Variant report

Variant	rs142621053
Chromosome Location	chr17:63096318-63096319
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	MYC	chr17:63096085-63096995	MCF10A-Er-Src	breast:	n/a	chr17:63096967-63096977
2	BCL11A	chr17:63096032-63096351	GM12878	blood:	n/a	n/a
3	EGR1	chr17:63096059-63096392	GM12878	blood:	n/a	n/a
4	TCF12	chr17:63095986-63097512	A549	lung:	n/a	n/a
5	MAX	chr17:63096171-63096872	ECC-1	luminal epithelium:	n/a	n/a
6	YY1	chr17:63096021-63096389	HCT-116	colon:	n/a	n/a
7	MYBL2	chr17:63096236-63096927	HepG2	liver:	n/a	n/a
8	CTCF	chr17:63096220-63096370	HCFaa	heart:	n/a	n/a
9	EBF1	chr17:63095977-63097000	GM12878	blood:	n/a	chr17:63096189-63096200
10	RCOR1	chr17:63095655-63096980	K562	blood:	n/a	n/a
11	CTCF	chr17:63096200-63096350	HMF	breast:	n/a	n/a
12	RAD21	chr17:63096158-63097120	ECC-1	luminal epithelium:	n/a	chr17:63096834-63096848 chr17:63096830-63096849 chr17:63096832-63096844
13	ATF2	chr17:63095924-63096675	GM12878	blood:	n/a	n/a
14	NFIC	chr17:63095997-63096917	GM12878	blood:	n/a	n/a
15	MAX	chr17:63096054-63097448	MCF-7	breast:	n/a	chr17:63097222-63097232 chr17:63097225-63097234 chr17:63096967-63096977
16	POLR2A	chr17:63095989-63096845	GM12878	blood:	n/a	n/a
17	CTCF	chr17:63096260-63096410	GM12873	blood:	n/a	n/a
18	FOXM1	chr17:63095952-63097046	GM12878	blood:	n/a	n/a
19	POLR2A	chr17:63096002-63096915	GM12892	blood:	n/a	n/a
20	MXI1	chr17:63096256-63097141	HepG2	liver:	n/a	n/a
21	FOS	chr17:63096028-63096425	MCF10A-Er-Src	breast:	n/a	n/a
22	GATA2	chr17:63096195-63097623	SH-SY5Y	brain:	n/a	n/a
23	CTCF	chr17:63096260-63096410	WI-38	lung:	n/a	n/a
24	CTCF	chr17:63096200-63096350	AG10803	skin:	n/a	n/a
25	CTCF	chr17:63096205-63096342	Kidney_OC	kidney:	n/a	n/a
26	NFIC	chr17:63096033-63096659	ECC-1	luminal epithelium:	n/a	n/a
27	BCL3	chr17:63096007-63096919	A549	lung:	n/a	chr17:63096771-63096784 chr17:63096763-63096772 chr17:63096597-63096606 chr17:63096816-63096829
28	CTCF	chr17:63096200-63096350	HEK293	kidney:	n/a	n/a
29	YY1	chr17:63096080-63096411	GM12892	blood:	n/a	n/a
30	ZNF263	chr17:63096195-63096937	K562	blood:	n/a	chr17:63096647-63096668
31	POLR2A	chr17:63096143-63096390	GM12878	blood:	n/a	n/a
32	MAZ	chr17:63096142-63097126	K562	blood:	n/a	chr17:63096967-63096977
33	CTCF	chr17:63096126-63097128	MCF-7	breast:	n/a	chr17:63096833-63096849 chr17:63096832-63096850 chr17:63096837-63096850 chr17:63096766-63096779 chr17:63096834-63096847 chr17:63096817-63096830 chr17:63096827-63096848 chr17:63096834-63096847
34	POLR2A	chr17:63096065-63096733	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr17:63096237-63096456	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr17:63096220-63096370	MCF-7	breast:	n/a	n/a
37	TCF7L2	chr17:63096082-63096952	HCT-116	colon:	n/a	n/a
38	ELK1	chr17:63096248-63096947	GM12878	blood:	n/a	n/a
39	CTCF	chr17:63096300-63096450	BE2_C	brain:	n/a	n/a
40	NFATC1	chr17:63096006-63096644	GM12878	blood:	n/a	n/a
41	RAD21	chr17:63096160-63097050	A549	lung:	n/a	chr17:63096834-63096848 chr17:63096830-63096849 chr17:63096832-63096844
42	POLR2A	chr17:63096066-63097175	GM12892	blood:	n/a	n/a
43	CTCF	chr17:63096200-63096350	BJ	skin:	n/a	n/a
44	POLR2A	chr17:63096118-63096738	GM12891	blood:	n/a	n/a
45	IRF4	chr17:63095984-63096821	GM12878	blood:	n/a	n/a
46	SMC3	chr17:63095992-63097070	GM12878	blood:	n/a	chr17:63096834-63096844 chr17:63096834-63096848
47	RFX5	chr17:63096105-63097109	Hela-S3	cervix:	n/a	n/a
48	MAX	chr17:63096133-63097058	Hela-S3	cervix:	n/a	chr17:63096967-63096977
49	BHLHE40	chr17:63096138-63096924	A549	lung:	n/a	n/a
50	POLR2A	chr17:63096245-63096378	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:63051381..63054935-chr17:63092846..63100708,11	MCF-7	breast:
2	chr17:63094402..63096834-chr17:63124738..63127386,3	MCF-7	breast:
3	chr17:62969521..62973434-chr17:63095329..63098484,3	MCF-7	breast:
4	chr17:63051785..63054961-chr17:63094963..63102322,8	MCF-7	breast:
5	chr17:63090606..63093224-chr17:63094471..63096809,2	K562	blood:
6	chr17:63056815..63059165-chr17:63094050..63096835,2	MCF-7	breast:
7	chr17:63050336..63051938-chr17:63095270..63097179,2	K562	blood:
