Variant report

Variant	rs7525880
Chromosome Location	chr1:94031988-94031989
allele	C/G
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	chr1:94009051..94012452-chr1:94031131..94034191,3	K562	blood:
2	chr1:94029657..94032130-chr1:94170666..94173622,2	K562	blood:
3	chr1:93912737..93915028-chr1:94030798..94033123,2	MCF-7	breast:
4	chr1:94030537..94032103-chr1:94042791..94044615,2	K562	blood:
5	chr1:94031565..94034150-chr1:94311941..94313768,2	MCF-7	breast:
6	chr1:94021702..94024985-chr1:94029081..94032053,4	K562	blood:
7	chr1:93912275..93915051-chr1:94031554..94034394,3	MCF-7	breast:
8	chr1:93952150..93954485-chr1:94031536..94034425,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000211575	Chromatin interaction
ENSG00000212601	Chromatin interaction
ENSG00000137942	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11576435	1.00[ASN][1000 genomes]
rs11577352	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579004	1.00[ASN][1000 genomes]
rs11579685	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580965	1.00[ASN][1000 genomes]
rs11588860	1.00[ASN][1000 genomes]
rs12066343	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073093	1.00[ASN][1000 genomes]
rs12090736	1.00[ASN][1000 genomes]
rs12732557	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12739747	1.00[ASN][1000 genomes]
rs12740779	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12757325	1.00[ASN][1000 genomes]
rs12760092	1.00[ASN][1000 genomes]
rs17110063	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110101	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110111	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110225	1.00[ASN][1000 genomes]
rs17110370	1.00[ASN][1000 genomes]
rs1877603	1.00[ASN][1000 genomes]
rs1877604	1.00[ASN][1000 genomes]
rs1891138	1.00[ASN][1000 genomes]
rs2818163	1.00[ASN][1000 genomes]
rs34183660	1.00[ASN][1000 genomes]
rs34423897	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34663884	1.00[ASN][1000 genomes]
rs34666525	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34726063	1.00[ASN][1000 genomes]
rs35126293	1.00[ASN][1000 genomes]
rs35691338	1.00[ASN][1000 genomes]
rs35896714	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35972761	1.00[ASN][1000 genomes]
rs36115605	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3950119	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59996315	1.00[ASN][1000 genomes]
rs61780979	1.00[ASN][1000 genomes]
rs61780999	1.00[ASN][1000 genomes]
rs6660968	1.00[ASN][1000 genomes]
rs6666778	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677770	1.00[ASN][1000 genomes]
rs6679609	1.00[ASN][1000 genomes]
rs6683296	1.00[ASN][1000 genomes]
rs66966060	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67043929	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67300695	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67354439	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67511232	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71652539	1.00[ASN][1000 genomes]
rs72721041	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511890	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531106	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543098	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543734	0.93[EUR][1000 genomes]
rs7543763	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553185	1.00[ASN][1000 genomes]
rs7555302	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761802	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv1011853	chr1:93966450-94039005	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93973400-94032000	Weak transcription	Esophagus	oesophagus
2	chr1:93995000-94045000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:94018600-94037400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:94019000-94032000	Weak transcription	Brain Germinal Matrix	brain
5	chr1:94019200-94037400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:94020200-94034200	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:94020800-94033200	Weak transcription	Psoas Muscle	Psoas
8	chr1:94020800-94050600	Weak transcription	Fetal Thymus	thymus
9	chr1:94021000-94032600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:94021000-94041200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:94022200-94044200	Weak transcription	Small Intestine	intestine
12	chr1:94024000-94044200	Strong transcription	HSMM	muscle
13	chr1:94024200-94032800	Strong transcription	A549	lung
14	chr1:94024400-94040200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:94024600-94033200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:94024800-94032800	Strong transcription	HMEC	breast
17	chr1:94025000-94032800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:94025000-94032800	Strong transcription	NHEK	skin
19	chr1:94025000-94037600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:94025000-94043400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:94025200-94032800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr1:94025200-94033200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:94025200-94033600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:94025200-94043000	Strong transcription	Liver	Liver
25	chr1:94025200-94043000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr1:94025400-94049400	Strong transcription	Hela-S3	cervix
27	chr1:94025600-94032000	Weak transcription	Aorta	Aorta
28	chr1:94025600-94035000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:94025600-94043400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
31	chr1:94025800-94037000	Weak transcription	Brain Angular Gyrus	brain
32	chr1:94026000-94036000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:94026400-94040200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:94026600-94032000	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:94026800-94034400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr1:94027200-94037600	Weak transcription	Dnd41	blood
37	chr1:94027400-94036400	Weak transcription	Brain Substantia Nigra	brain
38	chr1:94027600-94037800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:94028000-94042600	Weak transcription	Fetal Kidney	kidney
40	chr1:94028600-94032400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:94029000-94040600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:94030200-94032400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:94030200-94033400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr1:94030200-94046400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr1:94030400-94033000	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:94030400-94038800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:94030600-94032000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr1:94030800-94032200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr1:94030800-94032600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:94030800-94032800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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