Variant report

Variant	rs547067649
Chromosome Location	chr15:83776318-83776319
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:83775593-83776724	H1-neurons	neurons:	n/a	n/a
2	ZNF263	chr15:83775492-83776486	HEK293-T-REx	kidney:	n/a	n/a
3	CTCF	chr15:83775989-83776376	GM12878	blood:	n/a	chr15:83776087-83776096 chr15:83776165-83776178
4	CCNT2	chr15:83775901-83776854	K562	blood:	n/a	n/a
5	POLR2A	chr15:83776085-83776554	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:83776200-83776605	HUVEC	blood vessel:	n/a	n/a
7	HMGN3	chr15:83775866-83777666	K562	blood:	n/a	n/a
8	ZBTB7A	chr15:83775783-83777007	ECC-1	luminal epithelium:	n/a	chr15:83776354-83776363
9	ZBTB7A	chr15:83775963-83776815	K562	blood:	n/a	chr15:83776354-83776363
10	POLR2A	chr15:83776111-83776509	K562	blood:	n/a	n/a
11	POLR2A	chr15:83775922-83778028	HUVEC	blood vessel:	n/a	n/a
12	MAX	chr15:83775793-83776562	ECC-1	luminal epithelium:	n/a	chr15:83776309-83776318
13	MAX	chr15:83775633-83776630	A549	lung:	n/a	chr15:83776309-83776318
14	MAX	chr15:83775749-83776640	K562	blood:	n/a	chr15:83776309-83776318
15	POLR2A	chr15:83775789-83777882	HUVEC	blood vessel:	n/a	n/a
16	YY1	chr15:83775964-83776518	K562	blood:	n/a	chr15:83776131-83776145 chr15:83776125-83776139 chr15:83776358-83776372 chr15:83776130-83776139 chr15:83776363-83776372 chr15:83776077-83776091
17	POLR2A	chr15:83776052-83776473	PBDE	blood:	n/a	n/a
18	POLR2A	chr15:83775933-83777770	HUVEC	blood vessel:	n/a	n/a
19	ZBTB7A	chr15:83775963-83776696	K562	blood:	n/a	chr15:83776354-83776363
20	ZBTB7A	chr15:83775847-83776944	ECC-1	luminal epithelium:	n/a	chr15:83776354-83776363
21	MYC	chr15:83775548-83776369	K562	blood:	n/a	chr15:83776309-83776318
22	POLR2A	chr15:83775906-83776531	GM12878	blood:	n/a	n/a
23	CTCF	chr15:83776220-83776370	GM12871	blood:	n/a	n/a
24	GABPA	chr15:83775676-83776680	K562	blood:	n/a	chr15:83776355-83776364 chr15:83776361-83776370 chr15:83776317-83776326 chr15:83776268-83776277
25	E2F6	chr15:83775884-83776567	K562	blood:	n/a	chr15:83776355-83776364 chr15:83776361-83776371 chr15:83776082-83776091 chr15:83776317-83776326 chr15:83776262-83776276 chr15:83776421-83776431
26	EBF1	chr15:83776011-83776492	GM12878	blood:	n/a	n/a
27	MYC	chr15:83775636-83776612	K562	blood:	n/a	chr15:83776309-83776318
28	CTCF	chr15:83775938-83776335	K562	blood:	n/a	chr15:83776087-83776096 chr15:83776165-83776178
29	E2F6	chr15:83775978-83776583	K562	blood:	n/a	chr15:83776355-83776364 chr15:83776361-83776371 chr15:83776082-83776091 chr15:83776317-83776326 chr15:83776262-83776276 chr15:83776421-83776431
30	GABPA	chr15:83775605-83776450	H1-hESC	embryonic stem cell:	n/a	chr15:83776355-83776364 chr15:83776361-83776370 chr15:83776317-83776326 chr15:83776268-83776277
31	POLR2A	chr15:83775657-83776454	K562	blood:	n/a	n/a
32	MAX	chr15:83775694-83776685	K562	blood:	n/a	chr15:83776309-83776318
33	POLR2A	chr15:83775985-83776593	GM15510	blood:	n/a	n/a
34	TBL1XR1	chr15:83776273-83776441	K562	blood:	n/a	n/a
35	TCF3	chr15:83775973-83776553	GM12878	blood:	n/a	chr15:83776094-83776104 chr15:83776096-83776109
36	MAZ	chr15:83775659-83776536	K562	blood:	n/a	chr15:83776309-83776318
37	MYC	chr15:83776047-83776543	NB4	blood:	n/a	chr15:83776309-83776318
38	CTBP2	chr15:83776018-83776785	H1-hESC	embryonic stem cell:	n/a	n/a
39	PAX5	chr15:83775907-83776446	GM12892	blood:	n/a	chr15:83776078-83776087 chr15:83776359-83776368
40	POLR2A	chr15:83775875-83776608	K562	blood:	n/a	n/a
41	MAX	chr15:83776061-83776500	NB4	blood:	n/a	chr15:83776309-83776318
42	RCOR1	chr15:83775505-83776504	K562	blood:	n/a	n/a
43	HEY1	chr15:83776001-83776580	K562	blood:	n/a	chr15:83776137-83776152 chr15:83776356-83776371 chr15:83776321-83776336 chr15:83776416-83776431
