Variant report

Variant	rs9822349
Chromosome Location	chr3:49719944-49719945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:49719548-49719994	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr3:49719671-49720215	HepG2	liver:	n/a	n/a
3	POLR2A	chr3:49717503-49727239	HepG2	liver:	n/a	n/a
4	POLR2A	chr3:49718009-49720541	HepG2	liver:	n/a	n/a
5	POLR2A	chr3:49719687-49720060	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:49718663-49722661	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:49716580-49724829	HepG2	liver:	n/a	n/a
8	POLR2A	chr3:49718007-49720028	HepG2	liver:	n/a	n/a
9	POLR2A	chr3:49719695-49720072	K562	blood:	n/a	n/a
10	POLR2A	chr3:49716559-49721545	HepG2	liver:	n/a	n/a
11	POLR2A	chr3:49716518-49723590	HepG2	liver:	n/a	n/a
12	POLR2A	chr3:49719834-49719961	H1-hESC	embryonic stem cell:	n/a	n/a
13	HEY1	chr3:49718256-49727412	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49710552..49715225-chr3:49718907..49727364,14	MCF-7	breast:
2	chr3:49719726..49722448-chr3:49723596..49725872,2	K562	blood:
3	chr3:49719547..49721441-chr3:49726309..49728909,2	K562	blood:
4	chr3:49715255..49718446-chr3:49718549..49721372,3	MCF-7	breast:

No data

Variant related genes	Relation type
APEH	TF binding region
ENSG00000173531	Chromatin interaction
ENSG00000164062	Chromatin interaction
ENSG00000164068	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13326722	1.00[AMR][1000 genomes]
rs9843677	1.00[AMR][1000 genomes]
rs9854341	1.00[AMR][1000 genomes]
rs9990421	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508217	chr3:49615446-49769896	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv1825898	chr3:49688948-49764849	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	esv1808511	chr3:49689880-49744825	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr3:49712200-49723800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:49712800-49722200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:49712800-49722200	Strong transcription	Fetal Stomach	stomach
4	chr3:49712800-49723600	Weak transcription	Right Atrium	heart
5	chr3:49712800-49726200	Weak transcription	Small Intestine	intestine
6	chr3:49713000-49721200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:49713000-49721400	Strong transcription	NHEK	skin
8	chr3:49713000-49721600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:49713000-49721600	Strong transcription	Brain Substantia Nigra	brain
10	chr3:49713000-49721600	Strong transcription	NHLF	lung
11	chr3:49713000-49722000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:49713000-49722000	Strong transcription	Stomach Smooth Muscle	stomach
13	chr3:49713000-49722200	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:49713000-49722400	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr3:49713000-49722400	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:49713000-49722600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:49713000-49722800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:49713000-49722800	Strong transcription	Thymus	Thymus
19	chr3:49713000-49723200	Weak transcription	Stomach Mucosa	stomach
20	chr3:49713000-49723400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:49713000-49723800	Weak transcription	Fetal Heart	heart
22	chr3:49713200-49720600	Strong transcription	Osteobl	bone
23	chr3:49713200-49721400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:49713200-49721400	Strong transcription	Colon Smooth Muscle	Colon
25	chr3:49713200-49721400	Strong transcription	Left Ventricle	heart
26	chr3:49713200-49721600	Strong transcription	Rectal Smooth Muscle	rectum
27	chr3:49713200-49721800	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr3:49713200-49721800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr3:49713200-49722000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:49713200-49722000	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr3:49713200-49722000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr3:49713200-49722200	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr3:49713200-49722200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr3:49713200-49722200	Strong transcription	Placenta	Placenta
35	chr3:49713200-49722400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:49713200-49722400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:49713200-49722400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr3:49713200-49722400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:49713200-49722400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr3:49713200-49722600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:49713200-49722600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:49713200-49722600	Strong transcription	Brain Germinal Matrix	brain
43	chr3:49713200-49722800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:49713200-49723000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:49713200-49723000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:49713400-49720200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr3:49713400-49721400	Strong transcription	Aorta	Aorta
48	chr3:49713400-49721400	Strong transcription	Hela-S3	cervix
49	chr3:49713400-49721600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:49713400-49721600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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