Variant report

Variant	rs7514579
Chromosome Location	chr1:94051350-94051351
allele	A/C
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	chr1:94051117-94051367	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94048472..94052407-chr1:94077212..94082015,4	MCF-7	breast:

Variant related genes	Relation type
BCAR3	TF binding region
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11579685	0.82[EUR][1000 genomes]
rs12066343	0.83[EUR][1000 genomes]
rs12563504	0.91[ASN][1000 genomes]
rs12732557	0.82[EUR][1000 genomes]
rs17110101	0.82[EUR][1000 genomes]
rs17110111	0.82[EUR][1000 genomes]
rs34666525	0.82[EUR][1000 genomes]
rs35115771	0.91[ASN][1000 genomes]
rs36115605	0.81[EUR][1000 genomes]
rs3950119	0.83[EUR][1000 genomes]
rs6666778	0.82[EUR][1000 genomes]
rs66966060	0.82[EUR][1000 genomes]
rs67043929	0.82[EUR][1000 genomes]
rs67300695	0.82[EUR][1000 genomes]
rs67354439	0.82[EUR][1000 genomes]
rs67511232	0.82[EUR][1000 genomes]
rs72721041	0.82[EUR][1000 genomes]
rs7511890	0.83[EUR][1000 genomes]
rs7531106	0.82[EUR][1000 genomes]
rs7543098	0.83[EUR][1000 genomes]
rs7543734	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7543763	0.82[EUR][1000 genomes]
rs7546785	0.93[ASN][1000 genomes]
rs7555302	0.83[EUR][1000 genomes]
rs761802	0.82[EUR][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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
2	chr1:94031800-94052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:94032000-94053600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:94038400-94054000	Weak transcription	Brain Substantia Nigra	brain
5	chr1:94038400-94054800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:94038600-94051800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:94038600-94054200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:94040000-94055000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:94041800-94059400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:94042000-94054800	Weak transcription	Primary B cells from cord blood	blood
11	chr1:94042200-94063200	Weak transcription	Brain Germinal Matrix	brain
12	chr1:94042800-94053000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:94043000-94058400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:94045400-94053600	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:94046000-94051600	Strong transcription	NH-A	brain
16	chr1:94046600-94058200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:94047200-94053600	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr1:94047400-94053400	Strong transcription	HUVEC	blood vessel
19	chr1:94047600-94051400	Genic enhancers	Placenta	Placenta
20	chr1:94048200-94052000	Weak transcription	Fetal Lung	lung
21	chr1:94048200-94054600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:94048200-94059200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:94048200-94059400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:94048400-94053200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:94048400-94059600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:94048600-94064200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:94048800-94052200	Genic enhancers	NHDF-Ad	bronchial
28	chr1:94048800-94053800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:94049000-94051800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:94049000-94052000	Genic enhancers	Adipose Nuclei	Adipose
31	chr1:94049400-94051400	Genic enhancers	HSMM	muscle
32	chr1:94049400-94051800	Genic enhancers	Osteobl	bone
33	chr1:94049400-94052200	Genic enhancers	Hela-S3	cervix
34	chr1:94049600-94051400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:94049600-94051400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:94049600-94051600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:94049600-94051800	Weak transcription	Lung	lung
38	chr1:94049600-94052600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:94049600-94053600	Enhancers	Fetal Heart	heart
40	chr1:94049600-94059400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:94049800-94052000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:94049800-94052600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:94049800-94052600	Genic enhancers	HMEC	breast
44	chr1:94050000-94051400	Enhancers	Aorta	Aorta
45	chr1:94050000-94051400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr1:94050000-94052000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:94050000-94054800	Weak transcription	GM12878-XiMat	blood
48	chr1:94050000-94056200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:94050000-94059400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:94050200-94051400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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