Variant report

Variant	rs34423897
Chromosome Location	chr1:94053227-94053228
allele	C/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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94053174..94055459-chr1:94085233..94086891,2	MCF-7	breast:

Variant related genes	Relation type
BCAR3	TF binding region
ENSG00000224093	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]
rs11577352	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579004	1.00[ASN][1000 genomes]
rs11579685	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580965	1.00[ASN][1000 genomes]
rs11588860	1.00[ASN][1000 genomes]
rs12066343	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073093	1.00[ASN][1000 genomes]
rs12090736	1.00[ASN][1000 genomes]
rs12732557	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12739747	1.00[ASN][1000 genomes]
rs12740779	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744941	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12757325	1.00[ASN][1000 genomes]
rs12760092	1.00[ASN][1000 genomes]
rs17110063	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110101	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110111	0.82[AMR][1000 genomes];0.89[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]
rs34663884	1.00[ASN][1000 genomes]
rs34666525	0.82[AMR][1000 genomes];0.89[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	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35972761	1.00[ASN][1000 genomes]
rs36115605	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3950119	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[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	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677770	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679609	1.00[ASN][1000 genomes]
rs6683296	1.00[ASN][1000 genomes]
rs66966060	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67043929	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67300695	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67354439	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67511232	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71652539	1.00[ASN][1000 genomes]
rs72721041	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511890	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525880	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531106	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543098	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543734	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7543763	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553185	1.00[ASN][1000 genomes]
rs7555302	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761802	0.82[AMR][1000 genomes];0.89[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	chr1:94048400-94059600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:94048600-94064200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:94048800-94053800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:94049600-94053600	Enhancers	Fetal Heart	heart
22	chr1:94049600-94059400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:94050000-94054800	Weak transcription	GM12878-XiMat	blood
24	chr1:94050000-94056200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:94050000-94059400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:94050600-94055600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:94050800-94053800	Weak transcription	Spleen	Spleen
28	chr1:94050800-94054600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:94050800-94057800	Weak transcription	Small Intestine	intestine
30	chr1:94050800-94059200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:94051000-94053400	Weak transcription	Ovary	ovary
32	chr1:94051000-94053400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:94051000-94054200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:94051000-94056800	Weak transcription	Fetal Thymus	thymus
35	chr1:94051200-94053400	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:94051200-94053600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:94051200-94053600	Weak transcription	Psoas Muscle	Psoas
38	chr1:94051200-94057200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:94051200-94057200	Weak transcription	Fetal Kidney	kidney
40	chr1:94051400-94053800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:94051400-94053800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:94051400-94054400	Weak transcription	Brain Anterior Caudate	brain
43	chr1:94051400-94057600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:94051600-94055400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:94051600-94055800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr1:94051800-94053800	Strong transcription	Osteobl	bone
47	chr1:94051800-94054000	Strong transcription	Lung	lung
48	chr1:94051800-94054400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:94051800-94055000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
50	chr1:94051800-94055400	Weak transcription	Stomach Mucosa	stomach

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