Variant report

Variant	rs10157500
Chromosome Location	chr1:172536030-172536031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:172535856-172536032	H1-hESC	embryonic stem cell:	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: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10157519	0.89[ASN][1000 genomes]
rs10218613	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10489280	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10752994	0.88[ASN][1000 genomes]
rs10798040	0.91[ASN][1000 genomes]
rs10911856	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10912058	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10912080	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10912083	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10912084	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11805370	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12087284	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12121051	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12146100	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1894625	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2097492	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2097493	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2097494	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2097498	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2157420	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2227188	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2285144	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2422144	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2472550	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2472552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2639621	0.81[EUR][1000 genomes]
rs3752515	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3768444	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4145436	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4433434	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5014539	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6424973	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6425007	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6656713	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6686080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6686157	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6695152	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7525372	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7539231	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7539443	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs763108	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9425646	0.86[ASN][1000 genomes]
rs9943276	0.82[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10157500	SUCO	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 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	chr1:172519200-172559000	Weak transcription	Psoas Muscle	Psoas
5	chr1:172519400-172571600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:172519600-172538000	Weak transcription	Hela-S3	cervix
7	chr1:172519800-172539200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:172521800-172539800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:172521800-172540400	Strong transcription	Primary B cells from cord blood	blood
10	chr1:172521800-172560400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:172523400-172536200	Strong transcription	Primary hematopoietic stem cells	blood
12	chr1:172524000-172538200	Strong transcription	Dnd41	blood
13	chr1:172524000-172538400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:172524000-172540400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr1:172524200-172537400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:172524200-172539600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:172524200-172539600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:172524400-172539000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:172524400-172540000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:172524600-172539800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr1:172524800-172540400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:172525000-172540400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:172525200-172537000	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr1:172526200-172540400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:172526400-172536200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:172526800-172537000	Weak transcription	Fetal Brain Male	brain
27	chr1:172527000-172539600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr1:172527000-172558000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:172527200-172540000	Weak transcription	Colonic Mucosa	Colon
30	chr1:172527800-172536800	Weak transcription	HMEC	breast
31	chr1:172527800-172550400	Weak transcription	Stomach Mucosa	stomach
32	chr1:172527800-172554600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:172528000-172537400	Strong transcription	Primary T cells from cord blood	blood
34	chr1:172528400-172539400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:172528400-172543000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:172528400-172547800	Weak transcription	A549	lung
37	chr1:172528600-172539200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:172528800-172537400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:172529000-172538400	Weak transcription	NHDF-Ad	bronchial
40	chr1:172529200-172539800	Weak transcription	NHLF	lung
41	chr1:172529600-172536600	Weak transcription	Liver	Liver
42	chr1:172529800-172540000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:172530800-172536200	Strong transcription	Lung	lung
44	chr1:172531000-172536400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:172531000-172538600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:172531200-172538400	Weak transcription	Osteobl	bone
47	chr1:172531800-172540400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr1:172532000-172539600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:172532200-172538600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:172532800-172540400	Strong transcription	Placenta	Placenta

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