Variant report

Variant	rs73108132
Chromosome Location	chr4:20712448-20712449
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr4:20712419-20713696	SH-SY5Y	brain:	n/a	chr4:20712995-20713007
2	GATA2	chr4:20712443-20713744	SH-SY5Y	brain:	n/a	chr4:20712995-20713007
3	MXI1	chr4:20712397-20714095	SK-N-SH	brain:	n/a	n/a
4	EP300	chr4:20712379-20714145	SK-N-SH	brain:	n/a	chr4:20712381-20712391

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20705332..20707768-chr4:20710083..20712545,3	K562	blood:

Variant related genes	Relation type
PACRGL	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11931907	1.00[AMR][1000 genomes]
rs57032556	1.00[AMR][1000 genomes]
rs59051779	1.00[AMR][1000 genomes]
rs59979250	1.00[AMR][1000 genomes]
rs61013057	1.00[AMR][1000 genomes]
rs61184728	1.00[AMR][1000 genomes]
rs6832227	1.00[AMR][1000 genomes]
rs73101443	1.00[AMR][1000 genomes]
rs73101447	1.00[AMR][1000 genomes]
rs73101462	1.00[AMR][1000 genomes]
rs73101465	1.00[AMR][1000 genomes]
rs73101468	1.00[AMR][1000 genomes]
rs73101469	1.00[AMR][1000 genomes]
rs73106096	1.00[AMR][1000 genomes]
rs73106097	1.00[AMR][1000 genomes]
rs73106099	1.00[AMR][1000 genomes]
rs73108113	1.00[AMR][1000 genomes]
rs73108121	0.80[AFR][1000 genomes];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	nsv1013077	chr4:20599841-20732558	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv829876	chr4:20638736-20835621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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 target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20702400-20722600	Weak transcription	Spleen	Spleen
2	chr4:20702600-20717200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:20703000-20717200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:20703000-20717400	Weak transcription	Fetal Heart	heart
5	chr4:20703000-20721800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:20703000-20722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:20703000-20741400	Weak transcription	Stomach Mucosa	stomach
8	chr4:20703200-20714400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:20703200-20715000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:20703200-20722800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:20703200-20741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr4:20703400-20722800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:20703400-20722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:20703400-20723600	Weak transcription	Pancreas	Pancrea
15	chr4:20703400-20724000	Weak transcription	A549	lung
16	chr4:20703600-20715000	Weak transcription	Ovary	ovary
17	chr4:20703600-20716200	Weak transcription	Hela-S3	cervix
18	chr4:20703600-20717200	Weak transcription	Brain Germinal Matrix	brain
19	chr4:20703800-20714800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:20705000-20718200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:20705400-20718200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:20705600-20715400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:20706000-20715200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:20706000-20715400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:20706000-20717400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:20706200-20712800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:20706200-20713400	Strong transcription	Fetal Lung	lung
28	chr4:20706200-20714000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:20706200-20715200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:20706200-20715400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr4:20706200-20715600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:20706200-20715600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:20706400-20713400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:20706600-20722600	Weak transcription	Gastric	stomach
35	chr4:20706800-20738600	Weak transcription	Psoas Muscle	Psoas
36	chr4:20707200-20714200	Weak transcription	Fetal Brain Male	brain
37	chr4:20707200-20714400	Weak transcription	K562	blood
38	chr4:20707200-20714600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr4:20707200-20714600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr4:20707200-20714800	Weak transcription	Colon Smooth Muscle	Colon
41	chr4:20707200-20716800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:20707200-20717400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr4:20707200-20717400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:20707200-20722800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr4:20707200-20722800	Weak transcription	Thymus	Thymus
46	chr4:20707200-20723200	Weak transcription	Esophagus	oesophagus
47	chr4:20707200-20723400	Weak transcription	Colonic Mucosa	Colon
48	chr4:20707200-20724000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:20707200-20739400	Weak transcription	HepG2	liver
50	chr4:20707400-20714400	Weak transcription	Brain Inferior Temporal Lobe	brain

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