Variant report

Variant	rs7248473
Chromosome Location	chr19:42881231-42881232
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	chr19:42877710..42882925-chr19:42884420..42888840,5	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10401224	1.00[EUR][1000 genomes]
rs10402438	1.00[EUR][1000 genomes]
rs10403856	1.00[AMR][1000 genomes]
rs10404650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406800	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs10406972	1.00[EUR][1000 genomes]
rs10407085	1.00[EUR][1000 genomes]
rs10407155	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10407842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10408258	1.00[EUR][1000 genomes]
rs10408986	1.00[AMR][1000 genomes]
rs10409428	1.00[EUR][1000 genomes]
rs10409433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10409939	1.00[EUR][1000 genomes]
rs10410129	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10410174	1.00[AMR][1000 genomes]
rs10410653	1.00[ASW][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10411498	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10411908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10413484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10414695	1.00[AMR][1000 genomes]
rs10415759	1.00[AMR][1000 genomes]
rs10415999	1.00[EUR][1000 genomes]
rs10416535	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10417606	1.00[AMR][1000 genomes]
rs10418102	1.00[AMR][1000 genomes]
rs10418312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10418988	1.00[AMR][1000 genomes]
rs10420327	1.00[AMR][1000 genomes]
rs10421331	1.00[AMR][1000 genomes]
rs10421409	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421510	1.00[EUR][1000 genomes]
rs10421857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421902	1.00[AMR][1000 genomes]
rs10422301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422867	1.00[EUR][1000 genomes]
rs10423812	1.00[EUR][1000 genomes]
rs10423959	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10423978	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10424402	1.00[EUR][1000 genomes]
rs10425003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425320	1.00[EUR][1000 genomes]
rs10425783	1.00[EUR][1000 genomes]
rs10426267	1.00[EUR][1000 genomes]
rs10426284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878207	1.00[AMR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882107	1.00[EUR][1000 genomes]
rs11882801	1.00[EUR][1000 genomes]
rs12165130	1.00[EUR][1000 genomes]
rs13343322	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343761	1.00[ASW][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13346831	1.00[AMR][1000 genomes]
rs13346837	1.00[EUR][1000 genomes]
rs13346879	1.00[AMR][1000 genomes]
rs2229614	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28402882	1.00[AMR][1000 genomes]
rs28463673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28469564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28474957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28483598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28496975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28657829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28663042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28675019	1.00[EUR][1000 genomes]
rs28675764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28686771	1.00[AMR][1000 genomes]
rs28699037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28711448	1.00[EUR][1000 genomes]
rs28715574	1.00[EUR][1000 genomes]
rs33919763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35707383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36089262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41407146	1.00[AMR][1000 genomes]
rs59870753	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60950516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246232	1.00[ASW][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7255343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258854	1.00[TSI][hapmap]
rs73552879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73554520	1.00[EUR][1000 genomes]
rs73554531	1.00[EUR][1000 genomes]
rs73558432	1.00[AMR][1000 genomes]
rs73560411	1.00[AMR][1000 genomes]
rs8099885	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8109258	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9304602	1.00[AMR][1000 genomes];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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42830800-42884200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr19:42831600-42882600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr19:42868400-42881400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr19:42868400-42882400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr19:42868600-42882600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:42868800-42882000	Strong transcription	Fetal Stomach	stomach
7	chr19:42869000-42883400	Weak transcription	Primary T cells from cord blood	blood
8	chr19:42869000-42884400	Weak transcription	Colonic Mucosa	Colon
9	chr19:42869600-42890800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:42870800-42881400	Strong transcription	Brain Anterior Caudate	brain
11	chr19:42871400-42890800	Weak transcription	Psoas Muscle	Psoas
12	chr19:42871800-42881400	Strong transcription	Fetal Brain Female	brain
13	chr19:42872000-42884800	Weak transcription	A549	lung
14	chr19:42872200-42883800	Weak transcription	Fetal Brain Male	brain
15	chr19:42872400-42881400	Strong transcription	Ovary	ovary
16	chr19:42874400-42891000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:42874800-42881400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:42874800-42881600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr19:42874800-42884400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:42875000-42881400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:42875000-42881400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:42875000-42881400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:42875000-42882200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr19:42875200-42881600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:42875200-42881800	Weak transcription	HSMM	muscle
26	chr19:42875200-42882800	Weak transcription	GM12878-XiMat	blood
27	chr19:42875600-42881400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr19:42875600-42881800	Strong transcription	Fetal Intestine Small	intestine
29	chr19:42875800-42886000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr19:42876000-42882000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr19:42876000-42884000	Weak transcription	Brain Substantia Nigra	brain
32	chr19:42876200-42883800	Weak transcription	Colon Smooth Muscle	Colon
33	chr19:42876800-42883000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:42877200-42890800	Weak transcription	Primary B cells from cord blood	blood
35	chr19:42877200-42890800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr19:42877800-42881400	Strong transcription	Fetal Muscle Leg	muscle
37	chr19:42878000-42881400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr19:42878200-42881400	Strong transcription	Brain Hippocampus Middle	brain
39	chr19:42878200-42881400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:42878200-42881600	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr19:42878800-42881400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:42878800-42881800	Strong transcription	Brain Germinal Matrix	brain
43	chr19:42878800-42882800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:42879400-42885600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr19:42879400-42891000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr19:42879600-42881400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr19:42879600-42882800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:42879600-42883400	Weak transcription	Fetal Lung	lung
49	chr19:42879600-42884200	Weak transcription	Dnd41	blood
50	chr19:42879600-42890800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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