Variant report

Variant	rs552967980
Chromosome Location	chr15:75248139-75248140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 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	POLR2A	chr15:75247844-75251217	Hela-S3	cervix:	n/a	n/a
4	MAX	chr15:75248121-75250119	H1-hESC	embryonic stem cell:	n/a	chr15:75249898-75249908
5	MYC	chr15:75247796-75250259	A549	lung:	n/a	chr15:75249898-75249908
6	HCFC1	chr15:75247211-75250421	Hela-S3	cervix:	n/a	n/a
7	SP1	chr15:75247637-75248238	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3AK20	chr15:75248105-75250154	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr15:75246429-75250135	Hela-S3	cervix:	n/a	n/a
10	MAX	chr15:75248071-75250355	A549	lung:	n/a	chr15:75249898-75249908
11	POLR2A	chr15:75246240-75250250	Hela-S3	cervix:	n/a	n/a
12	JUN	chr15:75248067-75249966	K562	blood:	n/a	n/a
13	EP300	chr15:75246176-75250141	SK-N-SH	brain:	n/a	chr15:75246940-75246956 chr15:75246630-75246639
14	USF2	chr15:75246620-75248884	Hela-S3	cervix:	n/a	n/a
15	E2F6	chr15:75247993-75250206	H1-hESC	embryonic stem cell:	n/a	n/a
16	MXI1	chr15:75248084-75248926	H1-hESC	embryonic stem cell:	n/a	n/a
17	BHLHE40	chr15:75248119-75249286	K562	blood:	n/a	n/a

No data

(count:24 , 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	chr15:75076309..75078257-chr15:75245859..75248166,2	K562	blood:
5	chr15:75133947..75135664-chr15:75246136..75249268,3	MCF-7	breast:
6	chr15:74906365..74908963-chr15:75246374..75249056,3	MCF-7	breast:
7	chr15:75155291..75158241-chr15:75246616..75248751,2	K562	blood:
8	chr15:75246590..75249281-chr15:75285572..75288569,4	MCF-7	breast:
9	chr15:75182085..75184679-chr15:75247604..75250598,2	MCF-7	breast:
10	chr15:75229128..75232091-chr15:75246040..75248486,3	MCF-7	breast:
11	chr15:75226664..75233309-chr15:75245862..75252227,16	K562	blood:
12	chr15:75107962..75109830-chr15:75247955..75249471,2	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	chr15:75247875..75248635-chr5:271125..272052,2	Hela-S3	cervix:
17	chr15:75181382..75185367-chr15:75245501..75252189,8	K562	blood:
18	chr15:75074533..75077400-chr15:75247038..75249331,2	MCF-7	breast:
19	chr15:75197370..75200380-chr15:75247025..75249904,3	MCF-7	breast:
20	chr15:75134593..75136676-chr15:75247766..75251919,4	MCF-7	breast:
21	chr15:75197919..75201119-chr15:75247045..75249740,3	K562	blood:
22	chr15:75246342..75249068-chr15:75626976..75630362,3	K562	blood:
23	chr15:75247469..75252493-chr15:75314645..75318771,7	MCF-7	breast:
24	chr15:75117625..75119967-chr15:75247068..75249643,2	K562	blood:

No data

Variant related genes	Relation type
SCAMP5	TF binding region
ENSG00000140474	Chromatin interaction
ENSG00000198824	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000248925	Chromatin interaction
ENSG00000178741	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000140365	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000213578	Chromatin interaction
ENSG00000260483	Chromatin interaction
ENSG00000261606	Chromatin interaction
ENSG00000178761	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000178802	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000249915	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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75243000-75248200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr15:75243000-75248200	Weak transcription	HMEC	breast
3	chr15:75246400-75248200	Enhancers	Fetal Heart	heart
4	chr15:75246400-75248200	Enhancers	Lung	lung
5	chr15:75246400-75248400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:75246400-75249000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:75246600-75248200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr15:75246600-75248200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
9	chr15:75246600-75248200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
10	chr15:75246600-75248400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr15:75246600-75248400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
12	chr15:75246600-75248400	Enhancers	Small Intestine	intestine
13	chr15:75246600-75248600	Enhancers	Primary hematopoietic stem cells	blood
14	chr15:75246600-75248600	Enhancers	Stomach Mucosa	stomach
15	chr15:75246600-75248800	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr15:75246600-75249000	Flanking Active TSS	Colonic Mucosa	Colon
17	chr15:75246800-75248800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr15:75246800-75251000	Active TSS	Ovary	ovary
19	chr15:75246800-75251800	Flanking Active TSS	HUVEC	blood vessel
20	chr15:75247000-75248200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
21	chr15:75247000-75248200	Enhancers	Brain Substantia Nigra	brain
22	chr15:75247000-75248400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr15:75247000-75248800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
24	chr15:75247000-75249600	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr15:75247200-75248200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
26	chr15:75247200-75248200	Enhancers	Esophagus	oesophagus
27	chr15:75247200-75248400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:75247200-75248400	Flanking Bivalent TSS/Enh	Placenta	Placenta
29	chr15:75247200-75248400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
30	chr15:75247200-75248600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
31	chr15:75247200-75249600	Active TSS	Brain Angular Gyrus	brain
32	chr15:75247400-75248200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr15:75247400-75248200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr15:75247400-75248400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:75247400-75248400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr15:75247400-75248400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
37	chr15:75247400-75248400	Enhancers	Primary B cells from cord blood	blood
38	chr15:75247400-75248400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr15:75247400-75248400	Weak transcription	HSMM	muscle
40	chr15:75247400-75249000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr15:75247400-75250000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr15:75247400-75251600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr15:75247600-75248400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:75247600-75248600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
45	chr15:75247600-75249600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr15:75247600-75250400	Active TSS	Hela-S3	cervix
47	chr15:75247600-75251000	Active TSS	Right Atrium	heart
48	chr15:75247600-75252000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr15:75247800-75248200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr15:75247800-75248200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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