Variant report

Variant	rs554284508
Chromosome Location	chr15:83775932-83775933
allele	A/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	CCNT2	chr15:83775901-83776854	K562	blood:	n/a	n/a
4	HMGN3	chr15:83775866-83777666	K562	blood:	n/a	n/a
5	ZBTB7A	chr15:83775783-83777007	ECC-1	luminal epithelium:	n/a	chr15:83776354-83776363
6	GABPA	chr15:83775744-83776059	K562	blood:	n/a	n/a
7	RCOR1	chr15:83775654-83775996	K562	blood:	n/a	n/a
8	POLR2A	chr15:83775922-83778028	HUVEC	blood vessel:	n/a	n/a
9	GABPA	chr15:83775759-83775964	GM12878	blood:	n/a	n/a
10	MAX	chr15:83775793-83776562	ECC-1	luminal epithelium:	n/a	chr15:83776309-83776318
11	MAX	chr15:83775633-83776630	A549	lung:	n/a	chr15:83776309-83776318
12	MAX	chr15:83775749-83776640	K562	blood:	n/a	chr15:83776309-83776318
13	POLR2A	chr15:83775789-83777882	HUVEC	blood vessel:	n/a	n/a
14	GABPA	chr15:83775628-83776091	A549	lung:	n/a	n/a
15	RAD21	chr15:83775732-83776296	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZBTB7A	chr15:83775847-83776944	ECC-1	luminal epithelium:	n/a	chr15:83776354-83776363
17	UBTF	chr15:83775772-83776272	K562	blood:	n/a	n/a
18	MYC	chr15:83775548-83776369	K562	blood:	n/a	chr15:83776309-83776318
19	POLR2A	chr15:83775906-83776531	GM12878	blood:	n/a	n/a
20	ZNF384	chr15:83775426-83776048	K562	blood:	n/a	n/a
21	GABPA	chr15:83775676-83776680	K562	blood:	n/a	chr15:83776355-83776364 chr15:83776361-83776370 chr15:83776317-83776326 chr15:83776268-83776277
22	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
23	MYC	chr15:83775636-83776612	K562	blood:	n/a	chr15:83776309-83776318
24	ELF1	chr15:83775756-83776309	GM12878	blood:	n/a	chr15:83776133-83776142
25	GABPA	chr15:83775769-83775961	GM12878	blood:	n/a	n/a
26	GABPA	chr15:83775605-83776450	H1-hESC	embryonic stem cell:	n/a	chr15:83776355-83776364 chr15:83776361-83776370 chr15:83776317-83776326 chr15:83776268-83776277
27	POLR2A	chr15:83775657-83776454	K562	blood:	n/a	n/a
28	MAX	chr15:83775694-83776685	K562	blood:	n/a	chr15:83776309-83776318
29	MAZ	chr15:83775659-83776536	K562	blood:	n/a	chr15:83776309-83776318
30	GATA1	chr15:83775312-83776113	PBDE	blood:	n/a	n/a
31	PAX5	chr15:83775907-83776446	GM12892	blood:	n/a	chr15:83776078-83776087 chr15:83776359-83776368
32	POLR2A	chr15:83775875-83776608	K562	blood:	n/a	n/a
33	BHLHE40	chr15:83775658-83776104	K562	blood:	n/a	chr15:83776083-83776099
34	CTCF	chr15:83775860-83776010	GM06990	blood:	n/a	n/a
35	RCOR1	chr15:83775505-83776504	K562	blood:	n/a	n/a
36	JUND	chr15:83775756-83776123	K562	blood:	n/a	chr15:83776024-83776038
37	HCFC1	chr15:83775767-83776321	K562	blood:	n/a	n/a
38	CTCF	chr15:83775819-83776423	K562	blood:	n/a	chr15:83776087-83776096 chr15:83776371-83776384 chr15:83776165-83776178
39	UBTF	chr15:83775787-83776495	K562	blood:	n/a	n/a
40	FOXA2	chr15:83775508-83775987	A549	lung:	n/a	n/a
41	POLR2A	chr15:83775913-83777806	GM12892	blood:	n/a	n/a
42	GABPA	chr15:83775677-83776071	A549	lung:	n/a	n/a
43	POLR2A	chr15:83775661-83777331	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83775931-83775981	HIPEpiC	eye:	n/a
2	chr15:83775931-83775981	NHBE	bronchial:	n/a
3	chr15:83775931-83775981	K562	blood:	n/a
4	chr15:83775931-83775981	GM12892	blood:	n/a
5	chr15:83775931-83775981	SK-N-SH_RA	brain:	n/a
6	chr15:83775931-83775981	HPAEpiC	pulmonary alveolar:	n/a
7	chr15:83775931-83775981	AG04449	skin:	fetal
8	chr15:83775931-83775981	U87	brain:	n/a
9	chr15:83775931-83775981	A549	lung:	n/a
10	chr15:83775931-83775981	HCPEpiC	choroid plexus:	n/a
11	chr15:83775931-83775981	AG09309	skin:	n/a
12	chr15:83775931-83775981	ECC-1	luminal epithelium:	n/a
13	chr15:83775931-83775981	HCM	heart:	n/a
14	chr15:83775931-83775981	HEEpiC	esophagus:	n/a
15	chr15:83775931-83775981	RPTEC	kidney:	n/a
16	chr15:83775931-83775981	ovcar-3	ovarian:	n/a
17	chr15:83775931-83775981	HEK293	kidney:	embryo
18	chr15:83775931-83775981	HepG2	liver:	n/a
19	chr15:83775931-83775981	LNCaP	prostate:	n/a
20	chr15:83775931-83775981	HRPEpiC	eye:	n/a
21	chr15:83775931-83775981	HL-60	blood:	n/a
22	chr15:83775931-83775981	NH-A	brain:	n/a
23	chr15:83775931-83775981	Hela-S3	cervix:	n/a
24	chr15:83775931-83775981	NT2-D1	testis:	n/a
25	chr15:83775931-83775981	AoSMC	blood vessel:	n/a
26	chr15:83775931-83775981	PrEC	prostate:	n/a
27	chr15:83775931-83775981	H1-hESC	embryonic stem cell:	embryo
28	chr15:83775931-83775981	HRCEpiC	kidney:	n/a
29	chr15:83775931-83775981	NHDF-neo	bronchial:	n/a
30	chr15:83775931-83775981	GM19239	blood:	n/a
31	chr15:83775931-83775981	T-47D	breast:	n/a
32	chr15:83775931-83775981	CMK	blood:	n/a
33	chr15:83775931-83775981	Hepatocyte	liver:	n/a
34	chr15:83775931-83775981	GM12891	blood:	n/a
35	chr15:83775931-83775981	SKMC	muscle:	n/a
36	chr15:83775931-83775981	HNPCEpiC	eye:	n/a
37	chr15:83775931-83775981	BE2_C	brain:	n/a
38	chr15:83775931-83775981	MCF10A-Er-Src	breast:	n/a
39	chr15:83775931-83775981	HAEpiC	amniotic membrane:	n/a
40	chr15:83775931-83775981	HRE	kidney:	n/a
41	chr15:83775931-83775981	AG09319	gingival:	n/a
42	chr15:83775931-83775981	PANC-1	pancreas:	n/a
43	chr15:83775931-83775981	AG04450	lung:	fetal
44	chr15:83775931-83775981	NB4	blood:	n/a
45	chr15:83775931-83775981	ProgFib	skin:	n/a
46	chr15:83775931-83775981	SAEC	small airway:	n/a
47	chr15:83775931-83775981	IMR90	lung:	fetal
48	chr15:83775931-83775981	HMEC	breast:	n/a
49	chr15:83775931-83775981	Caco-2	colon:	n/a
50	chr15:83775931-83775981	MCF-7	breast:	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	chr15:83731075..83738271-chr15:83771545..83781798,12	K562	blood:
4	chr15:83773353..83776031-chr15:83781914..83783541,2	K562	blood:
5	chr15:83712253..83714885-chr15:83774266..83777073,2	K562	blood:

Variant related genes	Relation type
TM6SF1	TF binding region
TM6SF1	CpG island
ENSG00000064726	Chromatin interaction
ENSG00000260579	Chromatin interaction
ENSG00000259308	Chromatin interaction
ENSG00000263643	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:115 , 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	chr15:83775400-83776000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:83775400-83776000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
4	chr15:83775400-83776000	Enhancers	Fetal Heart	heart
5	chr15:83775400-83776000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
6	chr15:83775400-83776000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr15:83775400-83776000	Flanking Bivalent TSS/Enh	A549	lung
8	chr15:83775400-83776800	Active TSS	Primary T cells from cord blood	blood
9	chr15:83775400-83776800	Active TSS	Brain Cingulate Gyrus	brain
10	chr15:83775400-83776800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:83775400-83777000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr15:83775400-83777000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr15:83775400-83777000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
14	chr15:83775600-83776000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr15:83775600-83776000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr15:83775600-83776000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr15:83775600-83776000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
18	chr15:83775600-83776000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr15:83775600-83776000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:83775600-83776000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
21	chr15:83775600-83776000	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr15:83775600-83776000	Flanking Active TSS	Right Ventricle	heart
23	chr15:83775600-83776000	Enhancers	Spleen	Spleen
24	chr15:83775600-83776000	Flanking Active TSS	GM12878-XiMat	blood
25	chr15:83775600-83776000	Flanking Active TSS	HUVEC	blood vessel
26	chr15:83775600-83776000	Flanking Bivalent TSS/Enh	Osteobl	bone
27	chr15:83775600-83776200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:83775600-83776200	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr15:83775600-83776200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:83775600-83776200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
31	chr15:83775600-83776400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:83775600-83776400	Enhancers	Primary B cells from peripheral blood	blood
33	chr15:83775600-83776400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:83775600-83776400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:83775600-83776400	Bivalent/Poised TSS	Fetal Brain Female	brain
36	chr15:83775600-83776600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:83775600-83776600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr15:83775600-83776800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr15:83775600-83776800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:83775600-83776800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr15:83775600-83776800	Active TSS	Brain Anterior Caudate	brain
42	chr15:83775600-83776800	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr15:83775600-83776800	Bivalent/Poised TSS	NHEK	skin
44	chr15:83775600-83777000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr15:83775600-83777000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr15:83775600-83777000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr15:83775600-83777000	Active TSS	Psoas Muscle	Psoas
48	chr15:83775600-83777000	Active TSS	Right Atrium	heart
49	chr15:83775600-83777400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr15:83775600-83778000	Flanking Active TSS	Primary hematopoietic stem cells	blood

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