44	HCFC1	chr15:83775767-83776321	K562	blood:	n/a	n/a
45	CTCF	chr15:83776027-83776455	GM12892	blood:	n/a	chr15:83776087-83776096 chr15:83776371-83776384 chr15:83776165-83776178
46	CTCF	chr15:83776025-83776423	GM12891	blood:	n/a	chr15:83776087-83776096 chr15:83776371-83776384 chr15:83776165-83776178
47	CTCF	chr15:83775819-83776423	K562	blood:	n/a	chr15:83776087-83776096 chr15:83776371-83776384 chr15:83776165-83776178
48	E2F6	chr15:83776230-83776409	K562	blood:	n/a	chr15:83776355-83776364 chr15:83776361-83776371 chr15:83776317-83776326 chr15:83776262-83776276
49	POLR2A	chr15:83775979-83777887	HUVEC	blood vessel:	n/a	n/a
50	YY1	chr15:83776207-83776341	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83776269-83776319	BJ	skin:	n/a
2	chr15:83776271-83776321	T-47D	breast:	n/a
3	chr15:83776271-83776321	HCM	heart:	n/a
4	chr15:83776271-83776321	Hela-S3	cervix:	n/a
5	chr15:83776271-83776321	IMR90	lung:	fetal
6	chr15:83776271-83776321	LNCaP	prostate:	n/a
7	chr15:83776271-83776321	NH-A	brain:	n/a
8	chr15:83776269-83776319	PFSK-1	brain:	n/a
9	chr15:83776269-83776319	Caco-2	colon:	n/a
10	chr15:83776269-83776319	SK-N-SH	brain:	n/a
11	chr15:83776269-83776319	AoSMC	blood vessel:	n/a
12	chr15:83776271-83776321	MCF10A-Er-Src	breast:	n/a
13	chr15:83776271-83776321	ECC-1	luminal epithelium:	n/a
14	chr15:83776271-83776321	HRPEpiC	eye:	n/a
15	chr15:83776269-83776319	Hela-S3	cervix:	n/a
16	chr15:83776269-83776319	HL-60	blood:	n/a
17	chr15:83776269-83776319	AG04449	skin:	fetal
18	chr15:83776271-83776321	NB4	blood:	n/a
19	chr15:83776271-83776321	PrEC	prostate:	n/a
20	chr15:83776271-83776321	AG10803	skin:	n/a
21	chr15:83776269-83776319	HCT-116	colon:	n/a
22	chr15:83776269-83776319	ovcar-3	ovarian:	n/a
23	chr15:83776271-83776321	HUVEC	blood vessel:	n/a
24	chr15:83776271-83776321	HAEpiC	amniotic membrane:	n/a
25	chr15:83776269-83776319	AG10803	skin:	n/a
26	chr15:83776271-83776321	SKMC	muscle:	n/a
27	chr15:83776269-83776319	T-47D	breast:	n/a
28	chr15:83776271-83776321	PANC-1	pancreas:	n/a
29	chr15:83776271-83776321	HNPCEpiC	eye:	n/a
30	chr15:83776269-83776319	GM12891	blood:	n/a
31	chr15:83776271-83776321	AG04449	skin:	fetal
32	chr15:83776269-83776319	GM12878	blood:	n/a
33	chr15:83776271-83776321	Jurkat	blood:	n/a
34	chr15:83776271-83776321	BJ	skin:	n/a
35	chr15:83776269-83776319	ECC-1	luminal epithelium:	n/a
36	chr15:83776269-83776319	SAEC	small airway:	n/a
37	chr15:83776269-83776319	CMK	blood:	n/a
38	chr15:83776271-83776321	GM12891	blood:	n/a
39	chr15:83776271-83776321	SK-N-SH_RA	brain:	n/a
40	chr15:83776271-83776321	RPTEC	kidney:	n/a
41	chr15:83776271-83776321	AoSMC	blood vessel:	n/a
42	chr15:83776271-83776321	AG04450	lung:	fetal
43	chr15:83776271-83776321	HepG2	liver:	n/a
44	chr15:83776269-83776319	NHDF-neo	bronchial:	n/a
45	chr15:83776269-83776319	GM19239	blood:	n/a
46	chr15:83776269-83776319	Jurkat	blood:	n/a
47	chr15:83776269-83776319	HCF	heart:	n/a
48	chr15:83776271-83776321	NT2-D1	testis:	n/a
49	chr15:83776269-83776319	HCM	heart:	n/a
50	chr15:83776269-83776319	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:83734435..83737238-chr15:83775284..83776851,2	MCF-7	breast:
2	chr15:83734097..83737104-chr15:83774428..83777906,3	MCF-7	breast:
3	chr15:83679523..83682277-chr15:83776010..83777597,2	K562	blood:
4	chr15:83731075..83738271-chr15:83771545..83781798,12	K562	blood:
5	chr15:83712253..83714885-chr15:83774266..83777073,2	K562	blood:

Variant related genes	Relation type
TM6SF1	TF binding region
TM6SF1	CpG island
ENSG00000263643	Chromatin interaction
ENSG00000260608	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000064726	Chromatin interaction
