Variant report

Variant	rs566213511
Chromosome Location	chr15:34502452-34502453
allele	C/T
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	CBX3	chr15:34502233-34502541	K562	blood:	n/a	n/a
2	RAD21	chr15:34502105-34502710	A549	lung:	n/a	chr15:34502389-34502401 chr15:34502391-34502405 chr15:34502107-34502121 chr15:34502390-34502403 chr15:34502391-34502401 chr15:34502387-34502406
3	RAD21	chr15:34502039-34502642	HCT-116	colon:	n/a	chr15:34502389-34502401 chr15:34502391-34502405 chr15:34502107-34502121 chr15:34502390-34502403 chr15:34502391-34502401 chr15:34502387-34502406
4	TAF1	chr15:34501626-34502599	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr15:34501759-34502473	A549	lung:	n/a	n/a
6	POU2F2	chr15:34502002-34502515	GM12878	blood:	n/a	chr15:34502108-34502120
7	POLR2A	chr15:34501687-34502545	PANC-1	pancreas:	n/a	n/a
8	NR2F2	chr15:34502034-34502679	K562	blood:	n/a	chr15:34502469-34502484
9	SIN3AK20	chr15:34502020-34502567	A549	lung:	n/a	n/a
10	GATA3	chr15:34502081-34502610	T-47D	breast:	n/a	n/a
11	IRF1	chr15:34501543-34502504	K562	blood:	n/a	chr15:34502332-34502346 chr15:34502437-34502451 chr15:34502456-34502465 chr15:34501967-34501981
12	POLR2A	chr15:34501729-34502469	A549	lung:	n/a	n/a
13	CTCF	chr15:34502360-34502510	HRPEpiC	eye:	n/a	chr15:34502384-34502405 chr15:34502392-34502402 chr15:34502389-34502407 chr15:34502391-34502404 chr15:34502390-34502406 chr15:34502395-34502404
14	YY1	chr15:34501671-34502479	HepG2	liver:	n/a	chr15:34501922-34501933 chr15:34502061-34502075 chr15:34501925-34501939 chr15:34502111-34502125
15	CTCF	chr15:34502257-34502548	GM10248	blood:	n/a	chr15:34502384-34502405 chr15:34502392-34502402 chr15:34502389-34502407 chr15:34502391-34502404 chr15:34502390-34502406 chr15:34502509-34502516 chr15:34502395-34502404
16	POLR2A	chr15:34502010-34502467	HepG2	liver:	n/a	n/a
17	CTCF	chr15:34502303-34502631	GM20000	blood:	n/a	chr15:34502384-34502405 chr15:34502392-34502402 chr15:34502389-34502407 chr15:34502391-34502404 chr15:34502390-34502406 chr15:34502509-34502516 chr15:34502395-34502404
18	MYC	chr15:34501601-34502606	K562	blood:	n/a	n/a
19	MAX	chr15:34502144-34502558	H1-hESC	embryonic stem cell:	n/a	n/a
20	PAX5	chr15:34502141-34502594	GM12878	blood:	n/a	n/a
21	TBP	chr15:34502071-34502516	GM12878	blood:	n/a	n/a
22	YY1	chr15:34501889-34502552	SK-N-SH_RA	brain:	n/a	chr15:34501922-34501933 chr15:34502061-34502075 chr15:34501925-34501939 chr15:34502111-34502125
23	UBTF	chr15:34501574-34502561	K562	blood:	n/a	n/a
24	MAZ	chr15:34501808-34502554	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:34501774-34502602	GM19193	blood:	n/a	n/a
26	EP300	chr15:34501788-34502593	HepG2	liver:	n/a	chr15:34502114-34502123 chr15:34502295-34502311 chr15:34502099-34502115
27	TFAP2A	chr15:34501714-34502712	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr15:34502360-34502510	HPF	lung:	n/a	chr15:34502384-34502405 chr15:34502392-34502402 chr15:34502389-34502407 chr15:34502391-34502404 chr15:34502390-34502406 chr15:34502395-34502404
29	CTCF	chr15:34502182-34502605	T-47D	breast:	n/a	chr15:34502384-34502405 chr15:34502392-34502402 chr15:34502389-34502407 chr15:34502391-34502404 chr15:34502390-34502406 chr15:34502509-34502516 chr15:34502395-34502404
30	GABPA	chr15:34501819-34502535	K562	blood:	n/a	chr15:34502114-34502123 chr15:34502116-34502125
31	TAF7	chr15:34501722-34502519	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr15:34501749-34502530	GM18526	blood:	n/a	n/a
33	HCFC1	chr15:34501749-34502562	K562	blood:	n/a	n/a
34	CTCF	chr15:34502360-34502510	NHDF-neo	bronchial:	n/a	chr15:34502384-34502405 chr15:34502392-34502402 chr15:34502389-34502407 chr15:34502391-34502404 chr15:34502390-34502406 chr15:34502395-34502404
35	RAD21	chr15:34502200-34502559	GM12878	blood:	n/a	chr15:34502389-34502401 chr15:34502391-34502405 chr15:34502390-34502403 chr15:34502391-34502401 chr15:34502387-34502406
36	MAX	chr15:34501645-34502591	K562	blood:	n/a	n/a
37	RAD21	chr15:34502175-34502614	SK-N-SH_RA	brain:	n/a	chr15:34502389-34502401 chr15:34502391-34502405 chr15:34502390-34502403 chr15:34502391-34502401 chr15:34502387-34502406
