Variant report

Variant	rs566342380
Chromosome Location	chr15:75247800-75247801
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr15:75246247-75250049	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr15:75246125-75250279	SK-N-MC	brain:	n/a	n/a
3	CTCF	chr15:75247680-75247830	HBMEC	blood vessel:	n/a	n/a
4	PRDM1	chr15:75247611-75247809	Hela-S3	cervix:	n/a	n/a
5	MYC	chr15:75247796-75250259	A549	lung:	n/a	chr15:75249898-75249908
6	CTCF	chr15:75247720-75247870	HVMF	connective:	n/a	n/a
7	HCFC1	chr15:75247211-75250421	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr15:75247238-75247816	PANC-1	pancreas:	n/a	n/a
9	SP1	chr15:75247637-75248238	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr15:75247660-75247810	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr15:75246429-75250135	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr15:75247660-75247810	HPAF	blood vessel:	n/a	n/a
13	CTCF	chr15:75247720-75248010	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr15:75247760-75247910	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr15:75247680-75247830	HEEpiC	esophagus:	n/a	n/a
16	GATA1	chr15:75246379-75247812	K562	blood:	n/a	chr15:75246980-75247001
17	JUN	chr15:75246395-75247948	K562	blood:	n/a	chr15:75246907-75246915
18	POLR2A	chr15:75246240-75250250	Hela-S3	cervix:	n/a	n/a
19	EP300	chr15:75246176-75250141	SK-N-SH	brain:	n/a	chr15:75246940-75246956 chr15:75246630-75246639
20	USF2	chr15:75246620-75248884	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr15:75247620-75247910	HVMF	connective:	n/a	n/a
22	CTCF	chr15:75247720-75247870	MCF-7	breast:	n/a	n/a
23	CTCF	chr15:75247740-75247890	BE2_C	brain:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75247055..75248613-chr15:75284445..75287146,2	K562	blood:
2	chr13:115079641..115080196-chr15:75247699..75248681,2	Hela-S3	cervix:
3	chr15:75228700..75232954-chr15:75245461..75250546,13	K562	blood:
4	chr15:75245998..75247980-chr15:75288102..75290194,2	MCF-7	breast:
5	chr15:75076309..75078257-chr15:75245859..75248166,2	K562	blood:
6	chr15:75133947..75135664-chr15:75246136..75249268,3	MCF-7	breast:
7	chr15:74906365..74908963-chr15:75246374..75249056,3	MCF-7	breast:
8	chr15:75155291..75158241-chr15:75246616..75248751,2	K562	blood:
9	chr15:75246590..75249281-chr15:75285572..75288569,4	MCF-7	breast:
10	chr15:75182085..75184679-chr15:75247604..75250598,2	MCF-7	breast:
11	chr15:75229128..75232091-chr15:75246040..75248486,3	MCF-7	breast:
12	chr15:75226664..75233309-chr15:75245862..75252227,16	K562	blood:
13	chr15:75246752..75249656-chr15:75313121..75316891,3	K562	blood:
14	chr15:75247632..75249513-chr15:75319371..75321803,2	MCF-7	breast:
15	chr15:75246242..75248692-chr15:75492051..75494718,2	K562	blood:
16	chr15:75181382..75185367-chr15:75245501..75252189,8	K562	blood:
17	chr15:75074533..75077400-chr15:75247038..75249331,2	MCF-7	breast:
18	chr15:75197370..75200380-chr15:75247025..75249904,3	MCF-7	breast:
19	chr15:75134593..75136676-chr15:75247766..75251919,4	MCF-7	breast:
20	chr15:75197919..75201119-chr15:75247045..75249740,3	K562	blood:
21	chr15:75246342..75249068-chr15:75626976..75630362,3	K562	blood:
22	chr15:75247469..75252493-chr15:75314645..75318771,7	MCF-7	breast:
23	chr15:75117625..75119967-chr15:75247068..75249643,2	K562	blood:

No data

Variant related genes	Relation type
SCAMP5	TF binding region
ENSG00000178802	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000260483	Chromatin interaction
ENSG00000178761	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000178741	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000198824	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000140365	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000213578	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv1612	chr15:75247725-75281284	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75242800-75248000	Weak transcription	Liver	Liver
2	chr15:75243000-75247800	Weak transcription	Brain Anterior Caudate	brain
3	chr15:75243000-75248200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr15:75243000-75248200	Weak transcription	HMEC	breast
5	chr15:75243200-75248000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:75246400-75247800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:75246400-75247800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:75246400-75247800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:75246400-75247800	Enhancers	Brain Hippocampus Middle	brain
10	chr15:75246400-75247800	Enhancers	NHDF-Ad	bronchial
11	chr15:75246400-75248000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:75246400-75248000	Enhancers	Gastric	stomach
13	chr15:75246400-75248000	Enhancers	Spleen	Spleen
14	chr15:75246400-75248200	Enhancers	Fetal Heart	heart
15	chr15:75246400-75248200	Enhancers	Lung	lung
16	chr15:75246400-75248400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:75246400-75249000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:75246600-75248000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:75246600-75248000	Enhancers	Pancreas	Pancrea
20	chr15:75246600-75248000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr15:75246600-75248000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr15:75246600-75248000	Enhancers	NH-A	brain
23	chr15:75246600-75248200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr15:75246600-75248200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr15:75246600-75248200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr15:75246600-75248400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr15:75246600-75248400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
28	chr15:75246600-75248400	Enhancers	Small Intestine	intestine
29	chr15:75246600-75248600	Enhancers	Primary hematopoietic stem cells	blood
30	chr15:75246600-75248600	Enhancers	Stomach Mucosa	stomach
31	chr15:75246600-75248800	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr15:75246600-75249000	Flanking Active TSS	Colonic Mucosa	Colon
33	chr15:75246800-75247800	Flanking Active TSS	A549	lung
34	chr15:75246800-75248000	Flanking Active TSS	Fetal Intestine Small	intestine
35	chr15:75246800-75248800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr15:75246800-75251000	Active TSS	Ovary	ovary
37	chr15:75246800-75251800	Flanking Active TSS	HUVEC	blood vessel
38	chr15:75247000-75247800	Active TSS	H9 Cell Line	embryonic stem cell
39	chr15:75247000-75247800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:75247000-75247800	Bivalent Enhancer	Fetal Stomach	stomach
41	chr15:75247000-75247800	Enhancers	GM12878-XiMat	blood
42	chr15:75247000-75248000	Enhancers	Primary T cells from cord blood	blood
43	chr15:75247000-75248000	Bivalent Enhancer	Colon Smooth Muscle	Colon
44	chr15:75247000-75248200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr15:75247000-75248200	Enhancers	Brain Substantia Nigra	brain
46	chr15:75247000-75248400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:75247000-75248800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr15:75247000-75249600	Bivalent/Poised TSS	Fetal Brain Female	brain
49	chr15:75247200-75247800	Active TSS	Fetal Kidney	kidney
50	chr15:75247200-75247800	Bivalent Enhancer	Fetal Muscle Leg	muscle

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