ENSG00000259308	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	nsv534418	chr15:83770116-83960718	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3392859	chr15:83775373-83777921	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83775200-83776800	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr15:83775400-83776800	Active TSS	Primary T cells from cord blood	blood
3	chr15:83775400-83776800	Active TSS	Brain Cingulate Gyrus	brain
4	chr15:83775400-83776800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:83775400-83777000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr15:83775400-83777000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr15:83775400-83777000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
8	chr15:83775600-83776400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:83775600-83776400	Enhancers	Primary B cells from peripheral blood	blood
10	chr15:83775600-83776400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:83775600-83776400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:83775600-83776400	Bivalent/Poised TSS	Fetal Brain Female	brain
13	chr15:83775600-83776600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:83775600-83776600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
15	chr15:83775600-83776800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr15:83775600-83776800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr15:83775600-83776800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr15:83775600-83776800	Active TSS	Brain Anterior Caudate	brain
19	chr15:83775600-83776800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr15:83775600-83776800	Bivalent/Poised TSS	NHEK	skin
21	chr15:83775600-83777000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:83775600-83777000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr15:83775600-83777000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr15:83775600-83777000	Active TSS	Psoas Muscle	Psoas
25	chr15:83775600-83777000	Active TSS	Right Atrium	heart
26	chr15:83775600-83777400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr15:83775600-83778000	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr15:83775600-83778000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:83775800-83776400	Active TSS	Left Ventricle	heart
30	chr15:83775800-83776600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr15:83775800-83776600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:83775800-83776600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:83775800-83776600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
34	chr15:83775800-83776600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr15:83775800-83776600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr15:83775800-83776600	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr15:83775800-83776600	Bivalent/Poised TSS	Esophagus	oesophagus
38	chr15:83775800-83776600	Flanking Active TSS	Pancreas	Pancrea
39	chr15:83775800-83776600	Bivalent/Poised TSS	NH-A	brain
40	chr15:83775800-83776800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:83775800-83776800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:83775800-83776800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
43	chr15:83775800-83776800	Flanking Bivalent TSS/Enh	HMEC	breast
44	chr15:83775800-83776800	Active TSS	K562	blood
45	chr15:83775800-83777000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:83775800-83777000	Active TSS	Aorta	Aorta
47	chr15:83775800-83777000	Active TSS	Ovary	ovary
48	chr15:83775800-83777000	Bivalent/Poised TSS	Small Intestine	intestine
49	chr15:83775800-83777200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:83775800-83777200	Enhancers	Liver	Liver

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