Variant report

Variant	rs377390980
Chromosome Location	chr15:75248392-75248393
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr15:75248388-75248867	Hela-S3	cervix:	n/a	n/a
2	MTA3	chr15:75248346-75248880	GM12878	blood:	n/a	n/a
3	HDAC2	chr15:75248286-75248876	K562	blood:	n/a	n/a
4	TCF12	chr15:75248153-75250346	A549	lung:	n/a	n/a
5	MXI1	chr15:75246247-75250049	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr15:75246125-75250279	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr15:75247844-75251217	Hela-S3	cervix:	n/a	n/a
8	MAX	chr15:75248121-75250119	H1-hESC	embryonic stem cell:	n/a	chr15:75249898-75249908
9	MAX	chr15:75248352-75249966	SK-N-SH	brain:	n/a	chr15:75249898-75249908
10	HDAC2	chr15:75248249-75249993	MCF-7	breast:	n/a	n/a
11	CREB1	chr15:75248332-75249202	H1-hESC	embryonic stem cell:	n/a	n/a
12	ELF1	chr15:75248391-75249320	K562	blood:	n/a	n/a
13	ZKSCAN1	chr15:75248204-75249831	Hela-S3	cervix:	n/a	n/a
14	SETDB1	chr15:75248223-75249066	K562	blood:	n/a	n/a
15	MXI1	chr15:75248367-75249983	Hela-S3	cervix:	n/a	n/a
16	MYC	chr15:75247796-75250259	A549	lung:	n/a	chr15:75249898-75249908
17	E2F6	chr15:75248159-75250193	A549	lung:	n/a	n/a
18	E2F6	chr15:75248302-75250101	A549	lung:	n/a	n/a
19	MAX	chr15:75248219-75250226	A549	lung:	n/a	chr15:75249898-75249908
20	E2F6	chr15:75248163-75249974	K562	blood:	n/a	n/a
21	POLR2A	chr15:75248320-75249855	HUVEC	blood vessel:	n/a	n/a
22	HCFC1	chr15:75247211-75250421	Hela-S3	cervix:	n/a	n/a
23	GABPA	chr15:75248383-75248930	K562	blood:	n/a	n/a
24	CTCF	chr15:75248287-75251407	A549	lung:	n/a	chr15:75251113-75251122
25	POLR2A	chr15:75248156-75250281	Hela-S3	cervix:	n/a	n/a
26	MYC	chr15:75248380-75249406	K562	blood:	n/a	n/a
27	UBTF	chr15:75248281-75249652	K562	blood:	n/a	n/a
28	BRCA1	chr15:75248359-75248795	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr15:75248375-75249816	MCF-7	breast:	n/a	n/a
30	CTCF	chr15:75248380-75248530	GM12870	blood:	n/a	n/a
31	MAX	chr15:75248328-75249136	GM12878	blood:	n/a	n/a
32	MAX	chr15:75248269-75249964	Hela-S3	cervix:	n/a	chr15:75249898-75249908
33	CTCF	chr15:75248300-75248450	GM12878	blood:	n/a	n/a
34	CTCF	chr15:75248294-75248875	MCF-7	breast:	n/a	n/a
35	RCOR1	chr15:75248361-75249963	Hela-S3	cervix:	n/a	n/a
36	SIN3AK20	chr15:75248105-75250154	PANC-1	pancreas:	n/a	n/a
37	RCOR1	chr15:75248335-75249625	K562	blood:	n/a	n/a
38	POLR2A	chr15:75248333-75248806	K562	blood:	n/a	n/a
39	RFX5	chr15:75248365-75250045	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr15:75248285-75250109	PANC-1	pancreas:	n/a	n/a
41	ZNF263	chr15:75248189-75249976	HEK293-T-REx	kidney:	n/a	n/a
42	ELF1	chr15:75248183-75250118	GM12878	blood:	n/a	n/a
43	TCF7L2	chr15:75248374-75249902	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr15:75246429-75250135	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr15:75248365-75249027	K562	blood:	n/a	n/a
46	GATA3	chr15:75248292-75249917	A549	lung:	n/a	n/a
47	ETS1	chr15:75248337-75249039	K562	blood:	n/a	n/a
48	MXI1	chr15:75248361-75248961	IMR90	lung:	n/a	n/a
49	POLR2A	chr15:75248328-75250071	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr15:75248335-75249809	K562	blood:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75247055..75248613-chr15:75284445..75287146,2	K562	blood:
2	chr15:75248197..75251380-chr15:75494107..75498676,4	MCF-7	breast:
3	chr13:115079641..115080196-chr15:75247699..75248681,2	Hela-S3	cervix:
4	chr15:75228700..75232954-chr15:75245461..75250546,13	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	chr15:75248174..75249163-chr6:86388387..86389171,2	Hela-S3	cervix:
23	chr15:75246342..75249068-chr15:75626976..75630362,3	K562	blood:
24	chr15:75247469..75252493-chr15:75314645..75318771,7	MCF-7	breast:
25	chr15:75117625..75119967-chr15:75247068..75249643,2	K562	blood:

