Variant report

Variant	rs185629872
Chromosome Location	chr17:63096495-63096496
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	TCF12	chr17:63095986-63097512	A549	lung:	n/a	n/a
3	MAX	chr17:63096171-63096872	ECC-1	luminal epithelium:	n/a	n/a
4	MYBL2	chr17:63096236-63096927	HepG2	liver:	n/a	n/a
5	EBF1	chr17:63095977-63097000	GM12878	blood:	n/a	chr17:63096189-63096200
6	RCOR1	chr17:63095655-63096980	K562	blood:	n/a	n/a
7	RAD21	chr17:63096158-63097120	ECC-1	luminal epithelium:	n/a	chr17:63096834-63096848 chr17:63096830-63096849 chr17:63096832-63096844
8	ATF2	chr17:63095924-63096675	GM12878	blood:	n/a	n/a
9	NFIC	chr17:63095997-63096917	GM12878	blood:	n/a	n/a
10	MAX	chr17:63096054-63097448	MCF-7	breast:	n/a	chr17:63097222-63097232 chr17:63097225-63097234 chr17:63096967-63096977
11	CTCF	chr17:63096380-63096530	HRPEpiC	eye:	n/a	n/a
12	POLR2A	chr17:63095989-63096845	GM12878	blood:	n/a	n/a
13	FOXM1	chr17:63095952-63097046	GM12878	blood:	n/a	n/a
14	YY1	chr17:63096467-63096973	A549	lung:	n/a	chr17:63096761-63096770
15	CTCF	chr17:63096440-63096590	HPF	lung:	n/a	n/a
16	POLR2A	chr17:63096002-63096915	GM12892	blood:	n/a	n/a
17	RAD21	chr17:63096361-63097061	SK-N-SH_RA	brain:	n/a	chr17:63096834-63096848 chr17:63096830-63096849 chr17:63096832-63096844
18	MXI1	chr17:63096256-63097141	HepG2	liver:	n/a	n/a
19	GATA2	chr17:63096195-63097623	SH-SY5Y	brain:	n/a	n/a
20	MYC	chr17:63096420-63097005	NB4	blood:	n/a	chr17:63096967-63096977
21	NFIC	chr17:63096033-63096659	ECC-1	luminal epithelium:	n/a	n/a
22	BCL3	chr17:63096007-63096919	A549	lung:	n/a	chr17:63096771-63096784 chr17:63096763-63096772 chr17:63096597-63096606 chr17:63096816-63096829
23	ZNF263	chr17:63096195-63096937	K562	blood:	n/a	chr17:63096647-63096668
24	MAX	chr17:63096374-63097232	K562	blood:	n/a	chr17:63097222-63097232 chr17:63096967-63096977
25	MAZ	chr17:63096142-63097126	K562	blood:	n/a	chr17:63096967-63096977
26	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
27	POLR2A	chr17:63096065-63096733	Hela-S3	cervix:	n/a	n/a
28	MAZ	chr17:63096471-63097919	IMR90	lung:	n/a	chr17:63097652-63097661 chr17:63097222-63097232 chr17:63097652-63097661 chr17:63097225-63097234 chr17:63096967-63096977 chr17:63097652-63097662 chr17:63097653-63097660 chr17:63097648-63097663
29	TCF7L2	chr17:63096082-63096952	HCT-116	colon:	n/a	n/a
30	ELK1	chr17:63096248-63096947	GM12878	blood:	n/a	n/a
31	NFATC1	chr17:63096006-63096644	GM12878	blood:	n/a	n/a
32	RAD21	chr17:63096160-63097050	A549	lung:	n/a	chr17:63096834-63096848 chr17:63096830-63096849 chr17:63096832-63096844
33	POLR2A	chr17:63096066-63097175	GM12892	blood:	n/a	n/a
34	POLR2A	chr17:63096118-63096738	GM12891	blood:	n/a	n/a
35	IRF4	chr17:63095984-63096821	GM12878	blood:	n/a	n/a
36	SMC3	chr17:63095992-63097070	GM12878	blood:	n/a	chr17:63096834-63096844 chr17:63096834-63096848
37	RFX5	chr17:63096105-63097109	Hela-S3	cervix:	n/a	n/a
38	MAX	chr17:63096133-63097058	Hela-S3	cervix:	n/a	chr17:63096967-63096977
39	BHLHE40	chr17:63096138-63096924	A549	lung:	n/a	n/a
40	PAX5	chr17:63096460-63096868	GM12878	blood:	n/a	chr17:63096597-63096606
41	PML	chr17:63095958-63097102	GM12878	blood:	n/a	n/a
42	MAZ	chr17:63096205-63097034	Hela-S3	cervix:	n/a	chr17:63096967-63096977
43	RAD21	chr17:63096411-63097290	MCF-7	breast:	n/a	chr17:63096834-63096848 chr17:63096830-63096849 chr17:63096832-63096844
44	MAX	chr17:63096356-63097149	HepG2	liver:	n/a	chr17:63096967-63096977
45	RUNX3	chr17:63095886-63097010	GM12878	blood:	n/a	n/a
46	FOSL2	chr17:63095852-63097039	A549	lung:	n/a	n/a
47	MAX	chr17:63096024-63097087	A549	lung:	n/a	chr17:63096967-63096977
48	POLR2A	chr17:63096092-63097218	Raji	blood:	n/a	n/a
49	CHD2	chr17:63096105-63096977	GM12878	blood:	n/a	n/a
50	PAX5	chr17:63096033-63096522	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	chr17:62971246..62972147-chr17:63096451..63097018,2	MCF-7	breast:
4	chr17:62969521..62973434-chr17:63095329..63098484,3	MCF-7	breast:
5	chr17:63051785..63054961-chr17:63094963..63102322,8	MCF-7	breast:
6	chr17:63096447..63097264-chr17:63133141..63133975,2	K562	blood:
7	chr17:63090606..63093224-chr17:63094471..63096809,2	K562	blood:
8	chr17:62773091..62773822-chr17:63096388..63096888,2	K562	blood:
