Variant report

Variant	rs67559383
Chromosome Location	chr15:78369325-78369326
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr15:78369219-78370343	Hela-S3	cervix:	n/a	n/a
2	MTA3	chr15:78369191-78369742	GM12878	blood:	n/a	n/a
3	MAX	chr15:78369285-78370337	ECC-1	luminal epithelium:	n/a	n/a
4	RCOR1	chr15:78369228-78370233	K562	blood:	n/a	n/a
5	STAT5A	chr15:78369308-78369817	GM12878	blood:	n/a	chr15:78369505-78369517
6	UBTF	chr15:78369279-78370299	K562	blood:	n/a	n/a
7	CREB1	chr15:78369301-78370353	HepG2	liver:	n/a	n/a
8	PML	chr15:78369314-78369844	GM12878	blood:	n/a	n/a
9	CTCF	chr15:78369300-78369570	GM12873	blood:	n/a	n/a
10	MYC	chr15:78369286-78370407	NB4	blood:	n/a	n/a
11	REST	chr15:78369191-78370221	H1-neurons	neurons:	n/a	chr15:78370190-78370200
12	RAD21	chr15:78369101-78370167	IMR90	lung:	n/a	chr15:78369272-78369285
13	RUNX3	chr15:78369268-78370270	GM12878	blood:	n/a	n/a
14	MXI1	chr15:78369036-78370665	IMR90	lung:	n/a	n/a
15	HCFC1	chr15:78368897-78370952	Hela-S3	cervix:	n/a	n/a
16	MAX	chr15:78369279-78370349	MCF-7	breast:	n/a	n/a
17	CHD1	chr15:78369281-78369855	GM12878	blood:	n/a	chr15:78369618-78369628 chr15:78369529-78369539
18	MAZ	chr15:78368980-78371018	IMR90	lung:	n/a	n/a
19	UBTF	chr15:78369301-78370081	K562	blood:	n/a	n/a
20	MXI1	chr15:78369126-78370149	GM12878	blood:	n/a	n/a
21	GATA2	chr15:78369266-78369556	SH-SY5Y	brain:	n/a	n/a
22	HA-E2F1	chr15:78369240-78370272	MCF-7	breast:	n/a	n/a
23	POLR2A	chr15:78369242-78370221	Raji	blood:	n/a	n/a
24	MAX	chr15:78369067-78370373	A549	lung:	n/a	n/a
25	POLR2A	chr15:78369232-78370176	Hela-S3	cervix:	n/a	n/a
26	WRNIP1	chr15:78369217-78369462	GM12878	blood:	n/a	n/a
27	POLR2A	chr15:78369307-78370254	GM18505	blood:	n/a	n/a
28	POLR2A	chr15:78369274-78370241	GM12892	blood:	n/a	n/a
29	SMC3	chr15:78369291-78369799	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr15:78367712-78370170	IMR90	lung:	n/a	n/a
31	CCNT2	chr15:78369261-78370242	K562	blood:	n/a	n/a
32	SIN3AK20	chr15:78369123-78370335	PANC-1	pancreas:	n/a	n/a
33	SMARCB1	chr15:78369196-78370269	Hela-S3	cervix:	n/a	chr15:78370119-78370128
34	YY1	chr15:78369250-78369736	GM12892	blood:	n/a	chr15:78369551-78369570
35	ELF1	chr15:78369174-78369918	GM12878	blood:	n/a	chr15:78369595-78369604
36	MAFK	chr15:78369287-78369763	Hela-S3	cervix:	n/a	n/a
37	BACH1	chr15:78369315-78369721	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr15:78369158-78370269	HL-60	blood:	n/a	n/a
39	POLR2A	chr15:78369285-78370259	HepG2	liver:	n/a	n/a
40	POLR2A	chr15:78369173-78370324	NB4	blood:	n/a	n/a
41	KAP1	chr15:78369146-78369637	HEK293	kidney:	n/a	n/a
42	POLR2A	chr15:78369186-78370302	HUVEC	blood vessel:	n/a	n/a
43	MAX	chr15:78369204-78370330	A549	lung:	n/a	n/a
44	POLR2A	chr15:78369244-78369857	HL-60	blood:	n/a	n/a
45	MAX	chr15:78369287-78370311	NB4	blood:	n/a	n/a
46	MAX	chr15:78369193-78370255	Hela-S3	cervix:	n/a	n/a
47	ZNF143	chr15:78369314-78370460	GM12878	blood:	n/a	chr15:78370110-78370128 chr15:78370105-78370124 chr15:78370119-78370128 chr15:78370117-78370126
48	ZNF263	chr15:78367875-78369900	HEK293-T-REx	kidney:	n/a	chr15:78369466-78369475 chr15:78368347-78368368 chr15:78369547-78369556
49	E2F6	chr15:78369279-78370049	A549	lung:	n/a	n/a
50	RCOR1	chr15:78369126-78370180	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:78369302-78369352	A549	lung:	n/a