38	RAD21	chr15:34502129-34502572	HepG2	liver:	n/a	chr15:34502389-34502401 chr15:34502391-34502405 chr15:34502390-34502403 chr15:34502391-34502401 chr15:34502387-34502406
39	CTCF	chr15:34502320-34502470	HUVEC	blood vessel:	n/a	chr15:34502384-34502405 chr15:34502392-34502402 chr15:34502389-34502407 chr15:34502391-34502404 chr15:34502390-34502406 chr15:34502395-34502404
40	ETS1	chr15:34502047-34502626	A549	lung:	n/a	n/a
41	YY1	chr15:34501784-34502561	SK-N-SH_RA	brain:	n/a	chr15:34501922-34501933 chr15:34502061-34502075 chr15:34501925-34501939 chr15:34502111-34502125
42	CTCF	chr15:34502320-34502470	AG04450	lung:	n/a	chr15:34502384-34502405 chr15:34502392-34502402 chr15:34502389-34502407 chr15:34502391-34502404 chr15:34502390-34502406 chr15:34502395-34502404
43	TCF7L2	chr15:34501847-34502537	HCT-116	colon:	n/a	n/a
44	POLR2A	chr15:34501725-34502529	K562	blood:	n/a	n/a
45	MAX	chr15:34501680-34502610	NB4	blood:	n/a	n/a
46	RAD21	chr15:34502109-34502693	ECC-1	luminal epithelium:	n/a	chr15:34502389-34502401 chr15:34502391-34502405 chr15:34502390-34502403 chr15:34502391-34502401 chr15:34502387-34502406
47	POLR2A	chr15:34501632-34502549	HUVEC	blood vessel:	n/a	n/a
48	E2F4	chr15:34502114-34502541	GM12878	blood:	n/a	chr15:34502114-34502123
49	POLR2A	chr15:34502038-34502551	U87	brain:	n/a	n/a
50	FOS	chr15:34502273-34502505	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:34502435-34502485	Jurkat	blood:	n/a
2	chr15:34502418-34502468	T-47D	breast:	n/a
3	chr15:34502418-34502468	PANC-1	pancreas:	n/a
4	chr15:34502418-34502468	HPAEpiC	pulmonary alveolar:	n/a
5	chr15:34502418-34502468	SAEC	small airway:	n/a
6	chr15:34502435-34502485	GM06990	blood:	n/a
7	chr15:34502418-34502468	SK-N-SH	brain:	n/a
8	chr15:34502435-34502485	CMK	blood:	n/a
9	chr15:34502418-34502468	HIPEpiC	eye:	n/a
10	chr15:34502418-34502468	BJ	skin:	n/a
11	chr15:34502435-34502485	HRCEpiC	kidney:	n/a
12	chr15:34502418-34502468	NT2-D1	testis:	n/a
13	chr15:34502418-34502468	Jurkat	blood:	n/a
14	chr15:34502435-34502485	HUVEC	blood vessel:	n/a
15	chr15:34502435-34502485	A549	lung:	n/a
16	chr15:34502418-34502468	Hepatocyte	liver:	n/a
17	chr15:34502435-34502485	SAEC	small airway:	n/a
18	chr15:34502435-34502485	Caco-2	colon:	n/a
19	chr15:34502435-34502485	HMEC	breast:	n/a
20	chr15:34502418-34502468	LNCaP	prostate:	n/a
21	chr15:34502418-34502468	HCT-116	colon:	n/a
22	chr15:34502418-34502468	RPTEC	kidney:	n/a
23	chr15:34502435-34502485	HNPCEpiC	eye:	n/a
24	chr15:34502418-34502468	AG09319	gingival:	n/a
25	chr15:34502435-34502485	AG04450	lung:	fetal
26	chr15:34502418-34502468	MCF10A-Er-Src	breast:	n/a
27	chr15:34502418-34502468	GM12892	blood:	n/a
28	chr15:34502418-34502468	AG09309	skin:	n/a
29	chr15:34502418-34502468	GM19239	blood:	n/a
30	chr15:34502418-34502468	HRPEpiC	eye:	n/a
31	chr15:34502435-34502485	HL-60	blood:	n/a
32	chr15:34502418-34502468	NHDF-neo	bronchial:	n/a
33	chr15:34502418-34502468	HCM	heart:	n/a
34	chr15:34502435-34502485	NT2-D1	testis:	n/a
35	chr15:34502418-34502468	GM12878	blood:	n/a
36	chr15:34502435-34502485	ovcar-3	ovarian:	n/a
37	chr15:34502435-34502485	HIPEpiC	eye:	n/a
38	chr15:34502418-34502468	AG04450	lung:	fetal
39	chr15:34502418-34502468	HNPCEpiC	eye:	n/a
40	chr15:34502435-34502485	AG04449	skin:	fetal
41	chr15:34502435-34502485	HRE	kidney:	n/a
42	chr15:34502435-34502485	HRPEpiC	eye:	n/a
43	chr15:34502435-34502485	HCPEpiC	choroid plexus:	n/a
44	chr15:34502418-34502468	H1-hESC	embryonic stem cell:	embryo
45	chr15:34502418-34502468	NH-A	brain:	n/a
46	chr15:34502418-34502468	Caco-2	colon:	n/a
47	chr15:34502435-34502485	AoSMC	blood vessel:	n/a
48	chr15:34502435-34502485	HPAEpiC	pulmonary alveolar:	n/a
49	chr15:34502435-34502485	MCF-7	breast:	n/a
50	chr15:34502435-34502485	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:34499795..34503886-chr15:34627014..34631557,6	K562	blood:
2	chr15:34500839..34504564-chr15:34529168..34532268,3	K562	blood:
3	chr15:34500871..34503422-chr15:34659158..34662481,4	K562	blood:
4	chr15:34498121..34503791-chr15:34514506..34519551,14	K562	blood:
5	chr15:34391225..34395745-chr15:34498845..34504196,8	K562	blood:
6	chr15:34329770..34332450-chr15:34500868..34502911,3	K562	blood:
7	chr15:34330950..34333091-chr15:34501411..34503652,2	K562	blood:
