Variant report

Variant	rs1440101
Chromosome Location	chr15:74224631-74224632
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	chr15:74224399-74224737	U87	brain:	n/a	n/a
2	POLR2A	chr15:74224381-74224752	U87	brain:	n/a	n/a
3	POLR2A	chr15:74217872-74240199	U87	brain:	n/a	n/a
4	POLR2A	chr15:74215819-74242527	U87	brain:	n/a	n/a

Variant related genes	Relation type
LOXL1-AS1	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12594324	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12594472	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1440102	0.81[YRI][hapmap]
rs1550439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16958494	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304721	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.98[ASN][1000 genomes]
rs28603291	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41435250	0.85[ASN][1000 genomes]
rs58490364	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73446383	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs893815	0.85[YRI][hapmap];0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043335	chr15:74078689-74241186	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1603	chr15:74191222-74235733	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74220800-74224800	Weak transcription	Hela-S3	cervix
2	chr15:74220800-74226000	Weak transcription	Pancreas	Pancrea
3	chr15:74220800-74226200	Weak transcription	Lung	lung
4	chr15:74220800-74228000	Weak transcription	Fetal Kidney	kidney
5	chr15:74220800-74228400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr15:74221600-74224800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr15:74221600-74228800	Weak transcription	Aorta	Aorta
8	chr15:74221800-74226800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:74221800-74227200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr15:74221800-74227400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:74221800-74227600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:74221800-74227800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:74221800-74231800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:74222000-74224800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr15:74222000-74225800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:74222000-74231400	Weak transcription	Left Ventricle	heart
17	chr15:74222200-74225200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr15:74222200-74225800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr15:74222200-74226600	Weak transcription	Gastric	stomach
20	chr15:74222200-74226600	Weak transcription	Thymus	Thymus
21	chr15:74222400-74227200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:74222400-74228000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr15:74222400-74233200	Weak transcription	Fetal Thymus	thymus
24	chr15:74222600-74243200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr15:74222800-74225000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:74222800-74227400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:74222800-74228400	Weak transcription	Fetal Heart	heart
28	chr15:74223000-74226600	Weak transcription	Right Atrium	heart
29	chr15:74223000-74227400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:74223200-74225000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:74223200-74225200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:74223200-74226200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr15:74223200-74226400	Weak transcription	Stomach Mucosa	stomach
34	chr15:74223200-74226600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr15:74223200-74226800	Weak transcription	NHEK	skin
36	chr15:74223200-74227200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:74223200-74227400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:74223200-74227400	Weak transcription	HMEC	breast
39	chr15:74223200-74227800	Weak transcription	Colon Smooth Muscle	Colon
40	chr15:74223200-74228000	Weak transcription	Right Ventricle	heart
41	chr15:74223200-74228400	Weak transcription	Esophagus	oesophagus
42	chr15:74223400-74225000	Genic enhancers	HSMM	muscle
43	chr15:74223400-74226600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:74223400-74227200	Weak transcription	Placenta	Placenta
45	chr15:74223400-74227400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr15:74223400-74228000	Weak transcription	Ovary	ovary
47	chr15:74223400-74230400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:74223600-74227200	Strong transcription	Fetal Stomach	stomach
49	chr15:74223800-74224800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:74223800-74224800	Enhancers	NH-A	brain

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