Variant report

Variant	rs559069442
Chromosome Location	chr3:160285167-160285168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:160280707-160285191	MCF10A-Er-Src	breast:	n/a	n/a
2	RFX5	chr3:160284848-160285394	Hela-S3	cervix:	n/a	n/a
3	HCFC1	chr3:160282724-160285339	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr3:160279108-160285420	IMR90	lung:	n/a	n/a
5	POLR2A	chr3:160282077-160285177	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:160165891..160168986-chr3:160283501..160286413,4	K562	blood:
2	chr3:160117430..160119957-chr3:160282536..160285548,3	K562	blood:
3	chr3:160283940..160285450-chr3:160615573..160617691,2	MCF-7	breast:
4	chr3:160165801..160167391-chr3:160284829..160286413,2	K562	blood:
5	chr3:160282107..160285570-chr3:161087865..161089951,3	MCF-7	breast:

No data

Variant related genes	Relation type
KRT8P12	TF binding region
KPNA4	TF binding region
ENSG00000068885	Chromatin interaction
ENSG00000213186	Chromatin interaction
ENSG00000113810	Chromatin interaction
ENSG00000196542	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
3	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	nsv1008519	chr3:160038710-160292589	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
5	nsv877702	chr3:160262803-160304614	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
6	nsv4089	chr3:160284848-160330024	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160281200-160285200	Active TSS	Psoas Muscle	Psoas
2	chr3:160281400-160285200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:160281400-160285600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:160281600-160285200	Active TSS	NHLF	lung
5	chr3:160282000-160285200	Active TSS	K562	blood
6	chr3:160282000-160285400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr3:160282000-160285400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:160283600-160285200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:160284000-160285600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:160284000-160285600	Weak transcription	Spleen	Spleen
11	chr3:160284200-160285200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:160284200-160285200	Flanking Active TSS	Hela-S3	cervix
13	chr3:160284200-160285200	Flanking Active TSS	Osteobl	bone
14	chr3:160284200-160285600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:160284200-160285600	Weak transcription	Lung	lung
16	chr3:160284200-160285800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:160284200-160285800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:160284200-160285800	Weak transcription	Esophagus	oesophagus
19	chr3:160284200-160285800	Weak transcription	Gastric	stomach
20	chr3:160284200-160286200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:160284200-160286400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:160284200-160289600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:160284400-160285200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:160284400-160285200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:160284400-160285200	Flanking Active TSS	HUVEC	blood vessel
26	chr3:160284400-160285400	Flanking Active TSS	NH-A	brain
27	chr3:160284400-160286200	Weak transcription	Pancreas	Pancrea
28	chr3:160284400-160286600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr3:160284400-160286800	Weak transcription	Fetal Thymus	thymus
30	chr3:160284600-160285200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr3:160284600-160285400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:160284600-160285600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:160284600-160285600	Weak transcription	Placenta	Placenta
34	chr3:160284600-160285800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr3:160284600-160286200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr3:160284600-160286200	Weak transcription	Left Ventricle	heart
37	chr3:160284600-160286400	Weak transcription	Aorta	Aorta
38	chr3:160284600-160286400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr3:160284600-160286800	Weak transcription	Thymus	Thymus
40	chr3:160284600-160287000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:160284600-160288400	Weak transcription	Ovary	ovary
42	chr3:160284800-160285200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:160284800-160285200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:160284800-160285200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:160284800-160285200	Enhancers	Colon Smooth Muscle	Colon
46	chr3:160284800-160285200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr3:160284800-160285200	Enhancers	Fetal Intestine Small	intestine
48	chr3:160284800-160285200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr3:160284800-160285200	Enhancers	Rectal Smooth Muscle	rectum
50	chr3:160284800-160285200	Enhancers	HepG2	liver

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