Variant report

Variant	rs533481102
Chromosome Location	chr17:15848090-15848091
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	CTCF	chr17:15847896-15848177	A549	lung:	n/a	chr17:15848121-15848129
2	RAD21	chr17:15847930-15848867	H1-hESC	embryonic stem cell:	n/a	chr17:15848106-15848120 chr17:15848448-15848462 chr17:15848121-15848130
3	E2F6	chr17:15847282-15849704	K562	blood:	n/a	chr17:15848125-15848135 chr17:15848457-15848466 chr17:15849005-15849014
4	POLR2A	chr17:15847896-15848930	A549	lung:	n/a	n/a
5	RAD21	chr17:15847763-15849123	HCT-116	colon:	n/a	chr17:15848106-15848120 chr17:15848448-15848462 chr17:15847895-15847908 chr17:15848121-15848130
6	POLR2A	chr17:15848047-15848838	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr17:15848020-15848170	GM12869	blood:	n/a	chr17:15848121-15848129
8	TAF1	chr17:15848082-15848772	ECC-1	luminal epithelium:	n/a	n/a
9	RAD21	chr17:15847846-15848218	H1-hESC	embryonic stem cell:	n/a	chr17:15848106-15848120 chr17:15847895-15847908 chr17:15848121-15848130
10	CTCF	chr17:15847986-15848224	T-47D	breast:	n/a	chr17:15848121-15848129
11	CTCF	chr17:15847960-15848110	GM12875	blood:	n/a	n/a
12	HDAC2	chr17:15847979-15848717	HepG2	liver:	n/a	chr17:15848294-15848303
13	CTCF	chr17:15848080-15848230	HA-sp	spinal cord:	n/a	chr17:15848121-15848129
14	EP300	chr17:15848081-15848699	HepG2	liver:	n/a	chr17:15848109-15848125
15	ZNF143	chr17:15847965-15848718	GM12878	blood:	n/a	chr17:15847988-15848006
16	CTCF	chr17:15848007-15848205	SK-N-SH_RA	brain:	n/a	chr17:15848121-15848129
17	MXI1	chr17:15847646-15850124	IMR90	lung:	n/a	chr17:15847670-15847679 chr17:15847670-15847679
18	CTCF	chr17:15848020-15848170	HMEC	breast:	n/a	chr17:15848121-15848129
19	POLR2A	chr17:15848085-15848344	HepG2	liver:	n/a	n/a
20	RAD21	chr17:15847824-15848859	IMR90	lung:	n/a	chr17:15848106-15848120 chr17:15848448-15848462 chr17:15847895-15847908 chr17:15848121-15848130
21	BACH1	chr17:15848068-15848827	H1-hESC	embryonic stem cell:	n/a	n/a
22	SMC3	chr17:15847939-15848843	K562	blood:	n/a	chr17:15848417-15848424 chr17:15848109-15848119
23	CTCF	chr17:15847960-15848110	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr17:15847980-15848130	GM12873	blood:	n/a	chr17:15848121-15848129
25	CTCF	chr17:15847980-15848130	HA-sp	spinal cord:	n/a	chr17:15848121-15848129
26	CTCF	chr17:15848020-15848170	HCFaa	heart:	n/a	chr17:15848121-15848129
27	CTCF	chr17:15848020-15848170	GM12873	blood:	n/a	chr17:15848121-15848129
28	CTCF	chr17:15848000-15848150	NHDF-neo	bronchial:	n/a	chr17:15848121-15848129
29	RAD21	chr17:15847846-15848846	ECC-1	luminal epithelium:	n/a	chr17:15848106-15848120 chr17:15848448-15848462 chr17:15847895-15847908 chr17:15848121-15848130
30	CTCF	chr17:15848060-15848210	HUVEC	blood vessel:	n/a	chr17:15848121-15848129
31	CTCF	chr17:15848072-15848183	GM10266	blood:	n/a	chr17:15848121-15848129
32	CTCF	chr17:15848018-15848246	Pancreas_OC	pancreas:	n/a	chr17:15848121-15848129
33	RAD21	chr17:15847985-15848184	GM12878	blood:	n/a	chr17:15848106-15848120 chr17:15848121-15848130
34	CTCF	chr17:15848008-15848157	GM13977	blood:	n/a	chr17:15848121-15848129
35	CTCF	chr17:15848037-15848168	Lung_OC	lung:	n/a	chr17:15848121-15848129
36	RAD21	chr17:15847771-15848984	A549	lung:	n/a	chr17:15848106-15848120 chr17:15848448-15848462 chr17:15847895-15847908 chr17:15848121-15848130
37	CTCF	chr17:15847896-15848755	K562	blood:	n/a	chr17:15848121-15848129 chr17:15848525-15848541
38	CTCF	chr17:15848015-15848230	MCF-7	breast:	n/a	chr17:15848121-15848129
39	HNF4A	chr17:15848088-15848516	HepG2	liver:	n/a	chr17:15848303-15848317 chr17:15848302-15848317
40	CTCF	chr17:15848022-15848235	A549	lung:	n/a	chr17:15848121-15848129
41	SIN3A	chr17:15847569-15848169	H1-hESC	embryonic stem cell:	n/a	chr17:15847670-15847679 chr17:15847935-15847943
42	CTCF	chr17:15847984-15848197	H1-hESC	embryonic stem cell:	n/a	chr17:15848121-15848129
