Variant report

Variant	rs10408258
Chromosome Location	chr19:42844527-42844528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42840802..42843796-chr19:42844325..42846869,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10401224	1.00[EUR][1000 genomes]
rs10402438	1.00[EUR][1000 genomes]
rs10404650	1.00[EUR][1000 genomes]
rs10406972	1.00[EUR][1000 genomes]
rs10407085	1.00[EUR][1000 genomes]
rs10407155	1.00[EUR][1000 genomes]
rs10407842	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[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10411908	1.00[EUR][1000 genomes]
rs10413484	1.00[EUR][1000 genomes]
rs10414056	0.81[AFR][1000 genomes]
rs10415999	1.00[EUR][1000 genomes]
rs10416535	1.00[EUR][1000 genomes]
rs10418312	1.00[EUR][1000 genomes]
rs10421026	0.84[AFR][1000 genomes]
rs10421409	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10421510	1.00[EUR][1000 genomes]
rs10421857	1.00[EUR][1000 genomes]
rs10422301	1.00[EUR][1000 genomes]
rs10422867	1.00[EUR][1000 genomes]
rs10423812	1.00[EUR][1000 genomes]
rs10423959	1.00[EUR][1000 genomes]
rs10423978	1.00[EUR][1000 genomes]
rs10424402	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10425003	1.00[AFR][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[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11878207	0.84[AFR][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[AFR][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[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13343388	1.00[EUR][1000 genomes]
rs13343719	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13343761	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13343834	1.00[EUR][1000 genomes]
rs13343966	1.00[EUR][1000 genomes]
rs13345986	0.81[AFR][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	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28496975	1.00[EUR][1000 genomes]
rs28532592	0.81[AFR][1000 genomes]
rs28657829	1.00[EUR][1000 genomes]
rs28663042	1.00[EUR][1000 genomes]
rs28675019	1.00[EUR][1000 genomes]
rs28675764	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28699037	1.00[EUR][1000 genomes]
rs28711448	1.00[EUR][1000 genomes]
rs28715574	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[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60950516	1.00[EUR][1000 genomes]
rs6509012	0.81[AFR][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[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73552879	1.00[EUR][1000 genomes]
rs73554520	1.00[EUR][1000 genomes]
rs73554531	1.00[EUR][1000 genomes]
rs8099885	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8109258	1.00[AFR][1000 genomes];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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42830800-42851200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr19:42830800-42856400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:42830800-42867200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:42830800-42867600	Weak transcription	Fetal Kidney	kidney
5	chr19:42830800-42879200	Weak transcription	Small Intestine	intestine
6	chr19:42830800-42884200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr19:42831000-42856200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:42831000-42860600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr19:42831000-42874400	Weak transcription	HSMM	muscle
10	chr19:42831200-42847800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:42831200-42856600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:42831200-42856800	Weak transcription	Fetal Thymus	thymus
13	chr19:42831400-42867400	Weak transcription	Fetal Heart	heart
14	chr19:42831400-42867400	Weak transcription	NHEK	skin
15	chr19:42831600-42846200	Weak transcription	Primary T cells from cord blood	blood
16	chr19:42831600-42856400	Weak transcription	HMEC	breast
17	chr19:42831600-42856600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:42831600-42861800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:42831600-42882600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr19:42831800-42852200	Weak transcription	Colon Smooth Muscle	Colon
21	chr19:42831800-42873800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:42831800-42874800	Weak transcription	K562	blood
23	chr19:42833400-42867400	Weak transcription	GM12878-XiMat	blood
24	chr19:42835200-42849400	Weak transcription	Fetal Brain Male	brain
25	chr19:42835400-42867400	Strong transcription	Fetal Stomach	stomach
26	chr19:42836600-42861000	Weak transcription	Psoas Muscle	Psoas
27	chr19:42837400-42851600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr19:42837600-42850000	Strong transcription	Fetal Muscle Leg	muscle
29	chr19:42837800-42849200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:42838800-42846000	Weak transcription	Fetal Lung	lung
31	chr19:42839600-42847400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:42839800-42866800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr19:42840200-42850800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr19:42841000-42858200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr19:42841000-42867600	Weak transcription	Osteobl	bone
36	chr19:42841200-42845800	Weak transcription	Esophagus	oesophagus
37	chr19:42841200-42846000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr19:42841200-42847800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr19:42841200-42849000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:42841200-42858400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr19:42841200-42859600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr19:42841400-42845800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr19:42841400-42845800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr19:42841400-42845800	Weak transcription	HSMMtube	muscle
45	chr19:42841400-42846000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr19:42841400-42846000	Weak transcription	Brain Angular Gyrus	brain
47	chr19:42841400-42846000	Weak transcription	Brain Hippocampus Middle	brain
48	chr19:42841400-42846000	Weak transcription	Colonic Mucosa	Colon
49	chr19:42841400-42846000	Weak transcription	Thymus	Thymus
50	chr19:42841400-42848000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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