Variant report

Variant	rs11671088
Chromosome Location	chr19:42598215-42598216
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42597900..42600761-chr19:42786384..42788492,2	K562	blood:
2	chr19:42589857..42592329-chr19:42596114..42599320,3	K562	blood:
3	chr19:42578615..42581720-chr19:42596248..42598745,3	K562	blood:
4	chr19:42596213..42598326-chr19:42601765..42603750,3	MCF-7	breast:
5	chr19:42585326..42588805-chr19:42593865..42598286,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000079432	Chromatin interaction
ENSG00000105732	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11083643	1.00[LWK][hapmap]
rs11668239	1.00[LWK][hapmap]
rs11669918	1.00[LWK][hapmap]
rs12460885	1.00[LWK][hapmap]
rs12610025	1.00[LWK][hapmap]
rs12978003	1.00[LWK][hapmap]
rs12985559	1.00[LWK][hapmap]
rs2303797	1.00[LWK][hapmap]
rs28364793	1.00[LWK][hapmap]
rs34343924	1.00[LWK][hapmap]
rs3745226	1.00[LWK][hapmap]
rs9676263	1.00[LWK][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	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42586000-42598800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr19:42586000-42601600	Weak transcription	Pancreas	Pancrea
3	chr19:42586000-42606400	Weak transcription	Liver	Liver
4	chr19:42586200-42598400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:42586200-42600400	Weak transcription	Brain Substantia Nigra	brain
6	chr19:42586600-42598400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr19:42586600-42599800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:42586600-42626600	Weak transcription	Brain Anterior Caudate	brain
9	chr19:42586600-42627600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:42586600-42631600	Weak transcription	Brain Angular Gyrus	brain
11	chr19:42593200-42598800	Weak transcription	Aorta	Aorta
12	chr19:42593400-42599800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr19:42593400-42600000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:42593600-42614800	Weak transcription	Osteobl	bone
15	chr19:42593800-42598600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr19:42594600-42600000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr19:42594800-42613000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr19:42595000-42612800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr19:42595600-42598800	Enhancers	Adipose Nuclei	Adipose
20	chr19:42595800-42604400	Strong transcription	Primary B cells from cord blood	blood
21	chr19:42596000-42625200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr19:42596200-42600400	Weak transcription	Gastric	stomach
23	chr19:42596200-42600400	Weak transcription	NHLF	lung
24	chr19:42596200-42609600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr19:42596400-42599000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:42596600-42599000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:42596600-42600000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:42596600-42600000	Weak transcription	Lung	lung
29	chr19:42596600-42605800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:42596800-42599600	Weak transcription	Fetal Brain Male	brain
31	chr19:42596800-42599800	Weak transcription	Right Atrium	heart
32	chr19:42596800-42601200	Weak transcription	NHEK	skin
33	chr19:42596800-42602800	Weak transcription	Thymus	Thymus
34	chr19:42596800-42603200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr19:42596800-42605800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:42597000-42600000	Weak transcription	Colonic Mucosa	Colon
37	chr19:42597000-42604000	Strong transcription	GM12878-XiMat	blood
38	chr19:42597000-42612600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr19:42597000-42612600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr19:42597000-42613000	Weak transcription	NHDF-Ad	bronchial
41	chr19:42597400-42599200	Strong transcription	Brain Germinal Matrix	brain
42	chr19:42597400-42604800	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr19:42597400-42606600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr19:42597600-42598600	Enhancers	HUVEC	blood vessel
45	chr19:42597600-42599200	Strong transcription	Primary hematopoietic stem cells	blood
46	chr19:42597600-42599200	Strong transcription	Fetal Brain Female	brain
47	chr19:42597600-42600400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:42597600-42604200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:42597600-42609600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr19:42597600-42609800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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