Variant report

Variant	rs7501448
Chromosome Location	chr17:33867809-33867810
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr17:33867539-33868305	GM12878	blood:	n/a	n/a
2	EBF1	chr17:33867549-33867986	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:33867578-33868314	GM12892	blood:	n/a	n/a
4	POLR2A	chr17:33867473-33868330	GM12892	blood:	n/a	n/a
5	POLR2A	chr17:33867742-33867848	A549	lung:	n/a	n/a
6	POLR2A	chr17:33867545-33868225	HL-60	blood:	n/a	n/a
7	POLR2A	chr17:33867532-33868013	GM12878	blood:	n/a	n/a
8	POLR2A	chr17:33867638-33867893	GM12878	blood:	n/a	n/a
9	SPI1	chr17:33867710-33867984	GM12878	blood:	n/a	n/a
10	MAX	chr17:33867638-33868073	NB4	blood:	n/a	n/a
11	TBP	chr17:33867550-33868650	GM12878	blood:	n/a	n/a
12	IRF1	chr17:33867194-33868777	K562	blood:	n/a	chr17:33868262-33868273 chr17:33868261-33868275 chr17:33868255-33868276 chr17:33868257-33868271 chr17:33868260-33868272 chr17:33868260-33868272 chr17:33868258-33868272 chr17:33868259-33868272 chr17:33868261-33868271 chr17:33868260-33868277 chr17:33868261-33868272
13	POLR2A	chr17:33867625-33867885	GM12878	blood:	n/a	n/a
14	POLR2A	chr17:33867762-33867881	Gliobla	brain:	n/a	n/a
15	BHLHE40	chr17:33867630-33868349	GM12878	blood:	n/a	n/a
16	SPI1	chr17:33867667-33868036	GM12891	blood:	n/a	n/a
17	POLR2A	chr17:33867788-33868472	U87	brain:	n/a	n/a
18	EBF1	chr17:33867593-33868212	GM12878	blood:	n/a	n/a
19	POLR2A	chr17:33867491-33868334	GM12878	blood:	n/a	n/a
20	BHLHE40	chr17:33867767-33867861	K562	blood:	n/a	n/a
21	SPI1	chr17:33867726-33867873	GM12878	blood:	n/a	n/a
22	EBF1	chr17:33867599-33867883	GM12878	blood:	n/a	n/a
23	SPI1	chr17:33867685-33867995	GM12891	blood:	n/a	n/a
24	YY1	chr17:33867593-33868195	GM12878	blood:	n/a	n/a
25	SPI1	chr17:33867724-33867888	K562	blood:	n/a	n/a
26	POLR2A	chr17:33867564-33868341	GM12892	blood:	n/a	n/a
27	POLR2A	chr17:33867525-33868090	HL-60	blood:	n/a	n/a
28	SPI1	chr17:33867541-33868127	HL-60	blood:	n/a	n/a
29	POLR2A	chr17:33867478-33868382	GM12878	blood:	n/a	n/a
30	REST	chr17:33867559-33868415	HL-60	blood:	n/a	n/a
31	POLR2A	chr17:33867514-33868317	GM12892	blood:	n/a	n/a
32	MTA3	chr17:33867537-33868355	GM12878	blood:	n/a	n/a
33	SPI1	chr17:33867701-33868121	HL-60	blood:	n/a	n/a
34	CTCF	chr17:33867804-33867811	Spleen_OC	spleen:	n/a	n/a
35	YY1	chr17:33867652-33868014	GM12892	blood:	n/a	n/a
36	POLR2A	chr17:33867474-33868399	GM12892	blood:	n/a	n/a
37	CEBPB	chr17:33867721-33867896	K562	blood:	n/a	n/a
38	MYC	chr17:33867642-33868250	NB4	blood:	n/a	n/a
39	POLR2A	chr17:33867795-33868398	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:33867795-33867845	GM12878	blood:	n/a
2	chr17:33867795-33867845	GM06990	blood:	n/a
3	chr17:33867795-33867845	PFSK-1	brain:	n/a
4	chr17:33867795-33867845	SK-N-MC	brain:	n/a
5	chr17:33867795-33867845	Caco-2	colon:	n/a
6	chr17:33867795-33867845	HAEpiC	amniotic membrane:	n/a
7	chr17:33867795-33867845	AG04450	lung:	fetal
8	chr17:33867795-33867845	HCM	heart:	n/a
9	chr17:33867795-33867845	NT2-D1	testis:	n/a
10	chr17:33867795-33867845	GM12892	blood:	n/a
11	chr17:33867795-33867845	HNPCEpiC	eye:	n/a
12	chr17:33867795-33867845	HUVEC	blood vessel:	n/a
13	chr17:33867795-33867845	SAEC	small airway:	n/a
14	chr17:33867795-33867845	ProgFib	skin:	n/a
15	chr17:33867795-33867845	HRPEpiC	eye:	n/a
16	chr17:33867795-33867845	NHBE	bronchial:	n/a
17	chr17:33867795-33867845	SKMC	muscle:	n/a
18	chr17:33867795-33867845	ovcar-3	ovarian:	n/a
19	chr17:33867795-33867845	T-47D	breast:	n/a
20	chr17:33867795-33867845	NH-A	brain:	n/a
21	chr17:33867795-33867845	GM12891	blood:	n/a
22	chr17:33867795-33867845	HRE	kidney:	n/a
23	chr17:33867795-33867845	HCPEpiC	choroid plexus:	n/a
24	chr17:33867795-33867845	HMEC	breast:	n/a
25	chr17:33867795-33867845	LNCaP	prostate:	n/a
26	chr17:33867795-33867845	GM19239	blood:	n/a
27	chr17:33867795-33867845	HIPEpiC	eye:	n/a
28	chr17:33867795-33867845	NHDF-neo	bronchial:	n/a
29	chr17:33867795-33867845	BE2_C	brain:	n/a
30	chr17:33867795-33867845	CMK	blood:	n/a
31	chr17:33867795-33867845	HRCEpiC	kidney:	n/a
32	chr17:33867795-33867845	MCF10A-Er-Src	breast:	n/a
33	chr17:33867795-33867845	SK-N-SH	brain:	n/a
34	chr17:33867795-33867845	A549	lung:	n/a
35	chr17:33867795-33867845	Hela-S3	cervix:	n/a
36	chr17:33867795-33867845	HepG2	liver:	n/a
37	chr17:33867795-33867845	HCT-116	colon:	n/a
38	chr17:33867795-33867845	PrEC	prostate:	n/a
39	chr17:33867795-33867845	Jurkat	blood:	n/a
40	chr17:33867795-33867845	AG09309	skin:	n/a
41	chr17:33867795-33867845	PANC-1	pancreas:	n/a
42	chr17:33867795-33867845	ECC-1	luminal epithelium:	n/a
43	chr17:33867795-33867845	HPAEpiC	pulmonary alveolar:	n/a
44	chr17:33867795-33867845	IMR90	lung:	fetal
45	chr17:33867795-33867845	K562	blood:	n/a
46	chr17:33867795-33867845	RPTEC	kidney:	n/a
47	chr17:33867795-33867845	AoSMC	blood vessel:	n/a
48	chr17:33867795-33867845	NB4	blood:	n/a
49	chr17:33867795-33867845	HL-60	blood:	n/a
50	chr17:33867795-33867845	HEK293	kidney:	embryo

