Variant report

Variant	rs6511101
Chromosome Location	chr19:20595910-20595911
allele	C/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	chr19:20594606-20597911	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ZNF826P	TF binding region
ENSG00000268174	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs28786234	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6511103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248879	0.85[AMR][1000 genomes]
rs7255197	0.85[AMR][1000 genomes]
rs73541493	0.83[AFR][1000 genomes]
rs8107658	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv911325	chr19:20151257-21071548	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
5	nsv911332	chr19:20574295-20819154	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
6	nsv911333	chr19:20574295-20819154	ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
7	esv2758489	chr19:20574295-20845947	Strong transcription Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	esv2758749	chr19:20574295-20845947	ZNF genes & repeats Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv530804	chr19:20574295-21001349	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
10	nsv458390	chr19:20576399-20819154	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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 miRNA	10 gene(s)	inside rSNPs	diseases
11	nsv458391	chr19:20576399-20819154	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
12	nsv578819	chr19:20576399-20819154	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers 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 miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20593800-20596200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:20593800-20605200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr19:20594000-20596200	Weak transcription	Dnd41	blood
4	chr19:20594200-20602600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:20594400-20596600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr19:20594600-20596200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr19:20594800-20596200	Weak transcription	Ovary	ovary
8	chr19:20594800-20605600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:20594800-20605600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr19:20595200-20597000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr19:20595200-20597400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr19:20595200-20598200	Weak transcription	Adipose Nuclei	Adipose
13	chr19:20595200-20599200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:20595200-20600200	Weak transcription	Thymus	Thymus
15	chr19:20595200-20602400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:20595200-20602800	Weak transcription	Fetal Brain Female	brain
17	chr19:20595200-20605000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:20595200-20605600	Weak transcription	Fetal Stomach	stomach
19	chr19:20595400-20596800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:20595400-20596800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:20595400-20597400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:20595400-20602400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:20595400-20603800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr19:20595400-20605400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:20595600-20596600	Weak transcription	Primary B cells from cord blood	blood
26	chr19:20595600-20596800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:20595600-20598800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:20595600-20600400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr19:20595600-20603400	Weak transcription	Fetal Muscle Leg	muscle
30	chr19:20595600-20605800	Weak transcription	Fetal Intestine Large	intestine
31	chr19:20595800-20596800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:20595800-20597000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr19:20595800-20599200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr19:20595800-20599800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:20595800-20600400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr19:20595800-20605400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:20595800-20605600	Weak transcription	Brain Germinal Matrix	brain

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