Variant report

Variant	rs28711448
Chromosome Location	chr19:42848444-42848445
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	chr19:42846351..42848638-chr19:42851979..42854844,2	K562	blood:
2	chr19:42846856..42849578-chr19:42849783..42852178,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10401224	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10402438	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10404650	1.00[EUR][1000 genomes]
rs10406972	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10407085	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10407155	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10407842	1.00[EUR][1000 genomes]
rs10408258	1.00[EUR][1000 genomes]
rs10409428	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421857	1.00[EUR][1000 genomes]
rs10422301	1.00[EUR][1000 genomes]
rs10422867	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423812	0.98[AFR][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	0.93[AFR][1000 genomes]
rs10425003	1.00[EUR][1000 genomes]
rs10425320	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10425783	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10426267	0.93[AFR][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	0.93[AFR][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	1.00[EUR][1000 genomes]
rs28675764	1.00[EUR][1000 genomes]
rs28699037	1.00[EUR][1000 genomes]
rs28715574	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73554531	1.00[AFR][1000 genomes];1.00[AMR][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: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	chr19:42831200-42856600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:42831200-42856800	Weak transcription	Fetal Thymus	thymus
12	chr19:42831400-42867400	Weak transcription	Fetal Heart	heart
13	chr19:42831400-42867400	Weak transcription	NHEK	skin
14	chr19:42831600-42856400	Weak transcription	HMEC	breast
15	chr19:42831600-42856600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr19:42831600-42861800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:42831600-42882600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr19:42831800-42852200	Weak transcription	Colon Smooth Muscle	Colon
19	chr19:42831800-42873800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr19:42831800-42874800	Weak transcription	K562	blood
21	chr19:42833400-42867400	Weak transcription	GM12878-XiMat	blood
22	chr19:42835200-42849400	Weak transcription	Fetal Brain Male	brain
23	chr19:42835400-42867400	Strong transcription	Fetal Stomach	stomach
24	chr19:42836600-42861000	Weak transcription	Psoas Muscle	Psoas
25	chr19:42837400-42851600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr19:42837600-42850000	Strong transcription	Fetal Muscle Leg	muscle
27	chr19:42837800-42849200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:42839800-42866800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr19:42840200-42850800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr19:42841000-42858200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr19:42841000-42867600	Weak transcription	Osteobl	bone
32	chr19:42841200-42849000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr19:42841200-42858400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr19:42841200-42859600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr19:42841400-42848600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:42841400-42851800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr19:42841400-42855400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr19:42841400-42855800	Weak transcription	Brain Substantia Nigra	brain
39	chr19:42841400-42859800	Weak transcription	NHLF	lung
40	chr19:42841400-42861000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr19:42841400-42865000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr19:42841600-42849600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:42841600-42851000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr19:42841600-42851200	Weak transcription	Primary B cells from cord blood	blood
45	chr19:42841600-42852000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr19:42841600-42855400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:42841600-42857400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr19:42841600-42860200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr19:42841600-42860400	Weak transcription	A549	lung
50	chr19:42841600-42867800	Weak transcription	HepG2	liver

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