Variant report

Variant	rs2039426
Chromosome Location	chr9:71353552-71353553
allele	C/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	USF1	chr9:71353343-71353658	K562	blood:	n/a	n/a

Variant related genes	Relation type
PIP5K1B	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10119614	0.87[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs10217316	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10735624	0.88[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs10746919	0.82[AMR][1000 genomes]
rs10781117	0.84[AMR][1000 genomes]
rs10781142	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10869225	0.81[AMR][1000 genomes]
rs2151415	0.83[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs2184116	0.88[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs2184117	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3945288	0.87[ASN][1000 genomes]
rs4744685	0.81[EUR][1000 genomes]
rs4745230	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4745232	0.87[JPT][hapmap]
rs7021661	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7026347	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7040168	0.83[ASN][1000 genomes]
rs7048356	0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs963707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026962	chr9:71130848-71357605	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv2757339	chr9:71291107-71353743	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2759693	chr9:71291107-71353743	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv893415	chr9:71347988-71364351	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71342600-71354600	Enhancers	Fetal Intestine Large	intestine
2	chr9:71343400-71363000	Weak transcription	GM12878-XiMat	blood
3	chr9:71343800-71357200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr9:71344600-71354000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr9:71347200-71354600	Weak transcription	K562	blood
6	chr9:71347400-71357800	Weak transcription	Primary B cells from cord blood	blood
7	chr9:71348000-71354400	Weak transcription	Pancreas	Pancrea
8	chr9:71348200-71359000	Weak transcription	Lung	lung
9	chr9:71348400-71354600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:71349400-71353600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr9:71350000-71356600	Weak transcription	Aorta	Aorta
12	chr9:71350400-71354600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr9:71351000-71353800	Weak transcription	Left Ventricle	heart
14	chr9:71351000-71354400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr9:71351000-71354600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:71351000-71354600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:71351000-71370600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr9:71351200-71354600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:71351200-71354600	Weak transcription	Right Ventricle	heart
20	chr9:71351200-71355800	Enhancers	Fetal Intestine Small	intestine
21	chr9:71351200-71360000	Weak transcription	Gastric	stomach
22	chr9:71351600-71353600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:71351600-71353600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr9:71352400-71365800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:71352600-71354600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr9:71353000-71354600	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr9:71353000-71355000	Enhancers	Stomach Mucosa	stomach
28	chr9:71353200-71355000	Enhancers	Fetal Heart	heart
29	chr9:71353400-71353600	Enhancers	Psoas Muscle	Psoas
30	chr9:71353400-71353800	Enhancers	Colonic Mucosa	Colon
31	chr9:71353400-71354000	Enhancers	Small Intestine	intestine
32	chr9:71353400-71354400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:71353400-71354400	Enhancers	Duodenum Mucosa	Duodenum
34	chr9:71353400-71354600	Enhancers	HepG2	liver
35	chr9:71353400-71355200	Enhancers	Right Atrium	heart
36	chr9:71353400-71356600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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