Variant report

Variant	rs9916301
Chromosome Location	chr17:38020305-38020306
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	POLR2A	chr17:38019552-38022062	GM12891	blood:	n/a	n/a
2	RAD21	chr17:38020286-38020783	HepG2	liver:	n/a	n/a
3	TCF12	chr17:38020295-38020641	GM12878	blood:	n/a	chr17:38020462-38020469
4	CTCF	chr17:38020287-38020780	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP4	chr17:38020305-38020671	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr17:38020280-38020620	SK-N-SH	brain:	n/a	chr17:38020427-38020437
7	RELA	chr17:38019794-38020816	GM18951	blood:	n/a	n/a
8	MAX	chr17:38020069-38020779	HCT-116	colon:	n/a	chr17:38020427-38020437
9	TCF12	chr17:38020051-38020726	A549	lung:	n/a	chr17:38020462-38020469
10	ELF1	chr17:38020273-38020694	GM12878	blood:	n/a	n/a
11	YY1	chr17:38020180-38020735	GM12892	blood:	n/a	chr17:38020504-38020518
12	CREB1	chr17:38020156-38020904	GM12878	blood:	n/a	n/a
13	PAX5	chr17:38020264-38020709	GM12878	blood:	n/a	n/a
14	RAD21	chr17:38020234-38020838	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr17:38020181-38020666	K562	blood:	n/a	chr17:38020427-38020437
16	MAX	chr17:38020185-38020732	ECC-1	luminal epithelium:	n/a	chr17:38020427-38020437
17	KAP1	chr17:38020203-38020784	HEK293	kidney:	n/a	n/a
18	YY1	chr17:38020213-38020606	K562	blood:	n/a	chr17:38020504-38020518
19	MAX	chr17:38020255-38020636	K562	blood:	n/a	chr17:38020427-38020437
20	ZEB1	chr17:38020297-38020683	GM12878	blood:	n/a	n/a
21	POLR2A	chr17:38019648-38022019	GM18505	blood:	n/a	n/a
22	POLR2A	chr17:38019769-38021967	GM18951	blood:	n/a	n/a
23	POLR2A	chr17:38020221-38020738	GM12878	blood:	n/a	n/a
24	CHD2	chr17:38020305-38020626	H1-hESC	embryonic stem cell:	n/a	chr17:38020481-38020491
25	TAF1	chr17:38020164-38020750	GM12878	blood:	n/a	n/a
26	BCLAF1	chr17:38019864-38022044	GM12878	blood:	n/a	n/a
27	POLR2A	chr17:38020082-38020814	GM12891	blood:	n/a	n/a
28	SP1	chr17:38020272-38020718	H1-hESC	embryonic stem cell:	n/a	n/a
29	FOXA1	chr17:38020078-38020473	HepG2	liver:	n/a	chr17:38020244-38020259
30	STAT5A	chr17:38020095-38020737	GM12878	blood:	n/a	n/a
31	ATF2	chr17:38020263-38020561	H1-hESC	embryonic stem cell:	n/a	n/a
32	RELA	chr17:38019691-38020937	GM12891	blood:	n/a	n/a
33	POU2F2	chr17:38020305-38020738	GM12878	blood:	n/a	n/a
34	MAZ	chr17:38020018-38020867	GM12878	blood:	n/a	n/a
35	SIN3A	chr17:38020044-38020753	GM12878	blood:	n/a	n/a
36	MAX	chr17:38020004-38020778	HepG2	liver:	n/a	chr17:38020427-38020437
37	UBTF	chr17:38020239-38020750	K562	blood:	n/a	n/a
38	FOXA2	chr17:38020138-38020378	HepG2	liver:	n/a	n/a
39	POLR2A	chr17:38020196-38020948	GM12891	blood:	n/a	n/a
40	SIN3A	chr17:38020277-38020720	H1-hESC	embryonic stem cell:	n/a	n/a
41	BCL3	chr17:38020213-38020792	GM12878	blood:	n/a	n/a
42	MAX	chr17:38020236-38020667	K562	blood:	n/a	chr17:38020427-38020437
43	PAX5	chr17:38020136-38020731	GM12878	blood:	n/a	n/a
44	CHD1	chr17:38020272-38020457	H1-hESC	embryonic stem cell:	n/a	n/a
45	FOXM1	chr17:38019838-38020923	GM12878	blood:	n/a	n/a
46	FOXA1	chr17:38020095-38020675	HepG2	liver:	n/a	chr17:38020244-38020259
47	TBP	chr17:38019706-38020858	GM12878	blood:	n/a	n/a
48	IKZF1	chr17:38020264-38020723	GM12878	blood:	n/a	n/a
49	RAD21	chr17:38020286-38020702	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr17:38020210-38020625	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38016485..38022109-chr17:38022345..38027890,7	K562	blood:
2	chr17:37893210..37895843-chr17:38018530..38020744,2	MCF-7	breast:

