Variant report

Variant	rs17038045
Chromosome Location	chr4:160263487-160263488
allele	A/G
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	POLR2A	chr4:160263228-160265007	K562	blood:	n/a	n/a
2	E2F4	chr4:160263480-160263583	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr4:160263487-160263519	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RAPGEF2	TF binding region

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

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

rs_ID	r²[population]
rs11934846	0.83[EUR][1000 genomes]
rs35898385	0.83[EUR][1000 genomes]
rs3805139	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58477353	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830129	chr4:160061694-160270760	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1022771	chr4:160188801-160324683	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160226200-160270600	Weak transcription	Small Intestine	intestine
2	chr4:160230200-160263800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:160230200-160270800	Weak transcription	A549	lung
4	chr4:160232200-160274600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:160233800-160264000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:160235200-160266200	Weak transcription	Spleen	Spleen
7	chr4:160237000-160279400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:160237000-160284400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:160237400-160266200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:160237400-160274600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:160238600-160263800	Weak transcription	Fetal Stomach	stomach
12	chr4:160238600-160263800	Weak transcription	Lung	lung
13	chr4:160238600-160282200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:160241000-160281600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:160249600-160274000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:160250000-160283400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:160250000-160284400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:160250400-160285200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:160250800-160284600	Strong transcription	Liver	Liver
20	chr4:160255800-160266200	Weak transcription	Psoas Muscle	Psoas
21	chr4:160257000-160267800	Weak transcription	Fetal Intestine Small	intestine
22	chr4:160258000-160264200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr4:160258000-160283200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr4:160258600-160276000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr4:160258800-160269800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:160259000-160279200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:160259000-160279200	Strong transcription	Adipose Nuclei	Adipose
28	chr4:160259000-160282800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:160259000-160282800	Strong transcription	Placenta	Placenta
30	chr4:160259200-160267800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:160259200-160268200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:160259200-160269400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:160259200-160272800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr4:160259200-160279200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:160259200-160283000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:160259400-160265200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr4:160259400-160265200	Strong transcription	Dnd41	blood
38	chr4:160259400-160265600	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:160259400-160268400	Strong transcription	Primary hematopoietic stem cells	blood
40	chr4:160259400-160268600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr4:160259400-160270000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr4:160259400-160270000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr4:160259400-160270200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr4:160259400-160270800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:160259400-160270800	Strong transcription	HSMM	muscle
46	chr4:160259400-160277600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:160259400-160278600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:160259400-160283000	Strong transcription	Fetal Intestine Large	intestine
49	chr4:160259600-160266800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr4:160259600-160268200	Strong transcription	HUES48 Cell Line	embryonic stem cell

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