Variant report

Variant	rs41363350
Chromosome Location	chr19:43030819-43030820
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10402559	1.00[EUR][1000 genomes]
rs10407596	1.00[EUR][1000 genomes]
rs10425757	1.00[EUR][1000 genomes]
rs11878991	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11879456	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11883406	1.00[EUR][1000 genomes]
rs11883425	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1975178	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28514529	1.00[EUR][1000 genomes]
rs35190409	1.00[EUR][1000 genomes]
rs36024215	1.00[EUR][1000 genomes]
rs45439592	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45459094	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45463194	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45482593	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45542141	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45551231	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45583435	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45617042	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45618138	1.00[EUR][1000 genomes]
rs45620339	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61739430	1.00[EUR][1000 genomes]
rs7246161	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7246227	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7246591	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73562334	1.00[EUR][1000 genomes]
rs73562336	1.00[EUR][1000 genomes]
rs8105027	1.00[EUR][1000 genomes]
rs8106654	1.00[EUR][1000 genomes]
rs9676326	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1057390	chr19:43003323-43173028	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS 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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43013800-43032000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr19:43016000-43032400	Weak transcription	Brain Anterior Caudate	brain
3	chr19:43016600-43031800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:43017400-43031400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr19:43023200-43032400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr19:43023600-43031600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:43023600-43032200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:43023600-43033200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:43025600-43032000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:43025600-43032400	Weak transcription	Right Ventricle	heart
11	chr19:43026200-43032800	Weak transcription	Fetal Stomach	stomach
12	chr19:43028200-43032400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr19:43028400-43031400	Transcr. at gene 5' and 3'	HepG2	liver
14	chr19:43028400-43032000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr19:43028600-43032200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr19:43028800-43031800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:43028800-43032000	Weak transcription	GM12878-XiMat	blood
18	chr19:43028800-43032400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr19:43029000-43031000	Weak transcription	Spleen	Spleen
20	chr19:43029000-43031800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr19:43029000-43031800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:43029000-43032400	Active TSS	Colonic Mucosa	Colon
23	chr19:43029200-43031400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:43029200-43032000	Weak transcription	Gastric	stomach
25	chr19:43029200-43032200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr19:43029200-43032400	Enhancers	Stomach Mucosa	stomach
27	chr19:43029800-43031800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr19:43030000-43032000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr19:43030400-43031000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:43030400-43031000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
31	chr19:43030400-43031200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr19:43030400-43031400	Enhancers	Adipose Nuclei	Adipose
33	chr19:43030400-43031600	Enhancers	Primary T cells from cord blood	blood
34	chr19:43030400-43031600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr19:43030400-43031800	Enhancers	Lung	lung
36	chr19:43030400-43032400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr19:43030400-43032400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr19:43030400-43033000	Active TSS	Esophagus	oesophagus
39	chr19:43030400-43033000	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr19:43030400-43033400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr19:43030400-43033600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr19:43030400-43033600	Active TSS	Rectal Smooth Muscle	rectum
43	chr19:43030600-43031000	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr19:43030600-43031000	Active TSS	Small Intestine	intestine
45	chr19:43030600-43031200	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
46	chr19:43030600-43031200	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr19:43030600-43032000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr19:43030600-43032200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr19:43030800-43031000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr19:43030800-43031200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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