2	chr15:78369302-78369352	ovcar-3	ovarian:	n/a
3	chr15:78369302-78369352	Hela-S3	cervix:	n/a
4	chr15:78369302-78369352	GM06990	blood:	n/a
5	chr15:78369302-78369352	Jurkat	blood:	n/a
6	chr15:78369302-78369352	BE2_C	brain:	n/a
7	chr15:78369302-78369352	HCT-116	colon:	n/a
8	chr15:78369302-78369352	AG09319	gingival:	n/a
9	chr15:78369302-78369352	HepG2	liver:	n/a
10	chr15:78369302-78369352	AG04450	lung:	fetal
11	chr15:78369302-78369352	Caco-2	colon:	n/a
12	chr15:78369302-78369352	PrEC	prostate:	n/a
13	chr15:78369302-78369352	Hepatocyte	liver:	n/a
14	chr15:78369302-78369352	SAEC	small airway:	n/a
15	chr15:78369302-78369352	NHDF-neo	bronchial:	n/a
16	chr15:78369302-78369352	PFSK-1	brain:	n/a
17	chr15:78369302-78369352	MCF-7	breast:	n/a
18	chr15:78369302-78369352	RPTEC	kidney:	n/a
19	chr15:78369302-78369352	HRCEpiC	kidney:	n/a
20	chr15:78369302-78369352	GM12878	blood:	n/a
21	chr15:78369302-78369352	AG10803	skin:	n/a
22	chr15:78369302-78369352	HAEpiC	amniotic membrane:	n/a
23	chr15:78369302-78369352	SK-N-MC	brain:	n/a
24	chr15:78369302-78369352	NB4	blood:	n/a
25	chr15:78369302-78369352	CMK	blood:	n/a
26	chr15:78369302-78369352	GM19239	blood:	n/a
27	chr15:78369302-78369352	HCM	heart:	n/a
28	chr15:78369302-78369352	NT2-D1	testis:	n/a
29	chr15:78369302-78369352	MCF10A-Er-Src	breast:	n/a
30	chr15:78369302-78369352	HRPEpiC	eye:	n/a
31	chr15:78369302-78369352	HEK293	kidney:	embryo
32	chr15:78369302-78369352	GM12892	blood:	n/a
33	chr15:78369302-78369352	HUVEC	blood vessel:	n/a
34	chr15:78369302-78369352	ProgFib	skin:	n/a
35	chr15:78369302-78369352	HMEC	breast:	n/a
36	chr15:78369302-78369352	HL-60	blood:	n/a
37	chr15:78369302-78369352	T-47D	breast:	n/a
38	chr15:78369302-78369352	AG09309	skin:	n/a
39	chr15:78369302-78369352	HCPEpiC	choroid plexus:	n/a
40	chr15:78369302-78369352	HCF	heart:	n/a
41	chr15:78369302-78369352	ECC-1	luminal epithelium:	n/a
42	chr15:78369302-78369352	AG04449	skin:	fetal
43	chr15:78369302-78369352	LNCaP	prostate:	n/a
44	chr15:78369302-78369352	SKMC	muscle:	n/a
45	chr15:78369302-78369352	BJ	skin:	n/a
46	chr15:78369302-78369352	HEEpiC	esophagus:	n/a
47	chr15:78369302-78369352	AoSMC	blood vessel:	n/a
48	chr15:78369302-78369352	U87	brain:	n/a
49	chr15:78369302-78369352	NHBE	bronchial:	n/a
50	chr15:78369302-78369352	K562	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:78367037..78369598-chr15:78400476..78402359,2	MCF-7	breast:
2	chr15:78357782..78360184-chr15:78367009..78369493,4	MCF-7	breast:
3	chr15:78362996..78365897-chr15:78366671..78369435,4	MCF-7	breast:
4	chr15:78357496..78359399-chr15:78368822..78370574,2	MCF-7	breast:

No data

Variant related genes	Relation type
SH2D7	TF binding region
SH2D7	CpG island
ENSG00000167202	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11852768	0.88[AFR][1000 genomes]
rs12442213	0.94[ASN][1000 genomes]
rs12901812	0.87[AFR][1000 genomes]
rs12916362	0.86[AFR][1000 genomes]
rs4886995	0.94[ASN][1000 genomes]
rs4887000	0.88[AFR][1000 genomes]
rs7166819	0.88[AFR][1000 genomes]
rs7176425	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78366800-78369600	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr15:78367600-78370400	Active TSS	Ovary	ovary
