Variant report

Variant	rs17098557
Chromosome Location	chr14:32673428-32673429
allele	A/G
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	NFIC	chr14:32669857-32673593	HepG2	liver:	n/a	chr14:32670734-32670751
2	RFX5	chr14:32672102-32673742	HepG2	liver:	n/a	n/a
3	MAX	chr14:32672399-32673488	SK-N-SH	brain:	n/a	chr14:32672740-32672750
4	ZEB1	chr14:32669719-32673848	HepG2	liver:	n/a	n/a
5	TCF12	chr14:32670008-32673441	A549	lung:	n/a	n/a
6	KAP1	chr14:32670030-32673658	HEK293	kidney:	n/a	n/a
7	MAX	chr14:32669799-32673731	HepG2	liver:	n/a	chr14:32672740-32672750
8	CREB1	chr14:32669939-32673704	HepG2	liver:	n/a	n/a
9	MAX	chr14:32672070-32673666	MCF-7	breast:	n/a	chr14:32672740-32672750
10	POLR2A	chr14:32673291-32673510	K562	blood:	n/a	n/a
11	MXI1	chr14:32670069-32673550	HepG2	liver:	n/a	n/a
12	MAX	chr14:32672060-32673687	A549	lung:	n/a	chr14:32672740-32672750
13	ZEB1	chr14:32669972-32673676	HepG2	liver:	n/a	n/a
14	SIN3A	chr14:32670277-32673546	H1-hESC	embryonic stem cell:	n/a	chr14:32670549-32670559 chr14:32672792-32672801
15	RCOR1	chr14:32672292-32673648	K562	blood:	n/a	n/a
16	RCOR1	chr14:32670350-32673461	HepG2	liver:	n/a	n/a
17	MYBL2	chr14:32669879-32673629	HepG2	liver:	n/a	n/a
18	SREBP2	chr14:32669379-32674149	GM12878	blood:	n/a	n/a
19	MAX	chr14:32671995-32673649	ECC-1	luminal epithelium:	n/a	chr14:32672740-32672750
20	MYC	chr14:32672129-32673488	K562	blood:	n/a	chr14:32672740-32672750
21	CTCF	chr14:32673417-32673470	MCF-7	breast:	n/a	n/a
22	MBD4	chr14:32669896-32673886	HepG2	liver:	n/a	n/a
23	ZBTB7A	chr14:32672442-32673507	HepG2	liver:	n/a	n/a
24	E2F6	chr14:32672590-32673503	A549	lung:	n/a	n/a
25	MBD4	chr14:32669890-32673606	HepG2	liver:	n/a	n/a
26	MXI1	chr14:32669629-32673720	SK-N-SH	brain:	n/a	n/a
27	MYC	chr14:32673401-32673509	MCF-7	breast:	n/a	n/a
28	MYBL2	chr14:32669934-32673803	HepG2	liver:	n/a	n/a
29	E2F6	chr14:32672315-32673515	K562	blood:	n/a	n/a
30	NFIC	chr14:32671955-32673532	HepG2	liver:	n/a	n/a
31	RAD21	chr14:32673248-32673546	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAZ	chr14:32672304-32673459	K562	blood:	n/a	chr14:32672740-32672750
33	MAZ	chr14:32672320-32673439	HepG2	liver:	n/a	chr14:32672740-32672750
34	MAX	chr14:32669914-32673720	HepG2	liver:	n/a	chr14:32672740-32672750
35	ARID3A	chr14:32670008-32673683	HepG2	liver:	n/a	chr14:32671605-32671621
36	POLR2A	chr14:32673370-32673500	MCF-7	breast:	n/a	n/a
37	MAX	chr14:32669930-32673856	A549	lung:	n/a	chr14:32672740-32672750
38	REST	chr14:32671065-32673716	H1-neurons	neurons:	n/a	chr14:32672791-32672801 chr14:32672841-32672854
39	MAX	chr14:32672315-32673437	HepG2	liver:	n/a	chr14:32672740-32672750
40	KAP1	chr14:32670610-32673459	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:32544618..32548147-chr14:32668083..32673759,9	K562	blood:
2	chr14:32672713..32675385-chr14:32675596..32677310,2	MCF-7	breast:
3	chr14:32545768..32548128-chr14:32672317..32675290,2	MCF-7	breast:
4	chr14:32544948..32548496-chr14:32669195..32673537,9	MCF-7	breast:
5	chr14:32673261..32674882-chr14:32699450..32701140,2	MCF-7	breast:
6	chr14:32544500..32547770-chr14:32669959..32673759,8	K562	blood:
7	chr14:32672725..32675021-chr14:32675763..32678202,4	K562	blood:

Variant related genes	Relation type
RNU6-8	TF binding region
ENSG00000258655	Chromatin interaction
ENSG00000100852	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10483396	0.92[MEX][hapmap]
rs11622364	0.91[ASW][hapmap];0.84[CHD][hapmap];0.92[MEX][hapmap]
rs12590282	0.91[ASW][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1887936	0.85[AMR][1000 genomes]
rs1965599	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs34578993	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34579438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35326055	0.91[ASN][1000 genomes]
rs58425212	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59484466	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7149020	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7158235	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]

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	nsv832764	chr14:32564468-32723213	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv3527777	chr14:32669175-32761850	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3527778	chr14:32669175-32761850	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17098557	G2E3	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32669400-32673600	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr14:32669600-32673600	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr14:32669600-32674000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr14:32669800-32673800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:32669800-32673800	Active TSS	Brain Anterior Caudate	brain
6	chr14:32669800-32674000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:32670000-32673600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr14:32670000-32673600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:32670000-32673600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:32670000-32673600	Active TSS	Ovary	ovary
11	chr14:32670000-32673600	Active TSS	Right Atrium	heart
12	chr14:32670000-32673800	Active TSS	Brain Angular Gyrus	brain
13	chr14:32670000-32673800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr14:32670000-32673800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:32670000-32673800	Active TSS	Fetal Muscle Leg	muscle
16	chr14:32670200-32673600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:32670200-32673600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:32670200-32673600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:32670200-32673600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:32670200-32673600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:32670600-32673600	Active TSS	HSMM	muscle
22	chr14:32671000-32673600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:32671600-32673600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr14:32672000-32673600	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr14:32672000-32673600	Active TSS	Brain Germinal Matrix	brain
26	chr14:32672000-32673600	Active TSS	A549	lung
27	chr14:32672000-32673600	Active TSS	HSMMtube	muscle
28	chr14:32672200-32673600	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr14:32672200-32673600	Active TSS	Colon Smooth Muscle	Colon
30	chr14:32672200-32673800	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr14:32672200-32673800	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr14:32672200-32673800	Active TSS	Colonic Mucosa	Colon
33	chr14:32672200-32673800	Active TSS	K562	blood
34	chr14:32672400-32673600	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr14:32672400-32673600	Active TSS	Gastric	stomach
36	chr14:32672400-32673600	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr14:32672800-32673600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr14:32672800-32673600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:32672800-32673600	Bivalent/Poised TSS	NHDF-Ad	bronchial
40	chr14:32672800-32673800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:32672800-32674000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:32673000-32673600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:32673000-32673600	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr14:32673000-32673600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr14:32673000-32673600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr14:32673000-32673600	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr14:32673000-32673600	Flanking Bivalent TSS/Enh	Dnd41	blood
48	chr14:32673000-32673600	Flanking Active TSS	Hela-S3	cervix
49	chr14:32673000-32673600	Flanking Active TSS	NHEK	skin
50	chr14:32673000-32673800	Flanking Active TSS	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links