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:33865333..33868494-chr17:33903936..33906030,4	K562	blood:
2	chr17:33463726..33465854-chr17:33866569..33869012,2	K562	blood:
3	chr17:33865333..33867975-chr17:33904009..33907160,3	K562	blood:
4	chr17:33865496..33867936-chr17:33913565..33917669,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLFN12L-1	chr17:33867725-33867816	ENSG00000267035.1

No data

Variant related genes	Relation type
SLFN12L	TF binding region
SLFN12L	CpG island
ENSG00000073536	Chromatin interaction
ENSG00000108733	Chromatin interaction
ENSG00000006125	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10068	0.83[CEU][hapmap]
rs11080353	0.83[CEU][hapmap]
rs11080354	0.83[CEU][hapmap]
rs4795082	0.83[CEU][hapmap]
rs7221322	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8065286	0.82[AMR][1000 genomes]
rs8073060	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv574754	chr17:33841737-33881631	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7501448	AP2B1	cis	Muscle Skeletal	GTEx
rs7501448	LOC645744	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33862800-33869400	Weak transcription	Spleen	Spleen
2	chr17:33864600-33868000	Enhancers	Fetal Thymus	thymus
3	chr17:33865400-33868000	Weak transcription	Fetal Stomach	stomach
4	chr17:33866000-33868000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:33866000-33869800	Enhancers	Lung	lung
6	chr17:33866400-33868000	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr17:33866400-33868000	Enhancers	Stomach Mucosa	stomach
8	chr17:33866400-33868400	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr17:33866600-33868000	Bivalent Enhancer	Fetal Lung	lung
10	chr17:33866600-33868600	Active TSS	Duodenum Mucosa	Duodenum
11	chr17:33866800-33868000	Weak transcription	Ovary	ovary
12	chr17:33866800-33868000	Enhancers	HSMM	muscle
13	chr17:33866800-33868600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:33867000-33868000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:33867000-33868000	Weak transcription	Brain Hippocampus Middle	brain
16	chr17:33867000-33868000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr17:33867000-33868000	Enhancers	A549	lung
18	chr17:33867000-33868000	Enhancers	K562	blood
19	chr17:33867000-33868600	Enhancers	Hela-S3	cervix
20	chr17:33867400-33868000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr17:33867400-33868800	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr17:33867400-33868800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:33867600-33868000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:33867600-33868000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:33867600-33868000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr17:33867600-33868200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr17:33867600-33868200	Active TSS	Brain Angular Gyrus	brain
28	chr17:33867600-33868200	Enhancers	Gastric	stomach
29	chr17:33867600-33868200	Enhancers	Left Ventricle	heart
30	chr17:33867600-33868400	Active TSS	Colon Smooth Muscle	Colon
31	chr17:33867600-33868600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr17:33867600-33868800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr17:33867600-33868800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:33867600-33869000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr17:33867600-33869000	Active TSS	Rectal Smooth Muscle	rectum
36	chr17:33867600-33869000	Flanking Active TSS	Dnd41	blood
37	chr17:33867800-33868000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:33867800-33868000	Active TSS	Primary T cells fromperipheralblood	blood
39	chr17:33867800-33868000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr17:33867800-33868000	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr17:33867800-33868000	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr17:33867800-33868000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr17:33867800-33868000	Active TSS	Liver	Liver
44	chr17:33867800-33868000	Enhancers	NHDF-Ad	bronchial
45	chr17:33867800-33868000	Enhancers	NHLF	lung
46	chr17:33867800-33868000	Active TSS	Osteobl	bone
47	chr17:33867800-33868200	Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr17:33867800-33868200	Active TSS	Psoas Muscle	Psoas
49	chr17:33867800-33868200	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr17:33867800-33868200	Active TSS	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links