transcription	Fetal Lung	lung
6	chr19:41333400-41338400	Weak transcription	Primary T cells from cord blood	blood
7	chr19:41333400-41339200	Weak transcription	Brain Angular Gyrus	brain
8	chr19:41333400-41339200	Weak transcription	Brain Substantia Nigra	brain
9	chr19:41333600-41339000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:41333600-41339200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr19:41333600-41339800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr19:41333600-41349400	Weak transcription	Left Ventricle	heart
13	chr19:41333800-41339200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr19:41334000-41338200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr19:41334000-41338600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr19:41334000-41339200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr19:41334000-41339200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:41334000-41339200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr19:41334000-41339200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr19:41334000-41339800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:41334200-41339000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr19:41334200-41339200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:41334200-41339200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr19:41336200-41339000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr19:41336400-41340200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:41336400-41340800	Enhancers	Fetal Intestine Large	intestine
27	chr19:41336600-41339400	Enhancers	Ovary	ovary
28	chr19:41336600-41340800	Enhancers	Fetal Intestine Small	intestine
29	chr19:41337000-41339600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:41337200-41338600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr19:41337200-41338600	Enhancers	A549	lung
32	chr19:41337200-41338600	Enhancers	HSMMtube	muscle
33	chr19:41337200-41338800	Enhancers	Hela-S3	cervix
34	chr19:41337200-41338800	Enhancers	HepG2	liver
35	chr19:41337200-41339000	Enhancers	NHDF-Ad	bronchial
36	chr19:41337200-41339600	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr19:41337200-41340000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:41337200-41340000	Enhancers	Adipose Nuclei	Adipose
39	chr19:41337200-41340000	Enhancers	Liver	Liver
40	chr19:41337200-41340000	Enhancers	Osteobl	bone
41	chr19:41337200-41340200	Enhancers	Placenta	Placenta
42	chr19:41337400-41338200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:41337400-41338200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:41337400-41338400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:41337400-41338400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:41337400-41338400	Enhancers	NHLF	lung
47	chr19:41337400-41338600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:41337400-41338600	Enhancers	Pancreas	Pancrea
49	chr19:41337400-41338600	Enhancers	Rectal Smooth Muscle	rectum
50	chr19:41337400-41338600	Enhancers	HMEC	breast

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