Variant report

Variant	rs11577352
Chromosome Location	chr1:94053076-94053077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:94052809-94055652	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:94052707-94053194	Hela-S3	cervix:	n/a	n/a
3	USF2	chr1:94052926-94053092	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:94052891-94053173	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000224093	TF binding region
BCAR3	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11576435	1.00[ASN][1000 genomes]
rs11579004	1.00[ASN][1000 genomes]
rs11579685	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580965	1.00[ASN][1000 genomes]
rs11588860	1.00[ASN][1000 genomes]
rs12066343	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073093	1.00[ASN][1000 genomes]
rs12090736	1.00[ASN][1000 genomes]
rs12732557	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12739747	1.00[ASN][1000 genomes]
rs12740779	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744941	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12757325	1.00[ASN][1000 genomes]
rs12760092	1.00[ASN][1000 genomes]
rs17110063	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110101	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110111	0.91[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	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34663884	1.00[ASN][1000 genomes]
rs34666525	0.91[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	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35972761	1.00[ASN][1000 genomes]
rs36115605	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3950119	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[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	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677770	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679609	1.00[ASN][1000 genomes]
rs6683296	1.00[ASN][1000 genomes]
rs66966060	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67043929	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67300695	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67354439	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67511232	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71652539	1.00[ASN][1000 genomes]
rs72721041	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511890	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525880	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531106	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543098	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543734	0.91[EUR][1000 genomes]
rs7543763	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553185	1.00[ASN][1000 genomes]
rs7555302	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761802	0.91[EUR][1000 genomes];1.00[ASN][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	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
2	chr1:94032000-94053600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:94038400-94054000	Weak transcription	Brain Substantia Nigra	brain
4	chr1:94038400-94054800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:94038600-94054200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:94040000-94055000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:94041800-94059400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:94042000-94054800	Weak transcription	Primary B cells from cord blood	blood
9	chr1:94042200-94063200	Weak transcription	Brain Germinal Matrix	brain
10	chr1:94043000-94058400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:94045400-94053600	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:94046600-94058200	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:94047200-94053600	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr1:94047400-94053400	Strong transcription	HUVEC	blood vessel
15	chr1:94048200-94054600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:94048200-94059200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:94048200-94059400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:94048400-94053200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:94048400-94059600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:94048600-94064200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:94048800-94053800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:94049600-94053600	Enhancers	Fetal Heart	heart
23	chr1:94049600-94059400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:94050000-94054800	Weak transcription	GM12878-XiMat	blood
25	chr1:94050000-94056200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:94050000-94059400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:94050600-94055600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:94050800-94053800	Weak transcription	Spleen	Spleen
29	chr1:94050800-94054600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:94050800-94057800	Weak transcription	Small Intestine	intestine
31	chr1:94050800-94059200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:94051000-94053400	Weak transcription	Ovary	ovary
33	chr1:94051000-94053400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:94051000-94054200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:94051000-94056800	Weak transcription	Fetal Thymus	thymus
36	chr1:94051200-94053400	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:94051200-94053600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:94051200-94053600	Weak transcription	Psoas Muscle	Psoas
39	chr1:94051200-94057200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:94051200-94057200	Weak transcription	Fetal Kidney	kidney
41	chr1:94051400-94053200	Strong transcription	HSMM	muscle
42	chr1:94051400-94053800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:94051400-94053800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:94051400-94054400	Weak transcription	Brain Anterior Caudate	brain
45	chr1:94051400-94057600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:94051600-94055400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:94051600-94055800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr1:94051800-94053800	Strong transcription	Osteobl	bone
49	chr1:94051800-94054000	Strong transcription	Lung	lung
50	chr1:94051800-94054400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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