Variant report

Variant	rs71356816
Chromosome Location	chr19:39121016-39121017
allele	A/G
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	chr19:39114094-39125094	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr19:39119344-39121063	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39106830..39111691-chr19:39117375..39123240,7	MCF-7	breast:
2	chr19:39108453..39110454-chr19:39120039..39121758,2	MCF-7	breast:

Variant related genes	Relation type
EIF3K	TF binding region
ENSG00000104814	Chromatin interaction
ENSG00000178982	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12981194	1.00[AFR][1000 genomes]
rs12984295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34653447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62121765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[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	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833826	chr19:38945106-39184547	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv833827	chr19:38993054-39184547	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv1057901	chr19:39112486-39174332	Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
7	nsv911667	chr19:39119898-39143289	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 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	chr19:39110400-39122600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:39111000-39121600	Strong transcription	Fetal Intestine Large	intestine
3	chr19:39111000-39122600	Strong transcription	Fetal Intestine Small	intestine
4	chr19:39111000-39124000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr19:39111000-39124400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr19:39111000-39124600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr19:39111000-39125000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:39111000-39127000	Strong transcription	Thymus	Thymus
9	chr19:39111000-39127400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr19:39111000-39128800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr19:39111200-39121400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:39111200-39121400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:39111200-39121600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:39111200-39121600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:39111200-39121600	Strong transcription	Right Ventricle	heart
16	chr19:39111200-39121800	Strong transcription	Brain Cingulate Gyrus	brain
17	chr19:39111200-39121800	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr19:39111200-39122200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr19:39111200-39122400	Strong transcription	Colonic Mucosa	Colon
20	chr19:39111200-39123600	Strong transcription	Osteobl	bone
21	chr19:39111200-39123800	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr19:39111200-39123800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr19:39111200-39123800	Strong transcription	Primary T cells from cord blood	blood
24	chr19:39111200-39124000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:39111200-39124000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:39111200-39124000	Strong transcription	Liver	Liver
27	chr19:39111200-39124000	Strong transcription	Brain Angular Gyrus	brain
28	chr19:39111200-39124000	Strong transcription	Placenta	Placenta
29	chr19:39111200-39124000	Strong transcription	Fetal Thymus	thymus
30	chr19:39111200-39124000	Strong transcription	Left Ventricle	heart
31	chr19:39111200-39124000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr19:39111200-39124200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:39111200-39124200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr19:39111200-39124200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:39111200-39124200	Strong transcription	Brain Germinal Matrix	brain
36	chr19:39111200-39124200	Strong transcription	Fetal Brain Female	brain
37	chr19:39111200-39124200	Strong transcription	Lung	lung
38	chr19:39111200-39124400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:39111200-39124400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:39111200-39124400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr19:39111200-39124400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:39111200-39124400	Strong transcription	Adipose Nuclei	Adipose
43	chr19:39111200-39124400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr19:39111200-39124600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:39111200-39125000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:39111200-39125000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr19:39111200-39125000	Strong transcription	Fetal Muscle Leg	muscle
48	chr19:39111200-39125200	Weak transcription	Fetal Heart	heart
49	chr19:39111200-39125400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr19:39111200-39126600	Strong transcription	Sigmoid Colon	Sigmoid Colon

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