Variant report

Variant	rs60485575
Chromosome Location	chr1:172528397-172528398
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:172418814..172420487-chr1:172526725..172528500,2	MCF-7	breast:
2	chr1:172527755..172529471-chr1:172533973..172536807,2	K562	blood:
3	chr1:172500697..172503568-chr1:172528002..172531240,3	MCF-7	breast:
4	chr1:172528364..172530709-chr1:172549872..172552272,2	K562	blood:
5	chr1:172417587..172421346-chr1:172527795..172529688,3	MCF-7	breast:
6	chr1:172520150..172522644-chr1:172528070..172530577,3	K562	blood:
7	chr1:172499469..172503029-chr1:172527261..172529453,3	K562	blood:
8	chr1:172500667..172503739-chr1:172526545..172530565,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000180999	Chromatin interaction
ENSG00000094975	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs2472551	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2516063	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35344763	1.00[EUR][1000 genomes]
rs55678532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56001419	1.00[EUR][1000 genomes]
rs56884575	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57117081	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57600271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58097538	1.00[EUR][1000 genomes]
rs58481917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58852323	1.00[EUR][1000 genomes]
rs58899638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60296720	1.00[EUR][1000 genomes]
rs60345777	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61692965	1.00[EUR][1000 genomes]
rs6683359	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73032190	1.00[EUR][1000 genomes]
rs73034011	1.00[EUR][1000 genomes]
rs74124226	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124228	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124231	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124232	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124235	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124242	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124244	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124245	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124248	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124250	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124251	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124253	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124255	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124256	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124257	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124258	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7526530	1.00[EUR][1000 genomes]
rs7538218	1.00[EUR][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172503400-172528600	Weak transcription	Aorta	Aorta
2	chr1:172503400-172528600	Weak transcription	Lung	lung
3	chr1:172503600-172531600	Weak transcription	Esophagus	oesophagus
4	chr1:172503800-172529000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:172503800-172534200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:172506000-172532600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:172506200-172528400	Weak transcription	Fetal Stomach	stomach
8	chr1:172507400-172528600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:172509400-172530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:172511800-172528600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:172511800-172557800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:172512000-172529000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:172512000-172534200	Weak transcription	Gastric	stomach
14	chr1:172514200-172558800	Weak transcription	Small Intestine	intestine
15	chr1:172514800-172528600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:172514800-172530200	Weak transcription	Thymus	Thymus
17	chr1:172515400-172528600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:172516000-172532800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:172516200-172528800	Weak transcription	Pancreas	Pancrea
20	chr1:172516600-172528800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:172516800-172550200	Weak transcription	Fetal Heart	heart
22	chr1:172518000-172529000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:172518600-172533000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:172519000-172530000	Weak transcription	NH-A	brain
25	chr1:172519000-172530200	Weak transcription	Brain Substantia Nigra	brain
26	chr1:172519200-172529000	Weak transcription	Brain Germinal Matrix	brain
27	chr1:172519200-172534600	Weak transcription	Right Ventricle	heart
28	chr1:172519200-172559000	Weak transcription	Psoas Muscle	Psoas
29	chr1:172519400-172529000	Weak transcription	NHEK	skin
30	chr1:172519400-172533000	Weak transcription	HUVEC	blood vessel
31	chr1:172519400-172534600	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:172519400-172535400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:172519400-172571600	Weak transcription	Brain Angular Gyrus	brain
34	chr1:172519600-172528800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:172519600-172533000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:172519600-172533200	Weak transcription	Brain Anterior Caudate	brain
37	chr1:172519600-172538000	Weak transcription	Hela-S3	cervix
38	chr1:172519800-172534200	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:172519800-172539200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr1:172521400-172532800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr1:172521800-172539800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr1:172521800-172540400	Strong transcription	Primary B cells from cord blood	blood
43	chr1:172521800-172560400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:172522400-172528800	Weak transcription	Ovary	ovary
45	chr1:172523400-172531800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:172523400-172532200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr1:172523400-172536200	Strong transcription	Primary hematopoietic stem cells	blood
48	chr1:172524000-172538200	Strong transcription	Dnd41	blood
49	chr1:172524000-172538400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:172524000-172540400	Strong transcription	Primary T cells fromperipheralblood	blood

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