Variant report

Variant	rs17244708
Chromosome Location	chr5:74631847-74631848
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	chr5:74631634-74633506	GM12878	blood:	n/a	n/a
2	RFX5	chr5:74631731-74634553	SK-N-SH	brain:	n/a	chr5:74632911-74632926 chr5:74632911-74632926 chr5:74631973-74631981
3	POLR2A	chr5:74631825-74635078	MCF10A-Er-Src	breast:	n/a	n/a
4	MXI1	chr5:74631805-74634379	IMR90	lung:	n/a	chr5:74632912-74632927
5	BRCA1	chr5:74631776-74633117	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr5:74631812-74633179	A549	lung:	n/a	n/a
7	POLR2A	chr5:74631842-74634349	Hela-S3	cervix:	n/a	n/a
8	MTA3	chr5:74631798-74633449	GM12878	blood:	n/a	n/a
9	MBD4	chr5:74631774-74633179	HepG2	liver:	n/a	n/a
10	FOXA2	chr5:74631677-74632251	A549	lung:	n/a	n/a
11	ARID3A	chr5:74631308-74633082	HepG2	liver:	n/a	n/a
12	MXI1	chr5:74631714-74635061	SK-N-SH	brain:	n/a	chr5:74632912-74632927
13	FOXA1	chr5:74631845-74632291	HepG2	liver:	n/a	n/a
14	REST	chr5:74631514-74635189	H1-neurons	neurons:	n/a	chr5:74633899-74633919 chr5:74634974-74634983 chr5:74633899-74633919 chr5:74633905-74633919 chr5:74633939-74633948 chr5:74633163-74633173 chr5:74633899-74633919 chr5:74633900-74633918
15	MAZ	chr5:74631672-74634011	IMR90	lung:	n/a	n/a
16	FOXA1	chr5:74631732-74632290	HepG2	liver:	n/a	n/a
17	POLR2A	chr5:74631807-74633420	HepG2	liver:	n/a	n/a
18	POLR2A	chr5:74631761-74633924	SK-N-MC	brain:	n/a	n/a
19	FOXA1	chr5:74631773-74632237	HepG2	liver:	n/a	n/a
20	FOXA2	chr5:74631817-74632345	A549	lung:	n/a	n/a
21	MYBL2	chr5:74631774-74633136	HepG2	liver:	n/a	chr5:74631976-74631991
22	POLR2A	chr5:74631820-74634017	H1-neurons	neurons:	n/a	n/a
23	FOXA1	chr5:74631745-74632288	HepG2	liver:	n/a	n/a
24	POLR2A	chr5:74631833-74635019	GM12891	blood:	n/a	n/a
25	HEY1	chr5:74631828-74633443	HepG2	liver:	n/a	chr5:74633161-74633176 chr5:74633151-74633166
26	SIN3AK20	chr5:74631808-74633847	MCF-7	breast:	n/a	n/a
27	POLR2A	chr5:74630261-74635036	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:74631027..74633689-chr5:74669899..74673257,3	MCF-7	breast:
2	chr5:74630713..74633733-chr5:74805590..74808087,5	MCF-7	breast:
3	chr5:74623256..74625820-chr5:74629134..74632022,2	K562	blood:

Variant related genes	Relation type
HMGCR	TF binding region
ENSG00000113163	Chromatin interaction
ENSG00000122008	Chromatin interaction
ENSG00000242198	Chromatin interaction

rs_ID	r²[population]
rs17244932	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7708473	1.00[AMR][1000 genomes]

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74619400-74632200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:74621000-74632200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:74628400-74632000	Weak transcription	Stomach Mucosa	stomach
4	chr5:74631000-74632000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr5:74631200-74632000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr5:74631200-74632000	Enhancers	Fetal Intestine Small	intestine
7	chr5:74631400-74632000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:74631400-74632000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:74631400-74632000	Enhancers	Liver	Liver
10	chr5:74631400-74632000	Enhancers	Hela-S3	cervix
11	chr5:74631400-74632400	Flanking Active TSS	K562	blood
12	chr5:74631600-74632000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:74631600-74632000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:74631600-74632200	Active TSS	HepG2	liver
15	chr5:74631800-74632000	Active TSS	H1 Cell Line	embryonic stem cell
16	chr5:74631800-74632000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:74631800-74632000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:74631800-74632000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr5:74631800-74632000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:74631800-74632000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr5:74631800-74632000	Enhancers	Primary B cells from peripheral blood	blood
22	chr5:74631800-74632000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:74631800-74632000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr5:74631800-74632000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr5:74631800-74632000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr5:74631800-74632000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:74631800-74632000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr5:74631800-74632000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:74631800-74632000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr5:74631800-74632000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr5:74631800-74632000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr5:74631800-74632000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:74631800-74632000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:74631800-74632000	Enhancers	Adipose Nuclei	Adipose
35	chr5:74631800-74632000	Enhancers	Brain Cingulate Gyrus	brain
36	chr5:74631800-74632000	Enhancers	Brain Hippocampus Middle	brain
37	chr5:74631800-74632000	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr5:74631800-74632000	Active TSS	Fetal Brain Female	brain
39	chr5:74631800-74632000	Enhancers	Fetal Heart	heart
40	chr5:74631800-74632000	Enhancers	Fetal Intestine Large	intestine
41	chr5:74631800-74632000	Enhancers	Fetal Lung	lung
42	chr5:74631800-74632000	Enhancers	Fetal Thymus	thymus
43	chr5:74631800-74632000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr5:74631800-74632000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr5:74631800-74632000	Enhancers	Stomach Smooth Muscle	stomach
46	chr5:74631800-74632000	Active TSS	Thymus	Thymus
47	chr5:74631800-74632000	Enhancers	HUVEC	blood vessel
48	chr5:74631800-74632000	Enhancers	NH-A	brain
49	chr5:74631800-74632200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr5:74631800-74632200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links