Variant report

Variant	rs3786540
Chromosome Location	chr19:42613195-42613196
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42612431..42613391-chr19:42826906..42827875,2	MCF-7	breast:
2	chr19:42611924..42613336-chr19:42799896..42800871,7	K562	blood:
3	chr19:42612405..42613325-chr19:42794536..42795840,5	MCF-7	breast:
4	chr19:42612411..42613357-chr19:42683156..42684169,3	K562	blood:
5	chr19:42612371..42613589-chr19:42937505..42938430,9	K562	blood:
6	chr19:42612409..42613281-chr19:42626440..42627050,3	MCF-7	breast:
7	chr19:42612059..42613661-chr19:42625965..42627481,6	MCF-7	breast:
8	chr19:42612414..42613322-chr19:42829075..42829906,2	K562	blood:
9	chr19:42612442..42613286-chr19:42637233..42637883,2	MCF-7	breast:
10	chr19:42612413..42613569-chr19:42636870..42637825,3	K562	blood:
11	chr19:42612392..42613330-chr19:42688089..42689604,8	MCF-7	breast:
12	chr19:42612418..42613472-chr19:42688181..42689150,6	K562	blood:
13	chr19:42596195..42596740-chr19:42612766..42613352,2	MCF-7	breast:
14	chr19:42612633..42613326-chr19:42943887..42945182,4	MCF-7	breast:
15	chr19:42612391..42613298-chr19:42944161..42945178,7	K562	blood:
16	chr19:42612321..42613272-chr19:42829060..42829795,3	MCF-7	breast:
17	chr19:42612397..42613365-chr19:42905227..42906101,2	MCF-7	breast:
18	chr19:42612343..42613301-chr19:42905175..42906181,6	K562	blood:
19	chr19:42612768..42613292-chr19:42688394..42689113,3	MCF-7	breast:
20	chr19:42580206..42583142-chr19:42611291..42613198,2	K562	blood:
21	chr19:42612434..42613251-chr19:42905128..42906073,2	MCF-7	breast:
22	chr19:42538731..42539505-chr19:42612416..42613333,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000028277	Chromatin interaction
ENSG00000105732	Chromatin interaction
ENSG00000105429	Chromatin interaction
ENSG00000266226	Chromatin interaction
ENSG00000213904	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs35863918	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42586600-42626600	Weak transcription	Brain Anterior Caudate	brain
2	chr19:42586600-42627600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:42586600-42631600	Weak transcription	Brain Angular Gyrus	brain
4	chr19:42593600-42614800	Weak transcription	Osteobl	bone
5	chr19:42596000-42625200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:42599200-42620000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr19:42603600-42625200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:42604000-42616800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr19:42604200-42619200	Weak transcription	Fetal Brain Female	brain
10	chr19:42606600-42613200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr19:42609600-42613200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:42609800-42613400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:42609800-42615200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:42610000-42620400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr19:42610200-42613600	Weak transcription	Primary T cells from cord blood	blood
16	chr19:42612200-42613200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr19:42612400-42613200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr19:42612600-42613400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr19:42612600-42613400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr19:42612600-42613600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr19:42612600-42614000	Genic enhancers	Primary B cells from cord blood	blood
22	chr19:42612600-42618400	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr19:42612800-42613200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:42612800-42613200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:42612800-42613200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr19:42612800-42613200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:42612800-42613200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:42612800-42613200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:42612800-42613400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:42612800-42613400	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr19:42612800-42613600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:42612800-42613600	Enhancers	HMEC	breast
33	chr19:42612800-42613600	Genic enhancers	Monocytes-CD14+_RO01746	blood
34	chr19:42612800-42613800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr19:42612800-42615200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:42613000-42613200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr19:42613000-42613200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:42613000-42613200	Flanking Active TSS	GM12878-XiMat	blood
39	chr19:42613000-42613200	Enhancers	HSMM	muscle
40	chr19:42613000-42613200	Enhancers	HSMMtube	muscle
41	chr19:42613000-42613200	Enhancers	HUVEC	blood vessel
42	chr19:42613000-42613400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr19:42613000-42613400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr19:42613000-42613400	Genic enhancers	Primary monocytes fromperipheralblood	blood
45	chr19:42613000-42613400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr19:42613000-42613400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:42613000-42613400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr19:42613000-42613400	Enhancers	Fetal Heart	heart
49	chr19:42613000-42613400	Enhancers	Placenta	Placenta
50	chr19:42613000-42613400	Enhancers	Left Ventricle	heart

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