Variant report

Variant	rs578013057
Chromosome Location	chr17:38600105-38600106
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:362)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr17:38599968-38600186	GM12878	blood:	n/a	n/a
2	MYC	chr17:38599940-38600216	MCF-7	breast:	n/a	n/a
3	ELF1	chr17:38599986-38600339	K562	blood:	n/a	n/a
4	MAX	chr17:38598612-38602497	A549	lung:	n/a	chr17:38599856-38599866
5	CTCF	chr17:38600060-38600210	HCM	heart:	n/a	n/a
6	CEBPB	chr17:38600001-38600254	K562	blood:	n/a	chr17:38600149-38600160
7	RAD21	chr17:38599989-38600168	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr17:38600020-38600170	HCM	heart:	n/a	n/a
9	POLR2A	chr17:38599363-38600748	A549	lung:	n/a	n/a
10	CTCF	chr17:38600040-38600190	GM06990	blood:	n/a	n/a
11	E2F6	chr17:38599584-38600309	H1-hESC	embryonic stem cell:	n/a	chr17:38599728-38599737
12	CTCF	chr17:38599912-38600266	HepG2	liver:	n/a	n/a
13	CTCF	chr17:38600020-38600170	HEEpiC	esophagus:	n/a	n/a
14	CHD2	chr17:38600005-38600316	HepG2	liver:	n/a	n/a
15	CTCF	chr17:38599971-38600269	A549	lung:	n/a	n/a
16	CTCF	chr17:38600040-38600190	HMEC	breast:	n/a	n/a
17	RUNX3	chr17:38599945-38600270	GM12878	blood:	n/a	n/a
18	CTCF	chr17:38600040-38600190	AG09319	gingival:	n/a	n/a
19	POLR2A	chr17:38599559-38600771	A549	lung:	n/a	n/a
20	MXI1	chr17:38600018-38600215	GM12878	blood:	n/a	n/a
21	CTCF	chr17:38599942-38600188	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr17:38599962-38600294	K562	blood:	n/a	n/a
23	CTCF	chr17:38599961-38600291	GM12892	blood:	n/a	n/a
24	RAD21	chr17:38599970-38600199	K562	blood:	n/a	n/a
25	TCF12	chr17:38599987-38601074	A549	lung:	n/a	chr17:38600404-38600414
26	CTCF	chr17:38600018-38600205	LNCaP	prostate:	n/a	n/a
27	BCL3	chr17:38600013-38602435	A549	lung:	n/a	n/a
28	CTCF	chr17:38600020-38600170	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr17:38600040-38600190	NHEK	skin:	n/a	n/a
30	SMC3	chr17:38599933-38600285	K562	blood:	n/a	n/a
31	CTCF	chr17:38600020-38600170	HBMEC	blood vessel:	n/a	n/a
32	CEBPB	chr17:38600036-38600436	MCF-7	breast:	n/a	chr17:38600149-38600160
33	MYC	chr17:38599986-38600176	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr17:38599884-38600297	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr17:38600060-38600210	GM12864	blood:	n/a	n/a
36	GABPA	chr17:38599614-38600439	H1-hESC	embryonic stem cell:	n/a	chr17:38599724-38599733 chr17:38599855-38599864
37	GTF2B	chr17:38599982-38600144	K562	blood:	n/a	n/a
38	CEBPB	chr17:38599935-38600378	ECC-1	luminal epithelium:	n/a	chr17:38600149-38600160
39	CTCF	chr17:38600020-38600170	HRE	kidney:	n/a	n/a
40	RAD21	chr17:38600007-38600262	A549	lung:	n/a	n/a
41	CTCF	chr17:38600020-38600170	NHEK	skin:	n/a	n/a
42	CBX3	chr17:38599950-38600346	K562	blood:	n/a	n/a
43	CTCF	chr17:38600080-38600230	HL-60	blood:	n/a	n/a
44	CTCF	chr17:38600040-38600190	GM12875	blood:	n/a	n/a
45	ZNF384	chr17:38600061-38600199	K562	blood:	n/a	n/a
46	CTCF	chr17:38600040-38600190	AoAF	blood vessel:	n/a	n/a
47	MAX	chr17:38599629-38600175	K562	blood:	n/a	chr17:38599856-38599866
48	POLR2A	chr17:38599592-38600150	HepG2	liver:	n/a	n/a
49	CTCF	chr17:38600040-38600190	HPAF	blood vessel:	n/a	n/a
50	RAD21	chr17:38599908-38600287	HepG2	liver:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38461615..38484404-chr17:38597525..38608992,85	MCF-7	breast:
2	chr17:38516138..38520860-chr17:38599243..38602533,5	K562	blood:
3	chr17:38336336..38337866-chr17:38600046..38601570,2	MCF-7	breast:
4	chr17:38571221..38576195-chr17:38597437..38603899,8	K562	blood:
5	chr17:38507026..38508719-chr17:38598987..38601879,2	K562	blood:
6	chr17:38598881..38602329-chr17:38713858..38720847,8	MCF-7	breast:
7	chr17:38518063..38521220-chr17:38597683..38601473,5	MCF-7	breast:
8	chr17:38597908..38601053-chr17:38654458..38659532,5	MCF-7	breast:
9	chr17:38598261..38600683-chr9:136220142..136221734,2	MCF-7	breast:
10	chr17:38255561..38257319-chr17:38599585..38601482,2	K562	blood:
11	chr17:38599719..38603336-chr17:38637091..38642832,5	MCF-7	breast:
12	chr17:38599782..38601968-chr20:52556470..52558647,2	MCF-7	breast:
13	chr17:38517632..38520244-chr17:38599613..38602533,3	K562	blood:
14	chr17:38587973..38589674-chr17:38599835..38601387,2	MCF-7	breast:
