Variant report

Variant	rs11085244
Chromosome Location	chr19:18859680-18859681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18858306..18860154-chr19:18868141..18869862,2	K562	blood:
2	chr19:18849045..18850624-chr19:18859280..18861628,2	K562	blood:
3	chr19:18855855..18857824-chr19:18858348..18860462,2	K562	blood:
4	chr19:18858094..18859912-chr19:18886098..18888648,2	K562	blood:
5	chr19:18859108..18863063-chr19:18866174..18869359,4	MCF-7	breast:
6	chr19:18852663..18855419-chr19:18858322..18861554,4	K562	blood:
7	chr19:18858534..18861559-chr19:18942339..18944320,3	MCF-7	breast:
8	chr19:18853504..18856247-chr19:18858695..18863909,4	MCF-7	breast:
9	chr19:18852199..18855419-chr19:18858322..18861206,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000005007	Chromatin interaction
ENSG00000105662	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11085242	0.84[EUR][1000 genomes]
rs2051816	0.88[EUR][1000 genomes]
rs7256986	0.89[CEU][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' 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
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11085244	OR10H5	cis	cerebellum	SCAN
rs11085244	UNC13A	cis	parietal	SCAN
rs11085244	PBX4	cis	parietal	SCAN
rs11085244	ANKLE1	cis	parietal	SCAN
rs11085244	CHERP	cis	parietal	SCAN
rs11085244	DDX49	cis	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18821200-18860600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr19:18821200-18861000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr19:18821200-18864800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr19:18827600-18860600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:18829200-18860000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr19:18829200-18861400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr19:18833800-18860400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr19:18833800-18860800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr19:18835000-18860600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr19:18842800-18861000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr19:18843000-18860600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:18844200-18872800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr19:18844400-18859800	Weak transcription	Fetal Brain Female	brain
14	chr19:18844400-18867400	Weak transcription	HSMMtube	muscle
15	chr19:18844600-18860600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:18844600-18872800	Weak transcription	NH-A	brain
17	chr19:18844800-18871800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr19:18846000-18864200	Weak transcription	Primary B cells from cord blood	blood
19	chr19:18846800-18871600	Weak transcription	Fetal Brain Male	brain
20	chr19:18846800-18872400	Weak transcription	Colon Smooth Muscle	Colon
21	chr19:18848000-18860400	Weak transcription	Brain Angular Gyrus	brain
22	chr19:18848600-18860600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:18849200-18873000	Weak transcription	Psoas Muscle	Psoas
24	chr19:18849400-18860600	Weak transcription	Liver	Liver
25	chr19:18850600-18860800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:18850800-18867400	Weak transcription	Thymus	Thymus
27	chr19:18852800-18860000	Weak transcription	Brain Substantia Nigra	brain
28	chr19:18852800-18860200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr19:18852800-18860400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:18852800-18860600	Weak transcription	Brain Anterior Caudate	brain
31	chr19:18853200-18860200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr19:18853400-18861800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr19:18853600-18860000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:18854000-18860400	Weak transcription	Adipose Nuclei	Adipose
35	chr19:18854000-18864200	Weak transcription	Esophagus	oesophagus
36	chr19:18854000-18866400	Weak transcription	Dnd41	blood
37	chr19:18854000-18867400	Weak transcription	HepG2	liver
38	chr19:18854400-18859800	Weak transcription	Lung	lung
39	chr19:18854400-18861000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr19:18854400-18864400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr19:18854400-18873200	Weak transcription	NHLF	lung
42	chr19:18854600-18859800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr19:18854600-18860000	Weak transcription	Colonic Mucosa	Colon
44	chr19:18854600-18861800	Weak transcription	Pancreas	Pancrea
45	chr19:18854600-18867400	Weak transcription	HMEC	breast
46	chr19:18854600-18872800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr19:18854600-18895800	Weak transcription	Right Atrium	heart
48	chr19:18854800-18860000	Weak transcription	K562	blood
49	chr19:18854800-18861400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr19:18854800-18861400	Weak transcription	Gastric	stomach

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