Variant report

Variant	rs552430878
Chromosome Location	chr3:133970444-133970445
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:133968923-133970541	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:133969851..133972992-chr3:133976680..133979913,3	K562	blood:
2	chr3:133967562..133971327-chr3:134067822..134072418,4	MCF-7	breast:
3	chr3:133969328..133972317-chr3:134030794..134032589,3	MCF-7	breast:
4	chr3:133970115..133972265-chr3:133986843..133989271,2	MCF-7	breast:
5	chr3:133969854..133971498-chr3:134203715..134206373,2	K562	blood:
6	chr3:133969506..133971460-chr3:134202147..134204798,2	K562	blood:

No data

Variant related genes	Relation type
RYK	TF binding region
ENSG00000182923	Chromatin interaction
ENSG00000240006	Chromatin interaction
ENSG00000260633	Chromatin interaction
ENSG00000214289	Chromatin interaction
ENSG00000129055	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv1794616	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	esv1798974	chr3:133949713-133973731	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv1802675	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv1815799	chr3:133949713-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	esv1819695	chr3:133949713-133973731	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	esv1822126	chr3:133949713-133973731	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	esv1839030	chr3:133949713-133973731	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	esv1799165	chr3:133959746-133973731	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	esv1803106	chr3:133959746-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
12	esv3406249	chr3:133968537-133970760	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
13	esv1792549	chr3:133969361-133973731	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
14	esv1798144	chr3:133969361-133973731	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
15	esv1838610	chr3:133969361-133973731	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
16	esv1842254	chr3:133969361-133973731	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133968000-133970800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr3:133968200-133970600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:133968200-133970800	Active TSS	Right Ventricle	heart
4	chr3:133968400-133970800	Active TSS	NH-A	brain
5	chr3:133968600-133970600	Active TSS	Fetal Lung	lung
6	chr3:133969000-133970600	Weak transcription	Fetal Heart	heart
7	chr3:133969200-133970600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:133970000-133970600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:133970000-133970600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:133970000-133970600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:133970000-133970600	Weak transcription	Esophagus	oesophagus
12	chr3:133970000-133970800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:133970000-133972400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:133970200-133970600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr3:133970200-133970600	Enhancers	Primary B cells from cord blood	blood
16	chr3:133970200-133970600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:133970200-133970600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:133970200-133970600	Active TSS	Adipose Nuclei	Adipose
19	chr3:133970200-133970600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr3:133970200-133970600	Enhancers	Thymus	Thymus
21	chr3:133970200-133970600	Weak transcription	Hela-S3	cervix
22	chr3:133970200-133970800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:133970200-133970800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:133970200-133970800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:133970200-133970800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:133970200-133970800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:133970200-133970800	Enhancers	Primary B cells from peripheral blood	blood
28	chr3:133970200-133970800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:133970200-133970800	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr3:133970200-133970800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:133970200-133970800	Weak transcription	Lung	lung
32	chr3:133970200-133970800	Enhancers	Right Atrium	heart
33	chr3:133970200-133971000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr3:133970200-133971000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr3:133970200-133971000	Weak transcription	Liver	Liver
36	chr3:133970200-133971000	Enhancers	Spleen	Spleen
37	chr3:133970200-133971000	Enhancers	Dnd41	blood
38	chr3:133970200-133971200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr3:133970200-133971200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:133970200-133971200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:133970200-133971400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:133970200-133971400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:133970200-133971400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:133970200-133971400	Enhancers	NHDF-Ad	bronchial
45	chr3:133970200-133971400	Enhancers	NHEK	skin
46	chr3:133970200-133971400	Enhancers	NHLF	lung
47	chr3:133970200-133971400	Enhancers	Osteobl	bone
48	chr3:133970200-133971600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:133970200-133971600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:133970200-133971600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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