8	chr15:34502043..34502681-chr6:27100763..27101327,2	Hela-S3	cervix:
9	chr15:34497680..34504001-chr15:34514973..34521212,14	K562	blood:
10	chr11:62432317..62432844-chr15:34501985..34502487,2	HCT-116	colon:
11	chr15:34500616..34503501-chr15:34610779..34612770,2	K562	blood:
12	chr15:34491377..34494902-chr15:34500682..34503965,3	K562	blood:

Variant related genes	Relation type
KATNBL1	TF binding region
KATNBL1	CpG island
ENSG00000162194	Chromatin interaction
ENSG00000128463	Chromatin interaction
ENSG00000140199	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000134152	Chromatin interaction
ENSG00000169857	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000182405	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000176454	Chromatin interaction
ENSG00000134153	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1045173	chr15:34501055-34596995	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34499800-34502600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:34500200-34502600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr15:34500400-34502600	Active TSS	HSMM	muscle
4	chr15:34500400-34502600	Active TSS	HSMMtube	muscle
5	chr15:34500600-34502600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:34500600-34502600	Active TSS	Placenta	Placenta
7	chr15:34500600-34502600	Active TSS	GM12878-XiMat	blood
8	chr15:34500600-34502800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:34500800-34502600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:34500800-34502600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:34500800-34502600	Active TSS	Right Atrium	heart
12	chr15:34501000-34502600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:34501000-34502600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:34501000-34502600	Active TSS	Ovary	ovary
15	chr15:34501000-34502600	Active TSS	Psoas Muscle	Psoas
16	chr15:34501000-34502600	Active TSS	Right Ventricle	heart
17	chr15:34501000-34502600	Active TSS	NHLF	lung
18	chr15:34501200-34502600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr15:34501200-34502600	Active TSS	Muscle Satellite Cultured Cells	--
20	chr15:34501200-34502600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:34501200-34502600	Active TSS	Colonic Mucosa	Colon
22	chr15:34501200-34502600	Active TSS	Fetal Intestine Large	intestine
23	chr15:34501200-34502600	Active TSS	NH-A	brain
24	chr15:34501200-34502600	Active TSS	NHEK	skin
25	chr15:34501200-34502600	Active TSS	Osteobl	bone
26	chr15:34501200-34502800	Active TSS	Fetal Intestine Small	intestine
27	chr15:34501200-34502800	Active TSS	A549	lung
28	chr15:34501400-34502600	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr15:34501400-34502600	Active TSS	Brain Angular Gyrus	brain
30	chr15:34501400-34502600	Active TSS	Brain Cingulate Gyrus	brain
31	chr15:34501400-34502600	Active TSS	Brain Germinal Matrix	brain
32	chr15:34501400-34502600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:34501400-34502600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr15:34501400-34502600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr15:34501400-34502600	Active TSS	Fetal Lung	lung
36	chr15:34501400-34502600	Active TSS	Fetal Thymus	thymus
37	chr15:34501400-34502600	Active TSS	Rectal Smooth Muscle	rectum
38	chr15:34501400-34502600	Active TSS	Thymus	Thymus
39	chr15:34501400-34502600	Active TSS	Hela-S3	cervix
40	chr15:34501400-34502800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:34501600-34502600	Active TSS	Primary hematopoietic stem cells	blood
42	chr15:34501600-34502600	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr15:34501600-34502600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr15:34501600-34502600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:34501600-34502600	Active TSS	Brain Substantia Nigra	brain
46	chr15:34501600-34502600	Active TSS	Fetal Brain Female	brain
47	chr15:34501600-34502600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr15:34501600-34502800	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr15:34501600-34502800	Active TSS	Brain Hippocampus Middle	brain
50	chr15:34501600-34502800	Active TSS	Monocytes-CD14+_RO01746	blood

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