Variant report

Variant	rs56100221
Chromosome Location	chr19:18862759-18862760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18818727..18820395-chr19:18861333..18863526,2	MCF-7	breast:
2	chr19:18859108..18863063-chr19:18866174..18869359,4	MCF-7	breast:
3	chr19:18853504..18856247-chr19:18858695..18863909,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105662	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11085245	0.95[ASN][1000 genomes]
rs11668500	0.94[ASN][1000 genomes]
rs11878477	0.96[ASN][1000 genomes]
rs11878507	0.93[ASN][1000 genomes]
rs11881199	0.96[ASN][1000 genomes]
rs11881338	0.96[ASN][1000 genomes]
rs7260000	0.98[ASN][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

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18821200-18864800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr19:18844200-18872800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr19:18844400-18867400	Weak transcription	HSMMtube	muscle
4	chr19:18844600-18872800	Weak transcription	NH-A	brain
5	chr19:18844800-18871800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr19:18846000-18864200	Weak transcription	Primary B cells from cord blood	blood
7	chr19:18846800-18871600	Weak transcription	Fetal Brain Male	brain
8	chr19:18846800-18872400	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:18849200-18873000	Weak transcription	Psoas Muscle	Psoas
10	chr19:18850800-18867400	Weak transcription	Thymus	Thymus
11	chr19:18854000-18864200	Weak transcription	Esophagus	oesophagus
12	chr19:18854000-18866400	Weak transcription	Dnd41	blood
13	chr19:18854000-18867400	Weak transcription	HepG2	liver
14	chr19:18854400-18864400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr19:18854400-18873200	Weak transcription	NHLF	lung
16	chr19:18854600-18867400	Weak transcription	HMEC	breast
17	chr19:18854600-18872800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:18854600-18895800	Weak transcription	Right Atrium	heart
19	chr19:18854800-18864200	Weak transcription	Left Ventricle	heart
20	chr19:18854800-18872800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr19:18855200-18865800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr19:18856600-18864200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:18856600-18872200	Weak transcription	Fetal Heart	heart
24	chr19:18857200-18873600	Weak transcription	Fetal Kidney	kidney
25	chr19:18857800-18864200	Weak transcription	Osteobl	bone
26	chr19:18857800-18867200	Weak transcription	NHEK	skin
27	chr19:18858000-18864200	Weak transcription	HSMM	muscle
28	chr19:18858000-18867600	Weak transcription	Fetal Thymus	thymus
29	chr19:18858200-18867400	Strong transcription	Fetal Intestine Small	intestine
30	chr19:18858400-18864200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:18858400-18867400	Weak transcription	Fetal Lung	lung
32	chr19:18858600-18867400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr19:18858800-18865000	Strong transcription	Placenta	Placenta
34	chr19:18859000-18867400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr19:18859200-18863000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:18859600-18865400	Strong transcription	Primary T cells from cord blood	blood
37	chr19:18859800-18864800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr19:18859800-18865200	Strong transcription	Brain Hippocampus Middle	brain
39	chr19:18859800-18865200	Strong transcription	Lung	lung
40	chr19:18859800-18866200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:18859800-18868000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:18859800-18868000	Strong transcription	Fetal Brain Female	brain
43	chr19:18859800-18868200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:18860000-18865400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr19:18860200-18863800	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:18860200-18865200	Strong transcription	Brain Germinal Matrix	brain
47	chr19:18860200-18865600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr19:18860200-18868000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr19:18860200-18868600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr19:18860400-18862800	Strong transcription	Spleen	Spleen

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