Variant report

Variant	rs11540910
Chromosome Location	chr19:40029517-40029518
allele	A/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39977704..39980525-chr19:40028766..40030427,2	K562	blood:
2	chr19:39923941..39928347-chr19:40027705..40030840,3	MCF-7	breast:
3	chr19:39933642..39937454-chr19:40029470..40032868,6	MCF-7	breast:
4	chr19:39901022..39904778-chr19:40029097..40032980,4	MCF-7	breast:
5	chr19:39925083..39928891-chr19:40028576..40030872,3	K562	blood:
6	chr19:39890843..39892874-chr19:40028629..40030722,2	MCF-7	breast:
7	chr19:39880332..39881919-chr19:40028970..40031203,2	K562	blood:
8	chr19:39959218..39961854-chr19:40028748..40031663,2	K562	blood:
9	chr19:40023614..40026391-chr19:40028689..40031990,5	MCF-7	breast:
10	chr19:40019907..40024445-chr19:40029285..40031709,4	MCF-7	breast:
11	chr19:40024943..40026873-chr19:40027805..40030767,4	MCF-7	breast:
12	chr19:39931001..39933171-chr19:40029480..40031756,2	MCF-7	breast:
13	chr19:39925003..39927867-chr19:40028857..40032200,4	K562	blood:
14	chr19:39923771..39928393-chr19:40029138..40032183,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269792	Chromatin interaction
ENSG00000105197	Chromatin interaction
ENSG00000006712	Chromatin interaction
ENSG00000090924	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000176401	Chromatin interaction
ENSG00000105193	Chromatin interaction
ENSG00000269584	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56928606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61216770	1.00[AMR][1000 genomes]
rs73037260	1.00[AMR][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	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv911692	chr19:39979966-40046863	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv911693	chr19:39986241-40033574	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv911694	chr19:40015907-40031369	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40023600-40029800	Weak transcription	Aorta	Aorta
2	chr19:40023600-40029800	Weak transcription	Left Ventricle	heart
3	chr19:40024000-40029600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr19:40024000-40029600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:40024000-40029600	Weak transcription	Fetal Stomach	stomach
6	chr19:40024000-40029800	Weak transcription	Colonic Mucosa	Colon
7	chr19:40024200-40029800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:40028200-40029600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:40028400-40029600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr19:40028400-40029600	Enhancers	Brain Germinal Matrix	brain
11	chr19:40028400-40029600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr19:40028600-40029600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr19:40028600-40029600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:40028800-40029600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:40028800-40029600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr19:40028800-40029600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:40028800-40029600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr19:40028800-40029600	Enhancers	Liver	Liver
19	chr19:40028800-40029600	Enhancers	Brain Cingulate Gyrus	brain
20	chr19:40028800-40029600	Enhancers	Brain Hippocampus Middle	brain
21	chr19:40028800-40029600	Enhancers	Fetal Brain Male	brain
22	chr19:40028800-40029800	Enhancers	Brain Substantia Nigra	brain
23	chr19:40028800-40030200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:40029000-40029600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:40029000-40029600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:40029000-40029600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:40029000-40029600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr19:40029000-40029600	Enhancers	Colon Smooth Muscle	Colon
29	chr19:40029000-40029600	Enhancers	Duodenum Mucosa	Duodenum
30	chr19:40029000-40029600	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr19:40029000-40029600	Enhancers	Fetal Lung	lung
32	chr19:40029000-40029600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr19:40029000-40029600	Enhancers	Stomach Smooth Muscle	stomach
34	chr19:40029000-40029600	Enhancers	Hela-S3	cervix
35	chr19:40029000-40029600	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr19:40029000-40029600	Enhancers	Osteobl	bone
37	chr19:40029000-40029800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:40029000-40029800	Flanking Active TSS	GM12878-XiMat	blood
39	chr19:40029000-40030000	Flanking Active TSS	A549	lung
40	chr19:40029000-40030000	Flanking Active TSS	Dnd41	blood
41	chr19:40029000-40030200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr19:40029000-40030200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:40029000-40030600	Active TSS	Right Atrium	heart
44	chr19:40029200-40029600	Enhancers	Primary B cells from cord blood	blood
45	chr19:40029200-40029600	Enhancers	Primary hematopoietic stem cells	blood
46	chr19:40029200-40029600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:40029200-40029600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr19:40029200-40029600	Enhancers	Adipose Nuclei	Adipose
49	chr19:40029200-40029600	Enhancers	Fetal Brain Female	brain
50	chr19:40029200-40029600	Enhancers	Fetal Heart	heart

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