Variant report

Variant	rs28715574
Chromosome Location	chr19:42878537-42878538
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	chr19:42876139..42879164-chr19:42881326..42883970,3	K562	blood:
2	chr19:42877710..42882925-chr19:42884420..42888840,5	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10401224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10402438	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10404650	1.00[EUR][1000 genomes]
rs10406972	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10407085	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10407155	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10407842	1.00[EUR][1000 genomes]
rs10408258	1.00[EUR][1000 genomes]
rs10409428	1.00[EUR][1000 genomes]
rs10409433	1.00[EUR][1000 genomes]
rs10409939	1.00[EUR][1000 genomes]
rs10410129	1.00[EUR][1000 genomes]
rs10410653	1.00[EUR][1000 genomes]
rs10411498	1.00[EUR][1000 genomes]
rs10411908	1.00[EUR][1000 genomes]
rs10413484	1.00[EUR][1000 genomes]
rs10415999	1.00[EUR][1000 genomes]
rs10416535	1.00[EUR][1000 genomes]
rs10418312	1.00[EUR][1000 genomes]
rs10421409	1.00[EUR][1000 genomes]
rs10421510	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10421857	1.00[EUR][1000 genomes]
rs10422301	1.00[EUR][1000 genomes]
rs10422867	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10423812	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423959	1.00[EUR][1000 genomes]
rs10423978	1.00[EUR][1000 genomes]
rs10424402	1.00[EUR][1000 genomes]
rs10424939	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10425003	1.00[EUR][1000 genomes]
rs10425320	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425783	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10426267	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10426284	1.00[EUR][1000 genomes]
rs11878207	1.00[EUR][1000 genomes]
rs11878297	1.00[EUR][1000 genomes]
rs11879073	1.00[EUR][1000 genomes]
rs11879538	1.00[EUR][1000 genomes]
rs11880214	1.00[EUR][1000 genomes]
rs11880356	1.00[EUR][1000 genomes]
rs11882107	1.00[EUR][1000 genomes]
rs11882801	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12165130	1.00[EUR][1000 genomes]
rs13343322	1.00[EUR][1000 genomes]
rs13343388	1.00[EUR][1000 genomes]
rs13343719	1.00[EUR][1000 genomes]
rs13343761	1.00[EUR][1000 genomes]
rs13343834	1.00[EUR][1000 genomes]
rs13343966	1.00[EUR][1000 genomes]
rs13346837	1.00[EUR][1000 genomes]
rs2229614	1.00[EUR][1000 genomes]
rs28463673	1.00[EUR][1000 genomes]
rs28469564	1.00[EUR][1000 genomes]
rs28474957	1.00[EUR][1000 genomes]
rs28483598	1.00[EUR][1000 genomes]
rs28496975	1.00[EUR][1000 genomes]
rs28657829	1.00[EUR][1000 genomes]
rs28663042	1.00[EUR][1000 genomes]
rs28675019	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28675764	1.00[EUR][1000 genomes]
rs28699037	1.00[EUR][1000 genomes]
rs28711448	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs33919763	1.00[EUR][1000 genomes]
rs35707383	1.00[EUR][1000 genomes]
rs36089262	1.00[EUR][1000 genomes]
rs59870753	1.00[EUR][1000 genomes]
rs60950516	1.00[EUR][1000 genomes]
rs7246232	1.00[EUR][1000 genomes]
rs7248473	1.00[EUR][1000 genomes]
rs7254853	1.00[EUR][1000 genomes]
rs7255343	1.00[EUR][1000 genomes]
rs7258727	1.00[EUR][1000 genomes]
rs73552879	1.00[EUR][1000 genomes]
rs73554520	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73554531	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8099885	1.00[EUR][1000 genomes]
rs8109258	1.00[EUR][1000 genomes]
rs9304602	1.00[EUR][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	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	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42830800-42879200	Weak transcription	Small Intestine	intestine
2	chr19:42830800-42884200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr19:42831600-42882600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr19:42862600-42878800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr19:42868400-42879200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr19:42868400-42881400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr19:42868400-42882400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr19:42868600-42878800	Weak transcription	Esophagus	oesophagus
9	chr19:42868600-42878800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:42868600-42879000	Weak transcription	Aorta	Aorta
11	chr19:42868600-42882600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:42868800-42878800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr19:42868800-42878800	Weak transcription	Gastric	stomach
14	chr19:42868800-42878800	Weak transcription	Thymus	Thymus
15	chr19:42868800-42878800	Weak transcription	Dnd41	blood
16	chr19:42868800-42880800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr19:42868800-42882000	Strong transcription	Fetal Stomach	stomach
18	chr19:42869000-42878800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr19:42869000-42878800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr19:42869000-42883400	Weak transcription	Primary T cells from cord blood	blood
21	chr19:42869000-42884400	Weak transcription	Colonic Mucosa	Colon
22	chr19:42869200-42879000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr19:42869400-42878800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:42869600-42880200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:42869600-42890800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:42869800-42878800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:42870800-42881400	Strong transcription	Brain Anterior Caudate	brain
28	chr19:42871000-42878800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:42871400-42878800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr19:42871400-42890800	Weak transcription	Psoas Muscle	Psoas
31	chr19:42871800-42881400	Strong transcription	Fetal Brain Female	brain
32	chr19:42872000-42878800	Weak transcription	Left Ventricle	heart
33	chr19:42872000-42884800	Weak transcription	A549	lung
34	chr19:42872200-42883800	Weak transcription	Fetal Brain Male	brain
35	chr19:42872400-42881400	Strong transcription	Ovary	ovary
36	chr19:42873600-42880400	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr19:42873800-42879800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:42874400-42891000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:42874800-42881400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:42874800-42881600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr19:42874800-42884400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:42875000-42878800	Weak transcription	K562	blood
43	chr19:42875000-42881400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:42875000-42881400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:42875000-42881400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:42875000-42882200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr19:42875200-42881600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:42875200-42881800	Weak transcription	HSMM	muscle
49	chr19:42875200-42882800	Weak transcription	GM12878-XiMat	blood
50	chr19:42875600-42878800	Weak transcription	Brain Angular Gyrus	brain

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