43	CTCF	chr17:15848020-15848170	GM12872	blood:	n/a	chr17:15848121-15848129
44	CTCF	chr17:15847901-15848286	A549	lung:	n/a	chr17:15848121-15848129
45	E2F4	chr17:15847803-15848966	K562	blood:	n/a	chr17:15848125-15848135 chr17:15848457-15848466 chr17:15848298-15848309
46	PBX3	chr17:15848027-15848815	SK-N-SH	brain:	n/a	chr17:15848365-15848374 chr17:15848350-15848370
47	CTCF	chr17:15848040-15848190	HEEpiC	esophagus:	n/a	chr17:15848121-15848129
48	CTCF	chr17:15848080-15848230	WI-38	lung:	n/a	chr17:15848121-15848129
49	MAX	chr17:15847208-15848238	H1-hESC	embryonic stem cell:	n/a	chr17:15847670-15847681 chr17:15847670-15847681 chr17:15847671-15847680 chr17:15847671-15847680 chr17:15847671-15847680 chr17:15847670-15847680
50	HNF4A	chr17:15848075-15848527	HepG2	liver:	n/a	chr17:15848303-15848317 chr17:15848302-15848317

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15848067-15848117	NHBE	bronchial:	n/a
2	chr17:15848072-15848122	A549	lung:	n/a
3	chr17:15848072-15848122	HRE	kidney:	n/a
4	chr17:15848067-15848117	HRPEpiC	eye:	n/a
5	chr17:15848072-15848122	BE2_C	brain:	n/a
6	chr17:15848067-15848117	SK-N-MC	brain:	n/a
7	chr17:15848067-15848117	AG10803	skin:	n/a
8	chr17:15848067-15848117	K562	blood:	n/a
9	chr17:15848072-15848122	HCM	heart:	n/a
10	chr17:15848067-15848117	HepG2	liver:	n/a
11	chr17:15848072-15848122	NH-A	brain:	n/a
12	chr17:15848072-15848122	SKMC	muscle:	n/a
13	chr17:15848067-15848117	AG09319	gingival:	n/a
14	chr17:15848072-15848122	ProgFib	skin:	n/a
15	chr17:15848072-15848122	HCF	heart:	n/a
16	chr17:15848067-15848117	ovcar-3	ovarian:	n/a
17	chr17:15848072-15848122	HCPEpiC	choroid plexus:	n/a
18	chr17:15848067-15848117	HEEpiC	esophagus:	n/a
19	chr17:15848072-15848122	Hepatocyte	liver:	n/a
20	chr17:15848067-15848117	HRCEpiC	kidney:	n/a
21	chr17:15848072-15848122	GM12891	blood:	n/a
22	chr17:15848072-15848122	AG09309	skin:	n/a
23	chr17:15848067-15848117	GM06990	blood:	n/a
24	chr17:15848072-15848122	CMK	blood:	n/a
25	chr17:15848072-15848122	H1-hESC	embryonic stem cell:	embryo
26	chr17:15848067-15848117	SK-N-SH_RA	brain:	n/a
27	chr17:15848072-15848122	MCF-7	breast:	n/a
28	chr17:15848067-15848117	SAEC	small airway:	n/a
29	chr17:15848067-15848117	Caco-2	colon:	n/a
30	chr17:15848067-15848117	Hela-S3	cervix:	n/a
31	chr17:15848067-15848117	GM12878	blood:	n/a
32	chr17:15848072-15848122	HAEpiC	amniotic membrane:	n/a
33	chr17:15848067-15848117	GM19239	blood:	n/a
34	chr17:15848067-15848117	ProgFib	skin:	n/a
35	chr17:15848067-15848117	BJ	skin:	n/a
36	chr17:15848072-15848122	Jurkat	blood:	n/a
37	chr17:15848067-15848117	HRE	kidney:	n/a
38	chr17:15848067-15848117	HCPEpiC	choroid plexus:	n/a
39	chr17:15848067-15848117	A549	lung:	n/a
40	chr17:15848072-15848122	PrEC	prostate:	n/a
41	chr17:15848072-15848122	NB4	blood:	n/a
42	chr17:15848072-15848122	MCF10A-Er-Src	breast:	n/a
43	chr17:15848072-15848122	HRPEpiC	eye:	n/a
44	chr17:15848072-15848122	SK-N-MC	brain:	n/a
45	chr17:15848067-15848117	HL-60	blood:	n/a
46	chr17:15848072-15848122	HepG2	liver:	n/a
47	chr17:15848067-15848117	T-47D	breast:	n/a
48	chr17:15848072-15848122	LNCaP	prostate:	n/a
49	chr17:15848072-15848122	HCT-116	colon:	n/a
50	chr17:15848067-15848117	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:15845973..15849997-chr17:15902965..15906205,4	K562	blood:
2	chr17:15848046..15849969-chr17:15901406..15903295,2	MCF-7	breast:
3	chr17:15732168..15733133-chr17:15847994..15848750,2	MCF-7	breast:
4	chr17:15846803..15850519-chr17:15901644..15904167,3	MCF-7	breast:
5	chr17:15847750..15848627-chr9:5628326..5629051,2	HCT-116	colon:

Variant related genes	Relation type
ADORA2B	TF binding region
ADORA2B	CpG island
ENSG00000107036	Chromatin interaction
ENSG00000227790	Chromatin interaction
ENSG00000214941	Chromatin interaction
ENSG00000011295	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
4	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
