Variant report

Variant	rs58614880
Chromosome Location	chr15:40915952-40915953
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	BACH1	chr15:40915718-40916227	K562	blood:	n/a	n/a
2	IRF1	chr15:40915639-40916212	K562	blood:	n/a	n/a
3	GATA1	chr15:40915425-40916653	PBDE	blood:	n/a	n/a
4	POLR2A	chr15:40914065-40917052	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40915820..40918459-chr15:40918962..40920817,2	K562	blood:
2	chr15:40907487..40910390-chr15:40913134..40917272,4	K562	blood:

Variant related genes	Relation type
CASC5	TF binding region
ENSG00000265814	Chromatin interaction
ENSG00000137812	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs45494798	1.00[AMR][1000 genomes]
rs56979580	1.00[AMR][1000 genomes]
rs59154296	1.00[AMR][1000 genomes]
rs59648663	1.00[AMR][1000 genomes]
rs60223077	1.00[AMR][1000 genomes]
rs73384327	1.00[AMR][1000 genomes]
rs73394730	1.00[AMR][1000 genomes]
rs73394786	1.00[AMR][1000 genomes]
rs73396569	1.00[AMR][1000 genomes]
rs73396577	1.00[AMR][1000 genomes]
rs9652438	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1841263	chr15:40902453-40966765	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40887600-40941800	Weak transcription	Fetal Intestine Large	intestine
2	chr15:40887800-40933200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr15:40887800-40942200	Weak transcription	Primary B cells from cord blood	blood
4	chr15:40887800-40948200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:40887800-40961600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr15:40888000-40956000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:40888400-40923200	Weak transcription	Osteobl	bone
8	chr15:40888400-40925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:40888400-40944200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:40890800-40925200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:40893600-40922600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr15:40897800-40957200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:40899400-40922600	Weak transcription	Fetal Intestine Small	intestine
14	chr15:40900000-40943600	Weak transcription	NH-A	brain
15	chr15:40902200-40920400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr15:40903000-40922200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr15:40903000-40956000	Weak transcription	Fetal Heart	heart
18	chr15:40903600-40922600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr15:40903600-40927800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:40903600-40956600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:40903800-40955800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:40903800-40956600	Weak transcription	Fetal Lung	lung
23	chr15:40904800-40927800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:40906400-40930200	Strong transcription	Dnd41	blood
25	chr15:40908600-40917800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:40910200-40925200	Weak transcription	Placenta	Placenta
27	chr15:40911000-40916200	Strong transcription	HSMM	muscle
28	chr15:40911200-40918000	Strong transcription	Fetal Thymus	thymus
29	chr15:40911400-40922200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr15:40911400-40930600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr15:40911800-40917800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr15:40912200-40917800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr15:40912200-40951400	Weak transcription	Fetal Kidney	kidney
34	chr15:40912400-40921800	Weak transcription	Fetal Stomach	stomach
35	chr15:40912600-40922200	Weak transcription	Fetal Muscle Leg	muscle
36	chr15:40912600-40941400	Weak transcription	HepG2	liver
37	chr15:40913400-40918800	Weak transcription	Thymus	Thymus
38	chr15:40913600-40916000	Strong transcription	Fetal Muscle Trunk	muscle
39	chr15:40913800-40986000	Weak transcription	A549	lung
40	chr15:40914000-40921200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr15:40914000-40923400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:40914200-40920600	Weak transcription	NHEK	skin
43	chr15:40914400-40920600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr15:40914400-40960000	Weak transcription	NHLF	lung
45	chr15:40914600-40916200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:40914600-40921400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr15:40914800-40918600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr15:40914800-40920200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:40914800-40920600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr15:40914800-40921000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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