Variant report

Variant	rs3786496
Chromosome Location	chr19:45003843-45003844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44997533..44999316-chr19:45001592..45004032,2	K562	blood:
2	chr19:44669130..44670714-chr19:45003024..45005915,2	MCF-7	breast:
3	chr19:44331547..44333384-chr19:45002930..45004694,2	MCF-7	breast:
4	chr19:44687900..44689618-chr19:45001604..45004492,2	K562	blood:

Variant related genes	Relation type
ENSG00000167380	Chromatin interaction
ENSG00000167637	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10402981	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10407028	1.00[JPT][hapmap]
rs10407556	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668999	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs13345032	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465723	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16959164	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs16979124	1.00[JPT][hapmap]
rs16979130	1.00[JPT][hapmap]
rs16979134	1.00[JPT][hapmap]
rs16979139	1.00[JPT][hapmap]
rs16979226	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1813064	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2117384	1.00[JPT][hapmap]
rs2571048	0.88[JPT][hapmap]
rs2571050	1.00[JPT][hapmap]
rs2686758	0.85[JPT][hapmap]
rs55882928	0.86[EUR][1000 genomes]
rs926020	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44994400-45004000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:44995200-45004200	ZNF genes & repeats	Fetal Intestine Small	intestine
3	chr19:45001800-45004600	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr19:45002600-45004000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr19:45002800-45004000	Flanking Active TSS	Brain Angular Gyrus	brain
6	chr19:45002800-45004000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:45002800-45004000	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr19:45002800-45004000	Flanking Active TSS	Hela-S3	cervix
9	chr19:45002800-45004400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr19:45003000-45004000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:45003000-45004000	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr19:45003000-45004000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:45003000-45004000	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr19:45003000-45004000	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr19:45003000-45004000	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr19:45003000-45004000	Flanking Active TSS	Colon Smooth Muscle	Colon
17	chr19:45003000-45004000	Flanking Active TSS	Fetal Brain Female	brain
18	chr19:45003000-45004200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:45003000-45004200	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr19:45003000-45004200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr19:45003000-45004400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr19:45003000-45004600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
23	chr19:45003000-45004800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:45003000-45005400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr19:45003000-45005600	Active TSS	H9 Cell Line	embryonic stem cell
26	chr19:45003200-45004000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:45003200-45004000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
28	chr19:45003200-45004200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr19:45003200-45004200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:45003200-45004200	Flanking Active TSS	Liver	Liver
31	chr19:45003200-45004200	Flanking Active TSS	HMEC	breast
32	chr19:45003200-45004400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr19:45003200-45004400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:45003200-45005400	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr19:45003400-45004000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:45003400-45004000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:45003400-45004000	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr19:45003400-45004000	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr19:45003400-45004000	Flanking Active TSS	NH-A	brain
40	chr19:45003400-45004200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:45003400-45004200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr19:45003400-45004200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr19:45003400-45004200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr19:45003400-45004200	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr19:45003400-45004200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr19:45003400-45004200	Flanking Active TSS	Pancreas	Pancrea
47	chr19:45003400-45004200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr19:45003400-45004200	Flanking Active TSS	Right Ventricle	heart
49	chr19:45003400-45004200	Flanking Active TSS	Stomach Mucosa	stomach
50	chr19:45003400-45004200	Flanking Active TSS	HUVEC	blood vessel

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