15	chr17:38572047..38583621-chr17:38597341..38605150,24	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240125	TF binding region
ENSG00000266208	Chromatin interaction
ENSG00000131746	Chromatin interaction
ENSG00000126353	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000131747	Chromatin interaction
ENSG00000236352	Chromatin interaction
ENSG00000183153	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000126368	Chromatin interaction
ENSG00000148290	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	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3442525	chr17:38598451-38601299	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	esv3384974	chr17:38598726-38601149	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38584600-38600200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr17:38598800-38600800	Active TSS	Brain Angular Gyrus	brain
3	chr17:38598800-38601400	Weak transcription	Hela-S3	cervix
4	chr17:38598800-38601800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr17:38599000-38600200	Bivalent/Poised TSS	Thymus	Thymus
6	chr17:38599000-38600400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr17:38599000-38601200	Active TSS	Fetal Kidney	kidney
8	chr17:38599000-38601600	Active TSS	Esophagus	oesophagus
9	chr17:38599000-38602000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:38599000-38602200	Active TSS	Brain Anterior Caudate	brain
11	chr17:38599000-38602400	Active TSS	Psoas Muscle	Psoas
12	chr17:38599000-38602800	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr17:38599000-38602800	Active TSS	Ovary	ovary
14	chr17:38599200-38600200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:38599200-38600200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr17:38599200-38600200	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr17:38599200-38600200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr17:38599200-38600200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:38599200-38600400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr17:38599200-38600400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr17:38599200-38600800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr17:38599200-38600800	Active TSS	Aorta	Aorta
23	chr17:38599200-38601200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr17:38599200-38601400	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr17:38599200-38601800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr17:38599200-38601800	Enhancers	Fetal Brain Male	brain
27	chr17:38599200-38601800	Active TSS	Rectal Smooth Muscle	rectum
28	chr17:38599200-38602200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr17:38599200-38602400	Active TSS	Lung	lung
30	chr17:38599200-38602800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:38599200-38603000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr17:38599200-38603000	Active TSS	Right Atrium	heart
33	chr17:38599400-38600200	Active TSS	H1 Cell Line	embryonic stem cell
34	chr17:38599400-38600200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:38599400-38600200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr17:38599400-38600200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:38599400-38600200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:38599400-38600200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr17:38599400-38600200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr17:38599400-38600200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr17:38599400-38600200	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr17:38599400-38600200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr17:38599400-38600200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr17:38599400-38600200	Active TSS	Adipose Nuclei	Adipose
45	chr17:38599400-38600200	Active TSS	Brain Germinal Matrix	brain
46	chr17:38599400-38600200	Active TSS	Brain Hippocampus Middle	brain
47	chr17:38599400-38600200	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr17:38599400-38600200	Active TSS	Duodenum Mucosa	Duodenum
49	chr17:38599400-38600200	Enhancers	Fetal Heart	heart
50	chr17:38599400-38600200	Bivalent/Poised TSS	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links