Variant related genes	Relation type
ZPBP2	TF binding region
ENSG00000141738	Chromatin interaction
ENSG00000186075	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs13341681	1.00[AMR][1000 genomes]
rs13380812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28407584	1.00[AMR][1000 genomes]
rs28409251	1.00[AMR][1000 genomes]
rs28432878	1.00[AMR][1000 genomes]
rs28464000	1.00[AMR][1000 genomes]
rs28494476	1.00[AMR][1000 genomes]
rs28498893	1.00[AMR][1000 genomes]
rs28505218	1.00[AMR][1000 genomes]
rs28627663	1.00[AMR][1000 genomes]
rs28661251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28673180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28714172	1.00[AMR][1000 genomes]
rs28882824	1.00[AMR][1000 genomes]
rs61737968	1.00[AMR][1000 genomes]
rs62065168	1.00[AMR][1000 genomes]
rs62065210	1.00[AMR][1000 genomes]
rs9890508	1.00[AMR][1000 genomes]
rs9890819	1.00[AMR][1000 genomes]
rs9893628	1.00[AMR][1000 genomes]
rs9893933	1.00[AMR][1000 genomes]
rs9895237	1.00[AMR][1000 genomes]
rs9896961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9897451	1.00[AMR][1000 genomes]
rs9897847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9899977	1.00[AMR][1000 genomes]
rs9900885	1.00[AMR][1000 genomes]
rs9911163	1.00[AMR][1000 genomes]
rs9913746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9914556	1.00[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	nsv1064787	chr17:37892843-38054410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv543342	chr17:37892843-38054410	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv1795575	chr17:37974075-38041762	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38017400-38021000	Active TSS	Primary T killer memory cells from peripheral blood	blood
2	chr17:38017800-38020600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
3	chr17:38017800-38020800	Active TSS	Primary B cells from cord blood	blood
4	chr17:38017800-38021000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
5	chr17:38017800-38021400	Active TSS	Primary B cells from peripheral blood	blood
6	chr17:38017800-38021400	Active TSS	Primary T cells fromperipheralblood	blood
7	chr17:38017800-38021400	Active TSS	GM12878-XiMat	blood
8	chr17:38018000-38021000	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr17:38018000-38021000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr17:38018200-38021000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr17:38019200-38020800	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr17:38019200-38021000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:38019200-38021000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr17:38019400-38020800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr17:38019600-38021200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:38019600-38021200	Active TSS	Thymus	Thymus
17	chr17:38019800-38020400	Bivalent Enhancer	HepG2	liver
18	chr17:38019800-38020800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:38019800-38020800	Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr17:38019800-38020800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
21	chr17:38019800-38020800	Bivalent/Poised TSS	Small Intestine	intestine
22	chr17:38020000-38020400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr17:38020000-38020400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
24	chr17:38020000-38020400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
25	chr17:38020000-38020400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr17:38020000-38020400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
27	chr17:38020000-38020400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
28	chr17:38020000-38020400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
29	chr17:38020000-38020400	Active TSS	Right Atrium	heart
30	chr17:38020000-38020400	Flanking Bivalent TSS/Enh	A549	lung
31	chr17:38020000-38020400	Bivalent Enhancer	HUVEC	blood vessel
32	chr17:38020000-38020400	Flanking Bivalent TSS/Enh	K562	blood
33	chr17:38020000-38020400	Flanking Bivalent TSS/Enh	NHEK	skin
34	chr17:38020000-38020600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr17:38020000-38020600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr17:38020000-38020600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
37	chr17:38020000-38020600	Bivalent/Poised TSS	Colonic Mucosa	Colon
38	chr17:38020000-38020800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr17:38020000-38020800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr17:38020000-38020800	Bivalent/Poised TSS	Esophagus	oesophagus
41	chr17:38020000-38020800	Bivalent Enhancer	Fetal Intestine Large	intestine
42	chr17:38020000-38020800	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr17:38020000-38020800	Flanking Bivalent TSS/Enh	Sigmoid Colon	Sigmoid Colon
44	chr17:38020000-38020800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
45	chr17:38020000-38021000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
46	chr17:38020000-38021400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr17:38020200-38020400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
48	chr17:38020200-38020400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr17:38020200-38020400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr17:38020200-38020400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood

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