Variant report

Variant	rs367647922
Chromosome Location	chr15:75248600-75248601
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:391)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:75248600-75248750	SK-N-SH_RA	brain:	n/a	n/a
2	PML	chr15:75248585-75249759	MCF-7	breast:	n/a	n/a
3	EGR1	chr15:75248435-75248786	K562	blood:	n/a	n/a
4	CTCF	chr15:75248580-75248730	HBMEC	blood vessel:	n/a	n/a
5	RAD21	chr15:75248536-75248716	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr15:75248456-75249959	Hela-S3	cervix:	n/a	n/a
7	GTF2F1	chr15:75248459-75249310	K562	blood:	n/a	n/a
8	JUND	chr15:75248494-75248834	K562	blood:	n/a	n/a
9	SIX5	chr15:75248508-75248737	K562	blood:	n/a	n/a
10	CTCF	chr15:75248580-75248730	GM12865	blood:	n/a	n/a
11	SMC3	chr15:75248388-75248867	Hela-S3	cervix:	n/a	n/a
12	JUND	chr15:75248503-75249983	A549	lung:	n/a	n/a
13	CTCF	chr15:75248580-75248730	HMEC	breast:	n/a	n/a
14	CTCF	chr15:75248580-75248730	HMF	breast:	n/a	n/a
15	RCOR1	chr15:75248427-75248994	K562	blood:	n/a	n/a
16	POLR2A	chr15:75248586-75249282	GM12892	blood:	n/a	n/a
17	MYC	chr15:75248423-75249695	K562	blood:	n/a	n/a
18	ATF3	chr15:75248500-75248870	GM12878	blood:	n/a	n/a
19	CTCF	chr15:75248564-75248762	H1-hESC	embryonic stem cell:	n/a	n/a
20	YY1	chr15:75248491-75250071	A549	lung:	n/a	n/a
21	CTCF	chr15:75248528-75248830	Spleen_OC	spleen:	n/a	n/a
22	POLR2A	chr15:75248584-75249624	K562	blood:	n/a	n/a
23	CTCF	chr15:75248506-75248833	K562	blood:	n/a	n/a
24	MTA3	chr15:75248346-75248880	GM12878	blood:	n/a	n/a
25	CTCF	chr15:75248535-75248795	GM12892	blood:	n/a	n/a
26	CTCF	chr15:75248580-75248730	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr15:75248580-75248730	K562	blood:	n/a	n/a
28	CTCF	chr15:75248484-75248803	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr15:75248600-75248750	GM12874	blood:	n/a	n/a
30	CTCF	chr15:75248531-75248796	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr15:75248540-75248690	BJ	skin:	n/a	n/a
32	USF1	chr15:75248473-75248954	SK-N-SH	brain:	n/a	n/a
33	HDAC2	chr15:75248286-75248876	K562	blood:	n/a	n/a
34	TCF12	chr15:75248153-75250346	A549	lung:	n/a	n/a
35	CTCF	chr15:75248560-75248710	HFF	foreskin:	n/a	n/a
36	MXI1	chr15:75246247-75250049	SK-N-SH	brain:	n/a	n/a
37	CTCF	chr15:75248560-75248710	AG04449	skin:	n/a	n/a
38	EGR1	chr15:75248437-75248782	K562	blood:	n/a	n/a
39	CHD2	chr15:75248511-75248806	H1-hESC	embryonic stem cell:	n/a	n/a
40	TBP	chr15:75248421-75249952	H1-hESC	embryonic stem cell:	n/a	n/a
41	MYC	chr15:75248408-75249136	K562	blood:	n/a	n/a
42	POLR2A	chr15:75246125-75250279	SK-N-MC	brain:	n/a	n/a
43	POLR2A	chr15:75247844-75251217	Hela-S3	cervix:	n/a	n/a
44	MYC	chr15:75248491-75248798	Hela-S3	cervix:	n/a	n/a
45	MAX	chr15:75248121-75250119	H1-hESC	embryonic stem cell:	n/a	chr15:75249898-75249908
46	CTCF	chr15:75248580-75248730	AG04450	lung:	n/a	n/a
47	MAX	chr15:75248352-75249966	SK-N-SH	brain:	n/a	chr15:75249898-75249908
48	MYC	chr15:75248535-75248901	MCF-7	breast:	n/a	n/a
49	TCF7L2	chr15:75248412-75249102	PANC-1	pancreas:	n/a	n/a
50	HDAC2	chr15:75248249-75249993	MCF-7	breast:	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	chr15:75248574..75249256-chr7:2394272..2394802,2	Hela-S3	cervix:
10	chr15:75182085..75184679-chr15:75247604..75250598,2	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
ENSG00000138621	Chromatin interaction
ENSG00000178761	Chromatin interaction
ENSG00000178802	Chromatin interaction
ENSG00000248925	Chromatin interaction
ENSG00000198824	Chromatin interaction
ENSG00000178741	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000249915	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000213578	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000140365	Chromatin interaction
ENSG00000106263	Chromatin interaction
ENSG00000203875	Chromatin interaction
ENSG00000260483	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000261606	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:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75246400-75249000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr15:75246600-75248600	Enhancers	Primary hematopoietic stem cells	blood
3	chr15:75246600-75248600	Enhancers	Stomach Mucosa	stomach
4	chr15:75246600-75248800	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr15:75246600-75249000	Flanking Active TSS	Colonic Mucosa	Colon
6	chr15:75246800-75248800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr15:75246800-75251000	Active TSS	Ovary	ovary
8	chr15:75246800-75251800	Flanking Active TSS	HUVEC	blood vessel
9	chr15:75247000-75248800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
10	chr15:75247000-75249600	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr15:75247200-75248600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chr15:75247200-75249600	Active TSS	Brain Angular Gyrus	brain
13	chr15:75247400-75249000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr15:75247400-75250000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr15:75247400-75251600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr15:75247600-75248600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
17	chr15:75247600-75249600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:75247600-75250400	Active TSS	Hela-S3	cervix
19	chr15:75247600-75251000	Active TSS	Right Atrium	heart
20	chr15:75247600-75252000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr15:75247800-75248600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:75247800-75248600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr15:75247800-75248600	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr15:75247800-75248600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
25	chr15:75247800-75248800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
26	chr15:75247800-75249000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:75247800-75249600	Flanking Active TSS	GM12878-XiMat	blood
28	chr15:75247800-75249800	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr15:75247800-75251800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr15:75247800-75252400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr15:75248000-75248600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:75248000-75248600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:75248000-75248600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr15:75248000-75248600	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
35	chr15:75248000-75248600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
36	chr15:75248000-75248600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr15:75248000-75248600	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr15:75248000-75248600	Flanking Active TSS	K562	blood
39	chr15:75248000-75248600	Flanking Active TSS	NH-A	brain
40	chr15:75248000-75248800	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr15:75248000-75248800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr15:75248000-75248800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr15:75248000-75248800	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr15:75248000-75248800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr15:75248000-75248800	Flanking Active TSS	Left Ventricle	heart
46	chr15:75248000-75249000	Flanking Active TSS	Pancreas	Pancrea
47	chr15:75248000-75249200	Flanking Active TSS	Right Ventricle	heart
48	chr15:75248000-75249200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr15:75248000-75249600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:75248000-75249800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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