Variant report

Variant	rs2295756
Chromosome Location	chr11:35241229-35241230
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	chr11:35239985-35241676	U87	brain:	n/a	n/a
2	POLR2A	chr11:35240062-35242272	U87	brain:	n/a	n/a
3	POLR2A	chr11:35240075-35241574	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:35240224-35242130	GM12891	blood:	n/a	n/a
5	POLR2A	chr11:35240005-35242230	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr11:35235854-35244123	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr11:35240046-35242108	GM12892	blood:	n/a	n/a
8	POLR2A	chr11:35240793-35242166	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:35240192-35242143	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:35220356-35243977	U87	brain:	n/a	n/a
11	POLR2A	chr11:35240832-35242121	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:35237283-35244142	U87	brain:	n/a	n/a
13	POLR2A	chr11:35240937-35241422	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000255443	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10734436	0.93[ASW][hapmap];0.92[CEU][hapmap];0.81[GIH][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.88[TSI][hapmap];0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10742333	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10836342	0.87[AMR][1000 genomes]
rs11033028	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12285721	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12291025	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12291116	0.86[AMR][1000 genomes]
rs7116432	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv541003	chr11:35122694-35261451	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2295756	HIPK3	cis	cerebellum	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35200600-35244800	Weak transcription	Fetal Brain Male	brain
2	chr11:35214600-35250600	Weak transcription	Fetal Intestine Large	intestine
3	chr11:35224000-35241600	Weak transcription	Left Ventricle	heart
4	chr11:35226200-35244800	Weak transcription	Brain Substantia Nigra	brain
5	chr11:35231600-35243600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:35232200-35245400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:35232400-35245600	Genic enhancers	NHDF-Ad	bronchial
8	chr11:35233200-35244400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:35233400-35259600	Weak transcription	Liver	Liver
10	chr11:35234200-35247400	Weak transcription	Fetal Intestine Small	intestine
11	chr11:35234600-35241600	Genic enhancers	NHLF	lung
12	chr11:35235200-35249200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:35235800-35244200	Strong transcription	Fetal Muscle Leg	muscle
14	chr11:35236000-35243000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:35236000-35245200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:35236000-35247600	Strong transcription	Dnd41	blood
17	chr11:35236000-35248000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr11:35236200-35242000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:35236200-35252200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:35236200-35254400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:35236400-35241800	Strong transcription	A549	lung
22	chr11:35236400-35242000	Genic enhancers	Fetal Thymus	thymus
23	chr11:35236400-35253400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:35236400-35253400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr11:35236800-35248400	Strong transcription	Adipose Nuclei	Adipose
26	chr11:35236800-35253200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:35236800-35259600	Weak transcription	Psoas Muscle	Psoas
28	chr11:35237000-35241800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:35237000-35247000	Strong transcription	Hela-S3	cervix
30	chr11:35237000-35253000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:35237000-35254600	Strong transcription	HSMM	muscle
32	chr11:35237000-35259600	Weak transcription	HUVEC	blood vessel
33	chr11:35237400-35241600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:35237600-35243600	Strong transcription	Lung	lung
35	chr11:35238200-35250600	Weak transcription	Stomach Mucosa	stomach
36	chr11:35238400-35248000	Weak transcription	Right Ventricle	heart
37	chr11:35238600-35241400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr11:35238800-35243000	Weak transcription	Gastric	stomach
39	chr11:35238800-35243800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:35238800-35253200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:35239200-35243000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:35239200-35245000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:35239200-35247200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:35239200-35248000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr11:35239200-35248800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:35239200-35249600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:35239200-35253200	Strong transcription	NHEK	skin
48	chr11:35239200-35253600	Strong transcription	HMEC	breast
49	chr11:35239200-35257600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:35239400-35246800	Strong transcription	Primary monocytes fromperipheralblood	blood

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