Variant report

Variant	rs6511057
Chromosome Location	chr19:20022610-20022611
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:20015522..20017242-chr19:20021366..20023292,2	MCF-7	breast:
2	chr19:20011096..20014012-chr19:20021090..20024486,4	K562	blood:

Variant related genes	Relation type
ENSG00000184635	Chromatin interaction
ENSG00000267268	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10414504	0.84[AMR][1000 genomes]
rs11085281	0.87[AMR][1000 genomes]
rs1599797	0.85[AMR][1000 genomes]
rs60948789	0.87[AMR][1000 genomes]
rs6511060	0.84[AMR][1000 genomes]
rs6511061	0.83[AMR][1000 genomes]
rs7247240	0.84[AMR][1000 genomes]
rs7253941	0.85[AMR][1000 genomes]
rs7254125	0.84[AMR][1000 genomes]
rs7254200	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv519535	chr19:19871250-20595412	Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	nsv961192	chr19:19906394-20083740	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3319016	chr19:19917475-20819154	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
5	esv3319017	chr19:19917475-20819154	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
6	esv3413756	chr19:19936066-20072059	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv3380276	chr19:19936583-20073601	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv3429980	chr19:19943721-20102072	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1061846	chr19:19946927-20595412	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	esv3390957	chr19:19965887-20819154	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
11	nsv869122	chr19:19969851-20595412	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
12	nsv1057569	chr19:19973268-20193556	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv1059158	chr19:19973489-20576161	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
14	esv3407363	chr19:20000919-20059307	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv1056595	chr19:20020626-20061367	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv458376	chr19:20021046-20151257	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv578800	chr19:20021046-20151257	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6511057	ZNF506	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20012600-20030000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:20012800-20034200	Weak transcription	Pancreas	Pancrea
3	chr19:20012800-20034200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr19:20012800-20034600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr19:20012800-20043400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:20013000-20024200	Weak transcription	Ovary	ovary
7	chr19:20013000-20034000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:20013000-20034600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:20013000-20034600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr19:20013000-20035200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr19:20013000-20039600	Weak transcription	Colon Smooth Muscle	Colon
12	chr19:20013200-20026000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:20013200-20026200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr19:20013200-20027400	Weak transcription	HSMMtube	muscle
15	chr19:20013200-20027600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:20013200-20028600	Weak transcription	Adipose Nuclei	Adipose
17	chr19:20013200-20028800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr19:20013200-20034600	Weak transcription	Primary T cells from cord blood	blood
19	chr19:20013200-20043600	Weak transcription	Fetal Brain Male	brain
20	chr19:20013400-20027400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:20013400-20033600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr19:20013400-20034000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:20013400-20034000	Weak transcription	Placenta	Placenta
24	chr19:20013400-20034200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr19:20013400-20035800	Weak transcription	Osteobl	bone
26	chr19:20014000-20028800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:20014000-20032600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr19:20014400-20027600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:20014800-20027000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:20014800-20034000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:20015800-20024400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:20015800-20033400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr19:20016000-20034200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:20016000-20034800	Weak transcription	K562	blood
35	chr19:20016400-20034000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr19:20016600-20033400	Weak transcription	Thymus	Thymus
37	chr19:20016800-20028800	ZNF genes & repeats	Dnd41	blood
38	chr19:20016800-20034000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr19:20017400-20024800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:20018200-20025000	Weak transcription	Fetal Lung	lung
41	chr19:20018200-20025400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr19:20018400-20027400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr19:20018400-20027400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr19:20019200-20022800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
45	chr19:20020000-20026400	Weak transcription	Fetal Stomach	stomach
46	chr19:20020000-20027400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr19:20020200-20026000	Weak transcription	Fetal Intestine Large	intestine
48	chr19:20020200-20027000	Weak transcription	Fetal Thymus	thymus
49	chr19:20020600-20026400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr19:20020800-20023800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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