No data

Variant related genes	Relation type
SCAMP5	TF binding region
ENSG00000179335	Chromatin interaction
ENSG00000178741	Chromatin interaction
ENSG00000261606	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000198824	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000213578	Chromatin interaction
ENSG00000140365	Chromatin interaction
ENSG00000178761	Chromatin interaction
ENSG00000203875	Chromatin interaction
ENSG00000260483	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000178802	Chromatin interaction
ENSG00000248925	Chromatin interaction
ENSG00000249915	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000103653	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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75246400-75248400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:75246400-75249000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:75246600-75248400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr15:75246600-75248400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
5	chr15:75246600-75248400	Enhancers	Small Intestine	intestine
6	chr15:75246600-75248600	Enhancers	Primary hematopoietic stem cells	blood
7	chr15:75246600-75248600	Enhancers	Stomach Mucosa	stomach
8	chr15:75246600-75248800	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr15:75246600-75249000	Flanking Active TSS	Colonic Mucosa	Colon
10	chr15:75246800-75248800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr15:75246800-75251000	Active TSS	Ovary	ovary
12	chr15:75246800-75251800	Flanking Active TSS	HUVEC	blood vessel
13	chr15:75247000-75248400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:75247000-75248800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr15:75247000-75249600	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chr15:75247200-75248400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:75247200-75248400	Flanking Bivalent TSS/Enh	Placenta	Placenta
18	chr15:75247200-75248400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
19	chr15:75247200-75248600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr15:75247200-75249600	Active TSS	Brain Angular Gyrus	brain
21	chr15:75247400-75248400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:75247400-75248400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr15:75247400-75248400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr15:75247400-75248400	Enhancers	Primary B cells from cord blood	blood
25	chr15:75247400-75248400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr15:75247400-75248400	Weak transcription	HSMM	muscle
27	chr15:75247400-75249000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr15:75247400-75250000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr15:75247400-75251600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr15:75247600-75248400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:75247600-75248600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
32	chr15:75247600-75249600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:75247600-75250400	Active TSS	Hela-S3	cervix
34	chr15:75247600-75251000	Active TSS	Right Atrium	heart
35	chr15:75247600-75252000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr15:75247800-75248400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
37	chr15:75247800-75248400	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr15:75247800-75248400	Bivalent/Poised TSS	Fetal Kidney	kidney
39	chr15:75247800-75248400	Flanking Active TSS	NHDF-Ad	bronchial
40	chr15:75247800-75248600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:75247800-75248600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr15:75247800-75248600	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr15:75247800-75248600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chr15:75247800-75248800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr15:75247800-75249000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:75247800-75249600	Flanking Active TSS	GM12878-XiMat	blood
47	chr15:75247800-75249800	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr15:75247800-75251800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr15:75247800-75252400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr15:75248000-75248400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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