Variant report

Variant	rs62110409
Chromosome Location	chr19:52787051-52787052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52786937..52789326-chr19:52800045..52802285,2	MCF-7	breast:
2	chr19:52786877..52789123-chr19:52793597..52795383,2	K562	blood:
3	chr19:52774375..52777116-chr19:52786827..52789950,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269102	Chromatin interaction
ENSG00000198464	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1048399	1.00[ASN][1000 genomes]
rs55783720	1.00[ASN][1000 genomes]
rs56186790	1.00[ASN][1000 genomes]
rs62109258	1.00[ASN][1000 genomes]
rs62110407	1.00[ASN][1000 genomes]
rs62110410	1.00[ASN][1000 genomes]
rs62110415	1.00[ASN][1000 genomes]
rs62110447	1.00[ASN][1000 genomes]
rs749618	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52774000-52787200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:52774200-52797400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:52774200-52799600	Weak transcription	Hela-S3	cervix
4	chr19:52774400-52787400	Weak transcription	NHDF-Ad	bronchial
5	chr19:52774600-52795800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:52775000-52787400	Weak transcription	HepG2	liver
7	chr19:52777200-52787400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:52777200-52794000	Weak transcription	Psoas Muscle	Psoas
9	chr19:52777400-52787400	Weak transcription	Fetal Brain Male	brain
10	chr19:52777800-52787400	Weak transcription	Stomach Mucosa	stomach
11	chr19:52777800-52787800	Weak transcription	HMEC	breast
12	chr19:52780400-52800000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr19:52781000-52787400	Weak transcription	Colonic Mucosa	Colon
14	chr19:52781600-52793600	Weak transcription	Fetal Heart	heart
15	chr19:52781800-52787200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:52783000-52787600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:52783200-52794800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr19:52783200-52795200	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr19:52783400-52795800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
20	chr19:52784400-52788200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:52784400-52794800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:52784600-52787400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr19:52784600-52791600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
24	chr19:52784600-52792000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr19:52784600-52794000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:52784600-52794600	ZNF genes & repeats	Primary T cells from cord blood	blood
27	chr19:52784600-52795000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
28	chr19:52784600-52795800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr19:52784600-52796000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:52784600-52796400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:52784600-52796800	ZNF genes & repeats	Liver	Liver
32	chr19:52784800-52789800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:52784800-52790000	Strong transcription	Fetal Brain Female	brain
34	chr19:52784800-52790200	ZNF genes & repeats	GM12878-XiMat	blood
35	chr19:52784800-52790800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:52784800-52793400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr19:52784800-52794800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
38	chr19:52784800-52795800	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr19:52784800-52795800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:52784800-52795800	Strong transcription	Dnd41	blood
41	chr19:52785000-52787400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr19:52785000-52787600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:52785000-52793600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr19:52785000-52795400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
45	chr19:52785000-52795800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr19:52785000-52796000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr19:52785200-52789800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr19:52785200-52792000	Strong transcription	Fetal Lung	lung
49	chr19:52785200-52794600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:52785200-52794800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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