Variant report

Variant	rs62004866
Chromosome Location	chr15:74223118-74223119
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	chr15:74222663-74224052	U87	brain:	n/a	n/a
2	MXI1	chr15:74222581-74223792	IMR90	lung:	n/a	n/a
3	MAX	chr15:74222636-74223813	SK-N-SH	brain:	n/a	chr15:74223489-74223499 chr15:74223004-74223015
4	POLR2A	chr15:74222663-74224098	U87	brain:	n/a	n/a
5	MAZ	chr15:74222222-74223838	IMR90	lung:	n/a	chr15:74223489-74223499 chr15:74223004-74223015
6	MAX	chr15:74222591-74223835	SK-N-SH	brain:	n/a	chr15:74223489-74223499 chr15:74223004-74223015
7	TCF12	chr15:74222494-74223967	SK-N-SH	brain:	n/a	chr15:74222656-74222666
8	NFIC	chr15:74222554-74223832	SK-N-SH	brain:	n/a	n/a
9	FOSL2	chr15:74222598-74223793	SK-N-SH	brain:	n/a	chr15:74223495-74223507 chr15:74223496-74223507 chr15:74223626-74223635 chr15:74223497-74223505 chr15:74223498-74223509
10	POLR2A	chr15:74217872-74240199	U87	brain:	n/a	n/a
11	POLR2A	chr15:74215819-74242527	U87	brain:	n/a	n/a
12	EP300	chr15:74222559-74223828	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74222260..74224149-chr15:74225339..74227538,2	K562	blood:
2	chr15:74221858..74224522-chr15:74243431..74247187,3	MCF-7	breast:

Variant related genes	Relation type
LOXL1-AS1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12914489	0.81[EUR][1000 genomes]
rs35364449	1.00[AFR][1000 genomes]
rs62004865	0.83[EUR][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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74220400-74223400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
2	chr15:74220400-74223400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:74220600-74223400	Enhancers	Placenta	Placenta
4	chr15:74220800-74223200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:74220800-74223200	Enhancers	Right Ventricle	heart
6	chr15:74220800-74223400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr15:74220800-74224200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr15:74220800-74224800	Weak transcription	Hela-S3	cervix
9	chr15:74220800-74226000	Weak transcription	Pancreas	Pancrea
10	chr15:74220800-74226200	Weak transcription	Lung	lung
11	chr15:74220800-74228000	Weak transcription	Fetal Kidney	kidney
12	chr15:74220800-74228400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr15:74221000-74223600	Enhancers	Brain Germinal Matrix	brain
14	chr15:74221000-74223800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr15:74221000-74224200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:74221200-74223200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:74221200-74223200	Flanking Active TSS	NH-A	brain
18	chr15:74221200-74223200	Flanking Active TSS	NHDF-Ad	bronchial
19	chr15:74221200-74223800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:74221400-74223200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:74221400-74223400	Transcr. at gene 5' and 3'	HSMM	muscle
22	chr15:74221600-74223400	Transcr. at gene 5' and 3'	NHLF	lung
23	chr15:74221600-74223800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:74221600-74224200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:74221600-74224800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr15:74221600-74228800	Weak transcription	Aorta	Aorta
27	chr15:74221800-74223600	Genic enhancers	Fetal Stomach	stomach
28	chr15:74221800-74223800	Enhancers	Fetal Muscle Leg	muscle
29	chr15:74221800-74223800	Weak transcription	Spleen	Spleen
30	chr15:74221800-74226800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:74221800-74227200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr15:74221800-74227400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:74221800-74227600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr15:74221800-74227800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr15:74221800-74231800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:74222000-74223200	Enhancers	Colon Smooth Muscle	Colon
37	chr15:74222000-74223800	Enhancers	Fetal Lung	lung
38	chr15:74222000-74224200	Genic enhancers	Fetal Muscle Trunk	muscle
39	chr15:74222000-74224800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:74222000-74225800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr15:74222000-74231400	Weak transcription	Left Ventricle	heart
42	chr15:74222200-74223200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr15:74222200-74223200	Enhancers	Esophagus	oesophagus
44	chr15:74222200-74223200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr15:74222200-74223200	Enhancers	HMEC	breast
46	chr15:74222200-74223200	Enhancers	NHEK	skin
47	chr15:74222200-74223400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:74222200-74225200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr15:74222200-74225800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:74222200-74226600	Weak transcription	Gastric	stomach

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