9	chr17:63056815..63059165-chr17:63094050..63096835,2	MCF-7	breast:
10	chr17:63050336..63051938-chr17:63095270..63097179,2	K562	blood:
11	chr17:62969603..62971143-chr17:63093866..63096603,2	K562	blood:
12	chr17:63094877..63096816-chr17:63119599..63121828,2	K562	blood:

Variant related genes	Relation type
ENSG00000263470	TF binding region
ENSG00000214174	Chromatin interaction
ENSG00000108370	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63095400-63096600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr17:63095400-63097200	Enhancers	Small Intestine	intestine
3	chr17:63095800-63097200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr17:63096000-63096600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr17:63096000-63096600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr17:63096000-63096600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr17:63096000-63096600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:63096000-63096600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr17:63096000-63096600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr17:63096000-63096600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr17:63096000-63096600	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr17:63096000-63096600	Flanking Active TSS	Brain Substantia Nigra	brain
13	chr17:63096000-63096600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr17:63096000-63096600	Flanking Active TSS	Hela-S3	cervix
15	chr17:63096200-63096600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr17:63096200-63096600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:63096200-63096600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr17:63096200-63096600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr17:63096200-63096600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr17:63096200-63096600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr17:63096200-63096600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr17:63096200-63096600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr17:63096200-63096600	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr17:63096200-63096600	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr17:63096200-63096600	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr17:63096200-63096600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr17:63096200-63096600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr17:63096200-63096600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr17:63096200-63096600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr17:63096200-63096600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr17:63096200-63096600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr17:63096200-63096600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:63096200-63096600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr17:63096200-63096600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:63096200-63096600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr17:63096200-63096600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr17:63096200-63096600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr17:63096200-63096600	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr17:63096200-63096600	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr17:63096200-63096600	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr17:63096200-63096600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr17:63096200-63096600	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr17:63096200-63096600	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr17:63096200-63096600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr17:63096200-63096600	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr17:63096200-63096600	Enhancers	Fetal Muscle Leg	muscle
47	chr17:63096200-63096600	Flanking Active TSS	Placenta	Placenta
48	chr17:63096200-63096600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr17:63096200-63096600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr17:63096200-63096600	Flanking Active TSS	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links