Variant report

Variant	rs7115790
Chromosome Location	chr11:45941844-45941845
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	POLR2A	chr11:45941604-45942202	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr11:45941776-45941964	HepG2	liver:	n/a	chr11:45941898-45941908
3	POLR2A	chr11:45941627-45942102	HepG2	liver:	n/a	n/a
4	SIN3A	chr11:45941705-45941976	H1-hESC	embryonic stem cell:	n/a	n/a
5	TBP	chr11:45941405-45942053	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:45941670-45942048	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAZ	chr11:45941638-45942003	K562	blood:	n/a	chr11:45941898-45941908
8	GATA3	chr11:45941619-45942008	T-47D	breast:	n/a	n/a
9	HEY1	chr11:45941682-45941890	HepG2	liver:	n/a	n/a
10	TAF1	chr11:45941689-45942011	H1-hESC	embryonic stem cell:	n/a	n/a
11	GATA3	chr11:45941626-45942028	T-47D	breast:	n/a	n/a
12	POLR2A	chr11:45941600-45941969	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:45941305-45942503	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PEX16	TF binding region
GYLTL1B	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10838530	1.00[CEU][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10838531	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs11038706	0.80[ASN][1000 genomes]
rs1132349	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11600112	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2271847	0.88[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2280331	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3802758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109981	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7124323	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7124434	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7925824	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs867813	0.96[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs939108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1798496	chr11:45925495-45948304	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45940400-45942000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:45940400-45942000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:45940400-45942200	Weak transcription	Stomach Mucosa	stomach
4	chr11:45940400-45943000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:45940400-45943400	Weak transcription	Fetal Heart	heart
6	chr11:45940400-45943600	Weak transcription	Lung	lung
7	chr11:45940400-45943800	Weak transcription	Aorta	Aorta
8	chr11:45940600-45942000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr11:45940600-45942000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:45940600-45942000	Enhancers	Esophagus	oesophagus
11	chr11:45940600-45942200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr11:45940600-45942200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr11:45940600-45942200	Enhancers	Adipose Nuclei	Adipose
14	chr11:45940600-45942400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr11:45940600-45942400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:45940600-45942600	Weak transcription	Fetal Lung	lung
17	chr11:45940600-45943000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:45940600-45943000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:45940600-45943000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:45940600-45943200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:45940600-45943200	Weak transcription	Ovary	ovary
22	chr11:45940600-45943400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:45940600-45943400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:45940600-45943400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:45940600-45943400	Weak transcription	HMEC	breast
26	chr11:45940600-45943600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr11:45940600-45943600	Enhancers	Brain Substantia Nigra	brain
28	chr11:45940600-45943600	Enhancers	K562	blood
29	chr11:45940600-45943600	Weak transcription	NHEK	skin
30	chr11:45940800-45942200	Enhancers	Primary T cells fromperipheralblood	blood
31	chr11:45940800-45942400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:45940800-45942600	Weak transcription	Fetal Kidney	kidney
33	chr11:45940800-45943200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:45941000-45942000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:45941000-45942000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr11:45941000-45942200	Weak transcription	Brain Hippocampus Middle	brain
37	chr11:45941000-45942400	Enhancers	Primary hematopoietic stem cells	blood
38	chr11:45941000-45943400	Enhancers	Primary B cells from cord blood	blood
39	chr11:45941000-45943400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr11:45941000-45943400	Weak transcription	Liver	Liver
41	chr11:45941000-45943600	Enhancers	Primary B cells from peripheral blood	blood
42	chr11:45941000-45943600	Weak transcription	Right Ventricle	heart
43	chr11:45941000-45943800	Weak transcription	Right Atrium	heart
44	chr11:45941200-45942800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:45941200-45942800	Weak transcription	Psoas Muscle	Psoas
46	chr11:45941200-45943000	Weak transcription	Gastric	stomach
47	chr11:45941200-45943400	Weak transcription	Left Ventricle	heart
48	chr11:45941200-45943400	Weak transcription	Spleen	Spleen
49	chr11:45941200-45943600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:45941200-45944000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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