Variant report

Variant	rs4561532
Chromosome Location	chr17:66510136-66510137
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	TCF7L2	chr17:66509189-66510763	HEK293	kidney:	n/a	n/a
2	POLR2A	chr17:66507642-66510297	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr17:66507543-66510391	MCF10A-Er-Src	breast:	n/a	n/a
4	CUX1	chr17:66509990-66510174	K562	blood:	n/a	n/a
5	MXI1	chr17:66506146-66510554	SK-N-SH	brain:	n/a	chr17:66508093-66508102 chr17:66508484-66508499 chr17:66508095-66508104
6	CHD1	chr17:66507161-66511463	IMR90	lung:	n/a	n/a
7	MXI1	chr17:66507120-66510871	IMR90	lung:	n/a	chr17:66508093-66508102 chr17:66508484-66508499 chr17:66508095-66508104
8	FOS	chr17:66510120-66510351	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr17:66507604-66510448	MCF10A-Er-Src	breast:	n/a	n/a
10	HCFC1	chr17:66507322-66510244	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr17:66506962-66511766	IMR90	lung:	n/a	n/a
12	SIN3AK20	chr17:66507257-66510385	MCF-7	breast:	n/a	n/a
13	POLR2A	chr17:66507452-66510352	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr17:66508178-66510376	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:65820674..65823268-chr17:66508486..66510670,2	MCF-7	breast:
2	chr17:66507304..66510193-chr5:1344921..1346652,2	MCF-7	breast:
3	chr17:66507070..66510931-chr17:66511371..66513422,6	K562	blood:
4	chr17:66507858..66510140-chr17:66521050..66524441,3	K562	blood:
5	chr17:66451996..66456192-chr17:66506725..66511948,5	MCF-7	breast:
6	chr17:66452513..66457853-chr17:66506674..66510981,7	MCF-7	breast:
7	chr17:66509822..66512031-chr17:66520719..66523833,3	K562	blood:
8	chr17:66509250..66511874-chr17:66538190..66540879,2	MCF-7	breast:

Variant related genes	Relation type
PRKAR1A	TF binding region
ENSG00000108946	Chromatin interaction
ENSG00000070540	Chromatin interaction
ENSG00000049656	Chromatin interaction
ENSG00000171634	Chromatin interaction
ENSG00000269657	Chromatin interaction
ENSG00000108950	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10468445	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286558	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2302230	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302231	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28521534	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2907373	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2907374	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952271	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952275	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4265886	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217296	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219227	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8076465	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66507200-66510400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr17:66507200-66510400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr17:66507200-66510800	Active TSS	GM12878-XiMat	blood
4	chr17:66507200-66511400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr17:66507400-66510200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr17:66507400-66510200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr17:66507400-66510200	Active TSS	Brain Cingulate Gyrus	brain
8	chr17:66507400-66510400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr17:66507400-66510400	Active TSS	Muscle Satellite Cultured Cells	--
10	chr17:66507400-66510600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:66507400-66510600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr17:66507400-66511000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:66507400-66511000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr17:66507400-66511000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr17:66507400-66511400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:66507400-66513600	Active TSS	Right Ventricle	heart
17	chr17:66507600-66510200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr17:66507600-66510200	Active TSS	Fetal Kidney	kidney
19	chr17:66507600-66510400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr17:66507600-66510400	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr17:66507600-66510400	Active TSS	Fetal Intestine Large	intestine
22	chr17:66507600-66510400	Active TSS	Hela-S3	cervix
23	chr17:66507600-66510600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr17:66507600-66510800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr17:66507600-66510800	Active TSS	NHDF-Ad	bronchial
26	chr17:66507600-66511000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr17:66507600-66511200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr17:66507600-66511200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr17:66507600-66511200	Active TSS	Left Ventricle	heart
30	chr17:66507600-66511400	Active TSS	Aorta	Aorta
31	chr17:66507600-66511600	Active TSS	Ovary	ovary
32	chr17:66507800-66510200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr17:66507800-66510200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr17:66507800-66510200	Active TSS	Placenta	Placenta
35	chr17:66507800-66510400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr17:66507800-66510400	Active TSS	Fetal Intestine Small	intestine
37	chr17:66507800-66510400	Active TSS	Fetal Stomach	stomach
38	chr17:66507800-66510400	Active TSS	Osteobl	bone
39	chr17:66507800-66510600	Active TSS	NH-A	brain
40	chr17:66507800-66510600	Active TSS	NHEK	skin
41	chr17:66507800-66510800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr17:66507800-66510800	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr17:66507800-66511000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:66507800-66511000	Active TSS	Fetal Muscle Trunk	muscle
45	chr17:66507800-66511000	Active TSS	Fetal Muscle Leg	muscle
46	chr17:66507800-66511000	Active TSS	Psoas Muscle	Psoas
47	chr17:66507800-66511000	Active TSS	HMEC	breast
48	chr17:66507800-66511000	Active TSS	K562	blood
49	chr17:66507800-66511200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:66507800-66511200	Active TSS	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links