Variant report

Variant	rs73552879
Chromosome Location	chr19:42776835-42776836
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	chr19:42775700..42778314-chr19:42814238..42816528,2	K562	blood:

Extended variants
information (count: 103 )
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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406800	1.00[AMR][1000 genomes]
rs10406972	1.00[EUR][1000 genomes]
rs10407085	1.00[EUR][1000 genomes]
rs10407155	1.00[EUR][1000 genomes]
rs10407842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10408258	1.00[EUR][1000 genomes]
rs10409428	1.00[EUR][1000 genomes]
rs10409433	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10409939	1.00[EUR][1000 genomes]
rs10410129	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10410653	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10411498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10411908	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10413484	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10415759	1.00[AMR][1000 genomes]
rs10415999	1.00[EUR][1000 genomes]
rs10416535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10418312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421409	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[EUR][1000 genomes]
rs10423978	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[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[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]
rs13346837	1.00[EUR][1000 genomes]
rs2229614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28463673	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28469564	0.87[AFR][1000 genomes];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	0.95[AFR][1000 genomes];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]
rs28699037	0.87[AFR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248473	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]
rs73554520	1.00[EUR][1000 genomes]
rs73554531	1.00[EUR][1000 genomes]
rs73558432	1.00[AMR][1000 genomes]
rs8099885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8109258	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:21 , 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	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	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
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
11	nsv911784	chr19:42741124-42787664	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
12	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
13	nsv911786	chr19:42744234-42797959	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
14	esv1802977	chr19:42754437-42789945	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
15	esv1801251	chr19:42768288-42788467	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
16	esv1803455	chr19:42768288-42788467	Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
17	esv1803706	chr19:42768288-42788467	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
18	esv1801291	chr19:42772432-42788467	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
19	esv1801294	chr19:42772432-42788467	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
20	esv1801914	chr19:42772432-42788467	Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
21	nsv911787	chr19:42773862-42795554	Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42774200-42778400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:42774400-42783600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:42774600-42777400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr19:42774800-42777200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr19:42775000-42777200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:42775000-42778800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:42775400-42781400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr19:42775400-42781800	Weak transcription	Small Intestine	intestine
9	chr19:42775400-42782000	Genic enhancers	Primary T cells fromperipheralblood	blood
10	chr19:42775600-42777000	Genic enhancers	HMEC	breast
11	chr19:42775600-42777200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:42775600-42778000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:42775600-42778600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr19:42775600-42778800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr19:42775600-42778800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:42775600-42779800	Strong transcription	NHLF	lung
17	chr19:42775600-42781400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:42775800-42777000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:42775800-42777000	Strong transcription	HepG2	liver
20	chr19:42775800-42777400	Weak transcription	Fetal Lung	lung
21	chr19:42775800-42777400	Weak transcription	NHDF-Ad	bronchial
22	chr19:42775800-42777600	Weak transcription	K562	blood
23	chr19:42775800-42777800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:42775800-42778000	Strong transcription	Fetal Muscle Leg	muscle
25	chr19:42775800-42778600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr19:42775800-42778600	Strong transcription	Brain Anterior Caudate	brain
27	chr19:42775800-42778600	Weak transcription	HSMMtube	muscle
28	chr19:42775800-42778600	Weak transcription	NH-A	brain
29	chr19:42775800-42778800	Weak transcription	HSMM	muscle
30	chr19:42775800-42779200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:42775800-42780200	Strong transcription	Colonic Mucosa	Colon
32	chr19:42775800-42780400	Strong transcription	Fetal Stomach	stomach
33	chr19:42775800-42780600	Weak transcription	Fetal Heart	heart
34	chr19:42775800-42780600	Genic enhancers	Spleen	Spleen
35	chr19:42775800-42781600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr19:42775800-42781800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:42775800-42782400	Weak transcription	Fetal Kidney	kidney
38	chr19:42775800-42783600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr19:42776000-42777000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:42776000-42777000	Weak transcription	GM12878-XiMat	blood
41	chr19:42776000-42777200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:42776000-42777200	Weak transcription	Brain Substantia Nigra	brain
43	chr19:42776000-42777200	Weak transcription	Fetal Brain Male	brain
44	chr19:42776000-42778000	Strong transcription	Placenta	Placenta
45	chr19:42776000-42778200	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr19:42776000-42778400	Strong transcription	Thymus	Thymus
47	chr19:42776000-42778600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:42776000-42778600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:42776000-42778600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:42776000-42778600	Strong transcription	Adipose Nuclei	Adipose

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