Variant report

Variant	rs1205817
Chromosome Location	chr19:42603776-42603777
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	chr19:42603656..42605647-chr19:42619655..42622073,2	K562	blood:

Variant related genes	Relation type
ENSG00000028277	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10407506	0.94[CEU][hapmap];0.81[TSI][hapmap]
rs1056995	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][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	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	nsv911783	chr19:42575462-42624662	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42586000-42606400	Weak transcription	Liver	Liver
2	chr19:42586600-42626600	Weak transcription	Brain Anterior Caudate	brain
3	chr19:42586600-42627600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr19:42586600-42631600	Weak transcription	Brain Angular Gyrus	brain
5	chr19:42593600-42614800	Weak transcription	Osteobl	bone
6	chr19:42594800-42613000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr19:42595000-42612800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr19:42595800-42604400	Strong transcription	Primary B cells from cord blood	blood
9	chr19:42596000-42625200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:42596200-42609600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr19:42596600-42605800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:42596800-42605800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:42597000-42604000	Strong transcription	GM12878-XiMat	blood
14	chr19:42597000-42612600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr19:42597000-42612600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr19:42597000-42613000	Weak transcription	NHDF-Ad	bronchial
17	chr19:42597400-42604800	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr19:42597400-42606600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr19:42597600-42604200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr19:42597600-42609600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:42597600-42609800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr19:42597800-42603800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:42597800-42604000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr19:42597800-42604200	Strong transcription	Primary T cells from cord blood	blood
25	chr19:42597800-42606000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr19:42597800-42609800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:42598600-42604200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:42599200-42620000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:42599400-42612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr19:42600000-42607200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:42600800-42604400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:42601000-42612600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr19:42601400-42604200	Strong transcription	Spleen	Spleen
34	chr19:42602600-42604000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:42603000-42603800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr19:42603000-42603800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr19:42603000-42604800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:42603200-42604000	Strong transcription	Brain Germinal Matrix	brain
39	chr19:42603200-42604200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr19:42603200-42604200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr19:42603400-42604000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr19:42603400-42604200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr19:42603400-42604200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr19:42603400-42604200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:42603400-42604200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr19:42603400-42604200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:42603400-42604200	Enhancers	Esophagus	oesophagus
48	chr19:42603400-42604200	Strong transcription	Fetal Brain Female	brain
49	chr19:42603400-42604600	Enhancers	Pancreas	Pancrea
50	chr19:42603400-42608600	Weak transcription	Primary hematopoietic stem cells	blood

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