Variant report

Variant	rs62382170
Chromosome Location	chr5:154214232-154214233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr5:154214132-154214999	K562	blood:	n/a	n/a
2	CREB1	chr5:154214168-154215226	K562	blood:	n/a	n/a
3	GATA1	chr5:154213995-154215358	K562	blood:	n/a	n/a
4	CTCF	chr5:154214133-154214731	K562	blood:	n/a	n/a
5	REST	chr5:154214225-154214927	K562	blood:	n/a	chr5:154214330-154214339 chr5:154214333-154214341
6	TAL1	chr5:154214213-154215177	K562	blood:	n/a	chr5:154214660-154214678
7	REST	chr5:154214221-154214450	H1-hESC	embryonic stem cell:	n/a	chr5:154214330-154214339 chr5:154214333-154214341
8	POLR2A	chr5:154214198-154214992	PBDE	blood:	n/a	n/a
9	ZNF384	chr5:154213817-154215222	K562	blood:	n/a	n/a
10	REST	chr5:154214160-154215154	K562	blood:	n/a	chr5:154214330-154214339 chr5:154214333-154214341
11	CUX1	chr5:154214226-154215153	K562	blood:	n/a	n/a
12	RCOR1	chr5:154214135-154215196	K562	blood:	n/a	n/a
13	IRF1	chr5:154214083-154215121	K562	blood:	n/a	n/a
14	EP300	chr5:154214143-154215162	K562	blood:	n/a	n/a
15	POLR2A	chr5:154214229-154215205	K562	blood:	n/a	n/a
16	TRIM28	chr5:154214112-154215222	K562	blood:	n/a	n/a
17	MXI1	chr5:154213961-154215363	SK-N-SH	brain:	n/a	n/a
18	TBL1XR1	chr5:154214093-154215190	K562	blood:	n/a	n/a
19	ZNF263	chr5:154214135-154215204	HEK293-T-REx	kidney:	n/a	n/a
20	CBX3	chr5:154214218-154215153	K562	blood:	n/a	n/a
21	TBP	chr5:154214225-154215131	K562	blood:	n/a	n/a
22	TEAD4	chr5:154214221-154215185	K562	blood:	n/a	n/a
23	GATA1	chr5:154214038-154215165	PBDE	blood:	n/a	n/a
24	ZBTB7A	chr5:154214184-154214607	K562	blood:	n/a	n/a
25	NR2F2	chr5:154213865-154215069	K562	blood:	n/a	n/a
26	CTCF	chr5:154214200-154214350	HepG2	liver:	n/a	n/a
27	MYC	chr5:154214126-154215162	K562	blood:	n/a	n/a
28	FOXA2	chr5:154213336-154214459	HepG2	liver:	n/a	n/a
29	POLR2A	chr5:154214123-154215151	K562	blood:	n/a	n/a
30	POLR2A	chr5:154214123-154215242	SK-N-MC	brain:	n/a	n/a
31	TEAD4	chr5:154214009-154215218	K562	blood:	n/a	n/a
32	CTCF	chr5:154214220-154214370	BE2_C	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:154209594..154211615-chr5:154213176..154215007,2	K562	blood:
2	chr5:154207634..154212086-chr5:154212438..154216728,14	MCF-7	breast:
3	chr5:154205913..154219158-chr5:154234172..154242635,38	MCF-7	breast:
4	chr5:154212721..154214972-chr5:154234901..154239444,4	K562	blood:
5	chr5:154214026..154216712-chr5:154234654..154237422,2	K562	blood:

No data

Variant related genes	Relation type
FAXDC2	TF binding region
ENSG00000170271	Chromatin interaction
ENSG00000155508	Chromatin interaction
ENSG00000263361	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs62382173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62382193	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62382246	0.82[EUR][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	nsv830521	chr5:154147567-154244266	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154195600-154214400	Weak transcription	Small Intestine	intestine
2	chr5:154196000-154229200	Weak transcription	Psoas Muscle	Psoas
3	chr5:154197600-154214400	Weak transcription	HUVEC	blood vessel
4	chr5:154197800-154214400	Weak transcription	Hela-S3	cervix
5	chr5:154199400-154214400	Weak transcription	Right Atrium	heart
6	chr5:154200200-154214400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:154201000-154228000	Weak transcription	Fetal Brain Male	brain
8	chr5:154203400-154229000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:154203600-154214400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:154204200-154214400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:154204400-154214400	Weak transcription	Brain Germinal Matrix	brain
12	chr5:154209400-154214400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:154210000-154214400	Weak transcription	Colonic Mucosa	Colon
14	chr5:154210200-154214600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:154210200-154229000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:154210400-154214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:154210600-154214400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:154210600-154215000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:154210800-154214400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:154210800-154214400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:154210800-154229000	Weak transcription	Fetal Kidney	kidney
22	chr5:154210800-154229800	Weak transcription	Fetal Thymus	thymus
23	chr5:154211000-154216600	Weak transcription	Fetal Lung	lung
24	chr5:154211200-154214400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:154211200-154217200	Weak transcription	Spleen	Spleen
26	chr5:154211400-154214400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:154211400-154214400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:154211400-154214400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:154211400-154214400	Weak transcription	Brain Angular Gyrus	brain
30	chr5:154211400-154214400	Weak transcription	Brain Substantia Nigra	brain
31	chr5:154211400-154214400	Weak transcription	Esophagus	oesophagus
32	chr5:154211400-154214400	Weak transcription	Fetal Stomach	stomach
33	chr5:154211400-154214400	Weak transcription	Gastric	stomach
34	chr5:154211400-154214400	Weak transcription	NHLF	lung
35	chr5:154211400-154217400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:154211400-154221600	Weak transcription	Thymus	Thymus
37	chr5:154211400-154228800	Weak transcription	Fetal Brain Female	brain
38	chr5:154211400-154229400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr5:154211400-154229400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:154211400-154229800	Weak transcription	Pancreas	Pancrea
41	chr5:154211400-154235800	Weak transcription	Dnd41	blood
42	chr5:154211600-154214400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:154211600-154214400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr5:154211600-154220400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr5:154211600-154220600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:154211800-154222600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:154211800-154229000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:154211800-154229200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:154212000-154214400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:154212200-154215800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links