Variant report

Variant	rs8111199
Chromosome Location	chr19:52670338-52670339
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:52670300-52670500	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52669032..52671197-chr19:52671891..52674474,2	MCF-7	breast:
2	chr19:52667110..52671353-chr19:52691931..52695004,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267927	TF binding region
ENSG00000105568	Chromatin interaction
ENSG00000196267	Chromatin interaction
ENSG00000267927	Chromatin interaction

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

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

rs_ID	r²[population]
rs11666474	0.95[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35715660	0.97[EUR][1000 genomes]
rs919268	1.00[CEU][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv580007	chr19:52660279-52693277	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1059417	chr19:52662380-52703801	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv2760529	chr19:52662380-52703813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic 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	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52653800-52670600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr19:52654400-52671600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:52659400-52671800	Strong transcription	Placenta Amnion	Placenta Amnion
4	chr19:52661600-52672200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr19:52662000-52671600	Strong transcription	Brain Angular Gyrus	brain
6	chr19:52662000-52672200	Strong transcription	Skeletal Muscle Male	skeletal muscle
7	chr19:52663000-52670800	Weak transcription	Fetal Heart	heart
8	chr19:52663000-52672800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr19:52663000-52673000	Strong transcription	Adipose Nuclei	Adipose
10	chr19:52663200-52672200	Strong transcription	Ovary	ovary
11	chr19:52663200-52673400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:52663200-52673400	Weak transcription	Small Intestine	intestine
13	chr19:52663200-52673400	Weak transcription	HUVEC	blood vessel
14	chr19:52663600-52673600	Weak transcription	Psoas Muscle	Psoas
15	chr19:52663800-52672200	Strong transcription	Brain Germinal Matrix	brain
16	chr19:52664000-52671000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:52664000-52672200	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr19:52664600-52672200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr19:52664800-52670800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr19:52664800-52671000	Weak transcription	NHLF	lung
21	chr19:52665000-52672400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:52665200-52672600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr19:52665200-52673200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr19:52665400-52672600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr19:52665600-52671000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr19:52665600-52671600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
27	chr19:52665600-52672200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:52665600-52672200	Strong transcription	Fetal Muscle Leg	muscle
29	chr19:52665800-52671600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
30	chr19:52665800-52672400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:52665800-52672600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:52666400-52670800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr19:52666400-52670800	Strong transcription	Fetal Thymus	thymus
34	chr19:52666400-52672400	Strong transcription	Dnd41	blood
35	chr19:52666400-52672600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr19:52666400-52672800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:52666400-52673400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:52666600-52673000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:52667000-52671800	Strong transcription	Fetal Brain Female	brain
40	chr19:52667000-52672600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:52667000-52672800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr19:52667200-52670600	Weak transcription	HMEC	breast
43	chr19:52667200-52670800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr19:52667200-52672200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr19:52667200-52672800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:52667200-52673000	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr19:52667200-52673400	Weak transcription	Right Ventricle	heart
48	chr19:52667200-52673400	Weak transcription	Stomach Mucosa	stomach
49	chr19:52667600-52670600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr19:52667600-52673400	Weak transcription	Placenta	Placenta

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