Variant report

Variant	rs28572784
Chromosome Location	chr19:42882373-42882374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42882253..42884746-chr19:42889914..42891793,2	MCF-7	breast:
2	chr19:42877710..42882925-chr19:42884420..42888840,5	K562	blood:
3	chr19:42876139..42879164-chr19:42881326..42883970,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10401224	0.85[YRI][hapmap]
rs10403246	1.00[ASW][hapmap]
rs10409428	0.85[YRI][hapmap]
rs10409433	0.85[YRI][hapmap]
rs10410129	0.85[YRI][hapmap]
rs10410653	0.85[YRI][hapmap]
rs10412954	0.80[AFR][1000 genomes]
rs10413484	0.85[YRI][hapmap]
rs10414056	1.00[ASW][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10414620	0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs10415478	1.00[YRI][hapmap]
rs10416241	1.00[ASW][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs10419013	0.83[AFR][1000 genomes]
rs10421026	0.88[AFR][1000 genomes]
rs10421409	0.85[YRI][hapmap]
rs10425883	1.00[ASW][hapmap]
rs11880356	0.85[YRI][hapmap]
rs13343322	0.85[YRI][hapmap]
rs13343761	1.00[ASW][hapmap]
rs13345986	0.91[AFR][1000 genomes]
rs28532592	0.91[AFR][1000 genomes]
rs35620536	0.86[AFR][1000 genomes]
rs6509012	0.91[AFR][1000 genomes]
rs7258727	0.85[YRI][hapmap]
rs8099885	0.85[YRI][hapmap]
rs8109258	0.85[YRI][hapmap]

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:84 , 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	chr19:42868400-42882400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr19:42868600-42882600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:42869000-42883400	Weak transcription	Primary T cells from cord blood	blood
6	chr19:42869000-42884400	Weak transcription	Colonic Mucosa	Colon
7	chr19:42869600-42890800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:42871400-42890800	Weak transcription	Psoas Muscle	Psoas
9	chr19:42872000-42884800	Weak transcription	A549	lung
10	chr19:42872200-42883800	Weak transcription	Fetal Brain Male	brain
11	chr19:42874400-42891000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:42874800-42884400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:42875200-42882800	Weak transcription	GM12878-XiMat	blood
14	chr19:42875800-42886000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr19:42876000-42884000	Weak transcription	Brain Substantia Nigra	brain
16	chr19:42876200-42883800	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:42876800-42883000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:42877200-42890800	Weak transcription	Primary B cells from cord blood	blood
19	chr19:42877200-42890800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr19:42878800-42882800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:42879400-42885600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr19:42879400-42891000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr19:42879600-42882800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:42879600-42883400	Weak transcription	Fetal Lung	lung
25	chr19:42879600-42884200	Weak transcription	Dnd41	blood
26	chr19:42879600-42890800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:42879800-42883400	Weak transcription	Brain Angular Gyrus	brain
28	chr19:42879800-42883400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:42879800-42884200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr19:42879800-42884400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:42880000-42885200	Weak transcription	Left Ventricle	heart
32	chr19:42880000-42891000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:42880400-42882600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr19:42880400-42883200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:42880400-42883800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:42880400-42884600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr19:42880400-42885000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr19:42880400-42885600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr19:42880400-42891000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr19:42880600-42882600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:42880600-42882600	Weak transcription	Liver	Liver
42	chr19:42880600-42883000	Weak transcription	Adipose Nuclei	Adipose
43	chr19:42880600-42883800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr19:42880800-42882400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr19:42880800-42882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:42880800-42883000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr19:42880800-42883000	Weak transcription	Esophagus	oesophagus
48	chr19:42880800-42883000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr19:42880800-42883000	Weak transcription	Thymus	Thymus
50	chr19:42880800-42883400	Weak transcription	Pancreas	Pancrea

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