Variant report

Variant	rs73034021
Chromosome Location	chr1:172534595-172534596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:172534594-172535162	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:172534378-172535692	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:172533299..172534999-chr1:172535109..172538092,2	K562	blood:
2	chr1:172530178..172532792-chr1:172534437..172536976,3	K562	blood:
3	chr1:172530178..172532826-chr1:172534437..172536976,3	K562	blood:
4	chr1:172527755..172529471-chr1:172533973..172536807,2	K562	blood:
5	chr1:172520454..172524675-chr1:172533729..172536639,3	K562	blood:
6	chr1:172503248..172504952-chr1:172533651..172536311,2	K562	blood:

No data

Variant related genes	Relation type
SUCO	TF binding region
ENSG00000094975	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs56214947	1.00[AMR][1000 genomes]
rs57241865	1.00[AMR][1000 genomes]
rs60823005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032191	1.00[AMR][1000 genomes]
rs73034014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034027	1.00[AMR][1000 genomes]
rs73034036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034049	1.00[AMR][1000 genomes]
rs73034055	1.00[AMR][1000 genomes]
rs73034058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034068	1.00[AMR][1000 genomes]
rs73034085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034091	1.00[AMR][1000 genomes]
rs73034095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036104	1.00[AMR][1000 genomes]
rs73036106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036126	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872547	chr1:172511969-172545832	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv872548	chr1:172518012-172551724	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172511800-172557800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:172514200-172558800	Weak transcription	Small Intestine	intestine
3	chr1:172516800-172550200	Weak transcription	Fetal Heart	heart
4	chr1:172519200-172534600	Weak transcription	Right Ventricle	heart
5	chr1:172519200-172559000	Weak transcription	Psoas Muscle	Psoas
6	chr1:172519400-172534600	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:172519400-172535400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:172519400-172571600	Weak transcription	Brain Angular Gyrus	brain
9	chr1:172519600-172538000	Weak transcription	Hela-S3	cervix
10	chr1:172519800-172539200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:172521800-172539800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:172521800-172540400	Strong transcription	Primary B cells from cord blood	blood
13	chr1:172521800-172560400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:172523400-172536200	Strong transcription	Primary hematopoietic stem cells	blood
15	chr1:172524000-172538200	Strong transcription	Dnd41	blood
16	chr1:172524000-172538400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:172524000-172540400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr1:172524200-172537400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:172524200-172539600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:172524200-172539600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:172524400-172535200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:172524400-172535800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:172524400-172539000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:172524400-172540000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:172524600-172539800	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:172524800-172540400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:172525000-172536000	Strong transcription	Fetal Thymus	thymus
28	chr1:172525000-172540400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:172525200-172537000	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr1:172526200-172540400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:172526400-172535400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:172526400-172536000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr1:172526400-172536200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:172526800-172537000	Weak transcription	Fetal Brain Male	brain
35	chr1:172527000-172539600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr1:172527000-172558000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:172527200-172540000	Weak transcription	Colonic Mucosa	Colon
38	chr1:172527600-172536000	Strong transcription	Fetal Muscle Leg	muscle
39	chr1:172527800-172536800	Weak transcription	HMEC	breast
40	chr1:172527800-172550400	Weak transcription	Stomach Mucosa	stomach
41	chr1:172527800-172554600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:172528000-172535000	Weak transcription	Fetal Kidney	kidney
43	chr1:172528000-172537400	Strong transcription	Primary T cells from cord blood	blood
44	chr1:172528200-172534800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:172528400-172535800	Strong transcription	Fetal Stomach	stomach
46	chr1:172528400-172539400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:172528400-172543000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:172528400-172547800	Weak transcription	A549	lung
49	chr1:172528600-172539200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:172528800-172535400	Strong transcription	Left Ventricle	heart

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