Variant report

Variant	rs11878811
Chromosome Location	chr19:42594483-42594484
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42592734..42594940-chr19:42596414..42600451,3	K562	blood:
2	chr19:42590760..42592697-chr19:42594281..42595900,2	K562	blood:
3	chr19:42593805..42596172-chr19:42919024..42921548,2	K562	blood:
4	chr19:42585326..42588805-chr19:42593865..42598286,4	MCF-7	breast:
5	chr19:42588900..42591593-chr19:42593141..42596023,2	K562	blood:
6	chr19:42579277..42583219-chr19:42593015..42597693,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105732	Chromatin interaction
ENSG00000028277	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10417495	1.00[CEU][hapmap]
rs10419314	1.00[CEU][hapmap]
rs11083640	1.00[CEU][hapmap]
rs11878959	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11881323	1.00[CEU][hapmap]
rs11882103	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11882606	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883099	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883406	1.00[AMR][1000 genomes]
rs12104228	1.00[CEU][hapmap]
rs2288512	1.00[CEU][hapmap]
rs45618138	1.00[AMR][1000 genomes]
rs61739430	1.00[AMR][1000 genomes]
rs7253691	1.00[CEU][hapmap]
rs7260129	1.00[CEU][hapmap]
rs8113686	1.00[CEU][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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42582200-42596000	Weak transcription	Right Atrium	heart
2	chr19:42582200-42597800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:42582400-42594800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:42582400-42595600	Weak transcription	Fetal Heart	heart
5	chr19:42582400-42595800	Weak transcription	Hela-S3	cervix
6	chr19:42582400-42597800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:42585800-42595600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr19:42585800-42595800	Weak transcription	Small Intestine	intestine
9	chr19:42586000-42594800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:42586000-42595600	Weak transcription	Gastric	stomach
11	chr19:42586000-42595800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:42586000-42598800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:42586000-42601600	Weak transcription	Pancreas	Pancrea
14	chr19:42586000-42606400	Weak transcription	Liver	Liver
15	chr19:42586200-42595400	Weak transcription	Esophagus	oesophagus
16	chr19:42586200-42595400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr19:42586200-42598400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:42586200-42600400	Weak transcription	Brain Substantia Nigra	brain
19	chr19:42586400-42596000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr19:42586400-42596200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr19:42586400-42597800	Weak transcription	Primary T cells from cord blood	blood
22	chr19:42586600-42595600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:42586600-42595800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:42586600-42595800	Weak transcription	K562	blood
25	chr19:42586600-42596000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:42586600-42596000	Weak transcription	Right Ventricle	heart
27	chr19:42586600-42597400	Weak transcription	Brain Germinal Matrix	brain
28	chr19:42586600-42598400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:42586600-42599800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:42586600-42626600	Weak transcription	Brain Anterior Caudate	brain
31	chr19:42586600-42627600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:42586600-42631600	Weak transcription	Brain Angular Gyrus	brain
33	chr19:42586800-42596400	Weak transcription	Dnd41	blood
34	chr19:42587000-42598000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:42588400-42595800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr19:42588800-42594600	Weak transcription	Fetal Brain Female	brain
37	chr19:42588800-42596400	Weak transcription	Thymus	Thymus
38	chr19:42590000-42595200	Enhancers	Primary B cells from peripheral blood	blood
39	chr19:42591800-42594600	Enhancers	GM12878-XiMat	blood
40	chr19:42591800-42594800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:42592200-42597800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:42592800-42594600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr19:42592800-42595400	Enhancers	Spleen	Spleen
44	chr19:42592800-42596200	Enhancers	Primary T cells fromperipheralblood	blood
45	chr19:42592800-42597600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr19:42593000-42594800	Weak transcription	Fetal Muscle Leg	muscle
47	chr19:42593000-42596400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:42593200-42595800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr19:42593200-42596800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:42593200-42598800	Weak transcription	Aorta	Aorta

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