Variant report

Variant	rs12982808
Chromosome Location	chr19:40334486-40334487
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:40334472-40334520	K562	blood:	n/a	n/a
2	CTCF	chr19:40334420-40334570	HEEpiC	esophagus:	n/a	n/a
3	CTCF	chr19:40334460-40334610	HFF-Myc	foreskin:	n/a	n/a
4	CTCF	chr19:40334451-40335056	A549	lung:	n/a	n/a
5	POLR2A	chr19:40306432-40338982	PANC-1	pancreas:	n/a	n/a
6	CTCF	chr19:40334454-40334545	HUVEC	blood vessel:	n/a	n/a
7	SIN3AK20	chr19:40332892-40340524	PANC-1	pancreas:	n/a	n/a
8	WRNIP1	chr19:40334426-40336849	GM12878	blood:	n/a	n/a
9	IRF1	chr19:40334443-40334939	K562	blood:	n/a	chr19:40334699-40334712 chr19:40334697-40334711 chr19:40334699-40334713
10	CTCF	chr19:40334289-40338535	A549	lung:	n/a	chr19:40336774-40336782 chr19:40336634-40336647
11	SIN3AK20	chr19:40334304-40340581	PANC-1	pancreas:	n/a	n/a
12	STAT3	chr19:40334480-40334839	GM12878	blood:	n/a	chr19:40334551-40334563 chr19:40334700-40334711
13	RAD21	chr19:40334435-40335077	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr19:40334460-40334610	HBMEC	blood vessel:	n/a	n/a
15	RAD21	chr19:40334397-40335103	A549	lung:	n/a	n/a
16	CTCF	chr19:40334400-40334550	K562	blood:	n/a	n/a
17	CTCF	chr19:40334404-40335148	SK-N-SH	brain:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40282440..40284866-chr19:40332192..40334772,3	K562	blood:
2	chr19:40332447..40334758-chr19:40335345..40337570,4	MCF-7	breast:
3	chr19:40327506..40332289-chr19:40333216..40337866,9	MCF-7	breast:
4	chr19:40321340..40326326-chr19:40333108..40338214,12	MCF-7	breast:
5	chr19:40283432..40284233-chr19:40334291..40335341,3	MCF-7	breast:
6	chr19:40255355..40257924-chr19:40332588..40334816,2	MCF-7	breast:
7	chr19:40283298..40284231-chr19:40334333..40335337,5	MCF-7	breast:
8	chr19:40245446..40248757-chr19:40332343..40336010,3	MCF-7	breast:
9	chr19:40256350..40257493-chr19:40334257..40335289,4	MCF-7	breast:
10	chr19:40333922..40335627-chr19:40352940..40355252,2	K562	blood:
11	chr19:40332530..40335412-chr19:40475463..40477228,2	MCF-7	breast:
12	chr19:40163210..40165073-chr19:40333318..40334922,2	MCF-7	breast:

No data

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

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

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

rs_ID	r²[population]
rs10425638	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12975624	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12975641	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12982833	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803298	0.86[ASN][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	chr19:40325400-40334800	Weak transcription	Fetal Brain Male	brain
3	chr19:40329600-40335200	Weak transcription	Fetal Kidney	kidney
4	chr19:40329800-40335800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:40330000-40334800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:40330400-40334800	Weak transcription	NH-A	brain
7	chr19:40330800-40334800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr19:40330800-40334800	Weak transcription	Brain Angular Gyrus	brain
9	chr19:40330800-40335200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:40330800-40335600	Weak transcription	Esophagus	oesophagus
11	chr19:40331000-40334800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:40331000-40334800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:40331000-40334800	Weak transcription	Gastric	stomach
14	chr19:40331000-40334800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr19:40331000-40334800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr19:40331000-40335000	Weak transcription	Brain Anterior Caudate	brain
17	chr19:40331000-40335200	Weak transcription	Brain Hippocampus Middle	brain
18	chr19:40331000-40335400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:40331200-40334800	Weak transcription	Brain Germinal Matrix	brain
20	chr19:40331200-40334800	Weak transcription	Brain Substantia Nigra	brain
21	chr19:40331200-40335000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:40331400-40334800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr19:40331400-40335200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:40331400-40335600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr19:40331400-40335600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr19:40331400-40335600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr19:40331400-40335800	Weak transcription	Colonic Mucosa	Colon
28	chr19:40331600-40334800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr19:40331600-40335200	Weak transcription	Fetal Brain Female	brain
30	chr19:40332000-40334800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:40332200-40334800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr19:40332200-40334800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:40332200-40335400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:40332200-40335600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:40332200-40336000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr19:40332200-40336000	Enhancers	Liver	Liver
37	chr19:40332400-40334600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:40332400-40336000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr19:40332600-40334800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr19:40332600-40334800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr19:40332600-40335400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:40332600-40335600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr19:40333000-40335200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr19:40333000-40335600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr19:40333000-40335600	Enhancers	Duodenum Mucosa	Duodenum
46	chr19:40333000-40335800	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr19:40333000-40336200	Enhancers	Placenta	Placenta
48	chr19:40333200-40334800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr19:40333200-40334800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr19:40333200-40334800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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