Variant report

Variant	rs36094979
Chromosome Location	chr19:40332765-40332766
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:40306432-40338982	PANC-1	pancreas:	n/a	n/a
2	ZNF384	chr19:40332249-40332902	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40330455..40332873-chr19:40336316..40338752,3	MCF-7	breast:
2	chr19:40029767..40032366-chr19:40330875..40333585,2	K562	blood:
3	chr19:40282440..40284866-chr19:40332192..40334772,3	K562	blood:
4	chr19:40283625..40284290-chr19:40332717..40333386,3	MCF-7	breast:
5	chr19:40332447..40334758-chr19:40335345..40337570,4	MCF-7	breast:
6	chr19:40255355..40257924-chr19:40332588..40334816,2	MCF-7	breast:
7	chr19:40245446..40248757-chr19:40332343..40336010,3	MCF-7	breast:
8	chr19:40323585..40327109-chr19:40328017..40332842,7	MCF-7	breast:
9	chr19:40332530..40335412-chr19:40475463..40477228,2	MCF-7	breast:
10	chr19:40323873..40328898-chr19:40330848..40333267,4	MCF-7	breast:

No data

Variant related genes	Relation type
FBL	TF binding region
ENSG00000013275	Chromatin interaction
ENSG00000105202	Chromatin interaction
ENSG00000105204	Chromatin interaction
ENSG00000176396	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16973645	1.00[AMR][1000 genomes]
rs56897306	1.00[AMR][1000 genomes]
rs57756764	1.00[AMR][1000 genomes]
rs57910061	1.00[AMR][1000 genomes]
rs73554465	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv911696	chr19:40310497-40344648	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv9725	chr19:40315519-40412523	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers 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 miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40324800-40336000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:40325200-40333000	Weak transcription	Right Atrium	heart
3	chr19:40325400-40332800	Strong transcription	Hela-S3	cervix
4	chr19:40325400-40333200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr19:40325400-40333200	Weak transcription	Stomach Mucosa	stomach
6	chr19:40325400-40333800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:40325400-40334800	Weak transcription	Fetal Brain Male	brain
8	chr19:40325600-40333000	Weak transcription	Fetal Heart	heart
9	chr19:40329000-40333200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:40329400-40333400	Weak transcription	Small Intestine	intestine
11	chr19:40329600-40335200	Weak transcription	Fetal Kidney	kidney
12	chr19:40329800-40335800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr19:40330000-40334800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr19:40330200-40333200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr19:40330400-40333000	Weak transcription	HSMM	muscle
16	chr19:40330400-40333400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:40330400-40334800	Weak transcription	NH-A	brain
18	chr19:40330600-40333000	Weak transcription	HSMMtube	muscle
19	chr19:40330600-40333600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:40330800-40333200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr19:40330800-40333400	Weak transcription	Psoas Muscle	Psoas
22	chr19:40330800-40334800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr19:40330800-40334800	Weak transcription	Brain Angular Gyrus	brain
24	chr19:40330800-40335200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:40330800-40335600	Weak transcription	Esophagus	oesophagus
26	chr19:40331000-40333000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr19:40331000-40333000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:40331000-40333000	Weak transcription	Placenta	Placenta
29	chr19:40331000-40333000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr19:40331000-40333200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:40331000-40333200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:40331000-40333200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr19:40331000-40333200	Weak transcription	Colon Smooth Muscle	Colon
34	chr19:40331000-40333200	Weak transcription	HUVEC	blood vessel
35	chr19:40331000-40333400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:40331000-40333400	Weak transcription	Left Ventricle	heart
37	chr19:40331000-40333400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr19:40331000-40334400	Weak transcription	Primary B cells from cord blood	blood
39	chr19:40331000-40334800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:40331000-40334800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:40331000-40334800	Weak transcription	Gastric	stomach
42	chr19:40331000-40334800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr19:40331000-40334800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr19:40331000-40335000	Weak transcription	Brain Anterior Caudate	brain
45	chr19:40331000-40335200	Weak transcription	Brain Hippocampus Middle	brain
46	chr19:40331000-40335400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr19:40331200-40333000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:40331200-40333000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:40331200-40333200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr19:40331200-40333400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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