8	chr17:62969603..62971143-chr17:63093866..63096603,2	K562	blood:
9	chr17:63094877..63096816-chr17:63119599..63121828,2	K562	blood:

Variant related genes	Relation type
ENSG00000263470	TF binding region
ENSG00000214174	Chromatin interaction
ENSG00000120063	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066765	chr17:62649313-63124303	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv575872	chr17:63084995-63111452	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv112229	chr17:63095123-63104894	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63082200-63096400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr17:63095400-63096400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr17:63095400-63096400	Enhancers	Pancreas	Pancrea
4	chr17:63095400-63096600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:63095400-63097200	Enhancers	Small Intestine	intestine
6	chr17:63095800-63097200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:63096000-63096400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr17:63096000-63096400	Enhancers	Thymus	Thymus
9	chr17:63096000-63096600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr17:63096000-63096600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr17:63096000-63096600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr17:63096000-63096600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr17:63096000-63096600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr17:63096000-63096600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr17:63096000-63096600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:63096000-63096600	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr17:63096000-63096600	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr17:63096000-63096600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr17:63096000-63096600	Flanking Active TSS	Hela-S3	cervix
20	chr17:63096200-63096400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr17:63096200-63096400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr17:63096200-63096400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr17:63096200-63096400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:63096200-63096400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr17:63096200-63096400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr17:63096200-63096400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr17:63096200-63096400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr17:63096200-63096400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:63096200-63096400	Enhancers	Aorta	Aorta
30	chr17:63096200-63096400	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr17:63096200-63096400	Enhancers	Brain Germinal Matrix	brain
32	chr17:63096200-63096400	Enhancers	Esophagus	oesophagus
33	chr17:63096200-63096400	Enhancers	Fetal Brain Female	brain
34	chr17:63096200-63096400	Enhancers	Fetal Intestine Large	intestine
35	chr17:63096200-63096400	Enhancers	Fetal Muscle Trunk	muscle
36	chr17:63096200-63096400	Enhancers	Fetal Thymus	thymus
37	chr17:63096200-63096400	Enhancers	Left Ventricle	heart
38	chr17:63096200-63096400	Enhancers	Ovary	ovary
39	chr17:63096200-63096400	Enhancers	Right Atrium	heart
40	chr17:63096200-63096400	Enhancers	Right Ventricle	heart
41	chr17:63096200-63096400	Flanking Active TSS	Stomach Mucosa	stomach
42	chr17:63096200-63096400	Enhancers	Dnd41	blood
43	chr17:63096200-63096400	Flanking Active TSS	HSMMtube	muscle
44	chr17:63096200-63096400	Enhancers	HUVEC	blood vessel
45	chr17:63096200-63096600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr17:63096200-63096600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr17:63096200-63096600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr17:63096200-63096600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr17:63096200-63096600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr17:63096200-63096600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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