3	chr15:78367800-78369400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:78367800-78369400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr15:78367800-78369400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr15:78367800-78369400	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr15:78367800-78369400	Flanking Active TSS	Fetal Muscle Leg	muscle
8	chr15:78367800-78369400	Flanking Active TSS	NH-A	brain
9	chr15:78367800-78369400	Flanking Active TSS	Osteobl	bone
10	chr15:78367800-78369600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:78367800-78369600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:78367800-78369600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:78367800-78369600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr15:78367800-78369600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
15	chr15:78367800-78369600	Flanking Active TSS	Hela-S3	cervix
16	chr15:78367800-78369600	Flanking Active TSS	HUVEC	blood vessel
17	chr15:78367800-78369600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr15:78367800-78370400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr15:78367800-78370600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr15:78367800-78370600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:78368000-78369400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr15:78368000-78369400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr15:78368000-78369400	Flanking Active TSS	Colonic Mucosa	Colon
24	chr15:78368000-78369400	Flanking Active TSS	Fetal Lung	lung
25	chr15:78368000-78369400	Flanking Active TSS	Fetal Stomach	stomach
26	chr15:78368000-78369600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr15:78368000-78369600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr15:78368000-78369600	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr15:78368000-78370400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:78368000-78370400	Active TSS	Gastric	stomach
31	chr15:78368000-78370600	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr15:78368000-78370600	Active TSS	Psoas Muscle	Psoas
33	chr15:78368200-78369600	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr15:78368200-78369800	Transcr. at gene 5' and 3'	Dnd41	blood
35	chr15:78368200-78370400	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr15:78368200-78370400	Active TSS	Right Ventricle	heart
37	chr15:78368200-78370600	Active TSS	Aorta	Aorta
38	chr15:78368200-78370600	Active TSS	Fetal Kidney	kidney
39	chr15:78368400-78369600	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr15:78368400-78369600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr15:78368400-78369600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:78368400-78369800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr15:78368400-78370400	Active TSS	Right Atrium	heart
44	chr15:78368600-78370200	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr15:78368600-78370400	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr15:78368600-78370400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
47	chr15:78368600-78370400	Active TSS	HSMMtube	muscle
48	chr15:78368600-78370600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:78368600-78370600	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr15:78368800-78369400	Active TSS	Brain Germinal Matrix	brain

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