Variant report

Variant	rs17121536
Chromosome Location	chr1:61518956-61518957
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr1:61518864-61519002	K562	blood:	n/a	n/a
2	SUZ12	chr1:61516340-61521911	NT2-D1	testis:	n/a	n/a
3	POLR2A	chr1:61517310-61519880	K562	blood:	n/a	n/a
4	MAFK	chr1:61518145-61519051	K562	blood:	n/a	chr1:61518447-61518467
5	JUND	chr1:61518787-61518958	H1-hESC	embryonic stem cell:	n/a	n/a
6	TBL1XR1	chr1:61518574-61518956	K562	blood:	n/a	n/a
7	MAZ	chr1:61518574-61520303	K562	blood:	n/a	n/a
8	UBTF	chr1:61515527-61520320	K562	blood:	n/a	n/a
9	BACH1	chr1:61518897-61519092	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr1:61518525-61519055	K562	blood:	n/a	chr1:61518937-61518945
11	IRF1	chr1:61518435-61519885	K562	blood:	n/a	n/a
12	POLR2A	chr1:61518513-61518979	K562	blood:	n/a	n/a
13	POLR2A	chr1:61518426-61519063	K562	blood:	n/a	n/a
14	JUND	chr1:61518597-61518960	K562	blood:	n/a	n/a
15	CTCF	chr1:61518920-61519070	GM06990	blood:	n/a	chr1:61518937-61518945
16	ARID3A	chr1:61518813-61518995	K562	blood:	n/a	n/a
17	POLR2A	chr1:61517560-61520190	PBDE	blood:	n/a	n/a
18	MYC	chr1:61518785-61520123	K562	blood:	n/a	n/a
19	CTCF	chr1:61518820-61518970	HPAF	blood vessel:	n/a	chr1:61518937-61518945
20	SIN3A	chr1:61518636-61519137	H1-hESC	embryonic stem cell:	n/a	chr1:61518772-61518781
21	CTBP2	chr1:61518607-61520606	H1-hESC	embryonic stem cell:	n/a	n/a
22	ZBTB7A	chr1:61518696-61518957	K562	blood:	n/a	n/a
23	POLR2A	chr1:61518550-61518962	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:61513320..61528030-chr1:61539604..61553659,57	K562	blood:
2	chr1:61517191..61519164-chr1:61734299..61735989,2	K562	blood:
3	chr1:61516816..61519561-chr1:61589815..61591722,3	K562	blood:
4	chr1:61516537..61519432-chr1:61648859..61651908,3	K562	blood:
5	chr1:61452182..61454919-chr1:61517153..61519125,2	K562	blood:
6	chr1:61512478..61530748-chr1:61539371..61553659,68	K562	blood:

No data

Variant related genes	Relation type
NFIA	TF binding region
ENSG00000270742	Chromatin interaction
ENSG00000263380	Chromatin interaction
ENSG00000162599	Chromatin interaction

rs_ID	r²[population]
rs12402756	0.84[CEU][hapmap]
rs12404336	0.86[EUR][1000 genomes]
rs12565220	0.91[CEU][hapmap]
rs12568508	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61515400-61520000	Active TSS	Right Atrium	heart
2	chr1:61515600-61520000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr1:61515600-61520200	Active TSS	Psoas Muscle	Psoas
4	chr1:61515800-61520000	Active TSS	Aorta	Aorta
5	chr1:61515800-61520200	Active TSS	Rectal Smooth Muscle	rectum
6	chr1:61515800-61520400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr1:61516600-61519200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:61516800-61519200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr1:61516800-61520400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:61516800-61520600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:61517000-61519000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr1:61517000-61519000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
13	chr1:61517000-61519200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr1:61517000-61519200	Weak transcription	Lung	lung
15	chr1:61517000-61519400	Weak transcription	Gastric	stomach
16	chr1:61517000-61519400	Weak transcription	Pancreas	Pancrea
17	chr1:61517200-61519000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr1:61517200-61519000	Weak transcription	HUVEC	blood vessel
19	chr1:61517200-61519200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr1:61517200-61519200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:61517200-61519200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:61517200-61519200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:61517200-61519200	Weak transcription	Colonic Mucosa	Colon
24	chr1:61517200-61519200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:61517200-61519400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:61517200-61519400	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr1:61517200-61519400	Bivalent Enhancer	Fetal Thymus	thymus
28	chr1:61517200-61519400	Weak transcription	Ovary	ovary
29	chr1:61517200-61520600	Weak transcription	Hela-S3	cervix
30	chr1:61517200-61523800	Active TSS	Fetal Brain Female	brain
31	chr1:61517400-61519000	Enhancers	Fetal Heart	heart
32	chr1:61517400-61519200	Flanking Active TSS	K562	blood
33	chr1:61517400-61519600	Active TSS	Stomach Smooth Muscle	stomach
34	chr1:61517600-61519000	Enhancers	Right Ventricle	heart
35	chr1:61517600-61519200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:61517600-61519600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
37	chr1:61517800-61519000	Enhancers	Left Ventricle	heart
38	chr1:61517800-61519000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr1:61517800-61519200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:61517800-61519200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr1:61517800-61519400	Enhancers	Placenta	Placenta
42	chr1:61518000-61519200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
43	chr1:61518000-61519400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
44	chr1:61518200-61519000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr1:61518200-61519000	Active TSS	Brain Cingulate Gyrus	brain
46	chr1:61518200-61519200	Enhancers	Liver	Liver
47	chr1:61518200-61519200	Bivalent Enhancer	HepG2	liver
48	chr1:61518200-61520200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr1:61518200-61520200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:61518400-61519200	Weak transcription	Colon Smooth Muscle	Colon

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