8	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
9	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
12	nsv1061987	chr17:15810017-15855135	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	esv3402966	chr17:15847052-15849600	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15846400-15850000	Weak transcription	Hela-S3	cervix
2	chr17:15847200-15848200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr17:15847400-15848200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr17:15847400-15848600	Active TSS	HepG2	liver
5	chr17:15847400-15849200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
6	chr17:15847400-15849200	Active TSS	Brain Hippocampus Middle	brain
7	chr17:15847400-15849400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr17:15847400-15849400	Active TSS	Rectal Smooth Muscle	rectum
9	chr17:15847600-15848200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:15847600-15848200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr17:15847600-15848200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
12	chr17:15847600-15848600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr17:15847600-15848600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:15847600-15848600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
15	chr17:15847600-15848600	Bivalent Enhancer	Fetal Brain Male	brain
16	chr17:15847600-15848600	Active TSS	Right Atrium	heart
17	chr17:15847600-15849200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:15847600-15849200	Flanking Bivalent TSS/Enh	Thymus	Thymus
19	chr17:15847600-15849400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr17:15847600-15849400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:15847600-15849400	Bivalent/Poised TSS	Fetal Brain Female	brain
22	chr17:15847600-15849400	Flanking Active TSS	Pancreas	Pancrea
23	chr17:15847600-15849600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr17:15847600-15849600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr17:15847600-15849600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr17:15847600-15849600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr17:15847600-15849600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr17:15847600-15849600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:15847600-15849600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr17:15847600-15849600	Active TSS	Colon Smooth Muscle	Colon
31	chr17:15847600-15849600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
32	chr17:15847600-15849800	Active TSS	HSMM	muscle
33	chr17:15847600-15850000	Enhancers	Fetal Heart	heart
34	chr17:15847600-15850000	Active TSS	NHLF	lung
35	chr17:15847600-15850200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr17:15847600-15850800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr17:15847800-15848200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:15847800-15848200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
39	chr17:15847800-15848200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
40	chr17:15847800-15848200	Flanking Active TSS	Psoas Muscle	Psoas
41	chr17:15847800-15848200	Bivalent Enhancer	GM12878-XiMat	blood
42	chr17:15847800-15848400	Flanking Active TSS	Liver	Liver
43	chr17:15847800-15848400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
44	chr17:15847800-15848600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr17:15847800-15848600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr17:15847800-15848600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr17:15847800-15848600	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr17:15847800-15848600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
49	chr17:15847800-15848600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
50	chr17:15847800-15848600	Active TSS	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links