Variant report

Variant	rs4844498
Chromosome Location	chr1:210049297-210049298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210033344..210033878-chr1:210048801..210049436,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10779520	1.00[EUR][1000 genomes]
rs10863796	1.00[EUR][1000 genomes]
rs10863801	1.00[EUR][1000 genomes]
rs10863806	1.00[EUR][1000 genomes]
rs11119359	0.96[AMR][1000 genomes]
rs11119360	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119361	1.00[EUR][1000 genomes]
rs11119362	1.00[EUR][1000 genomes]
rs11119372	1.00[EUR][1000 genomes]
rs11119391	1.00[EUR][1000 genomes]
rs11119401	1.00[EUR][1000 genomes]
rs12057832	1.00[EUR][1000 genomes]
rs12062600	0.98[AMR][1000 genomes]
rs12063989	0.98[AMR][1000 genomes]
rs12064085	0.98[AMR][1000 genomes]
rs12064211	0.98[AMR][1000 genomes]
rs12064990	1.00[EUR][1000 genomes]
rs12065575	1.00[EUR][1000 genomes]
rs12066340	0.96[AMR][1000 genomes]
rs12069592	1.00[EUR][1000 genomes]
rs12078157	0.98[AMR][1000 genomes]
rs12079812	1.00[EUR][1000 genomes]
rs12089449	1.00[EUR][1000 genomes]
rs12094309	1.00[EUR][1000 genomes]
rs12401574	1.00[EUR][1000 genomes]
rs12403002	1.00[EUR][1000 genomes]
rs12407647	1.00[EUR][1000 genomes]
rs12563527	0.98[AMR][1000 genomes]
rs1883332	0.98[AMR][1000 genomes]
rs2038052	1.00[EUR][1000 genomes]
rs2130625	1.00[EUR][1000 genomes]
rs4844496	0.85[AMR][1000 genomes]
rs4844507	1.00[EUR][1000 genomes]
rs4844908	0.98[AMR][1000 genomes]
rs4844924	1.00[EUR][1000 genomes]
rs4844928	1.00[EUR][1000 genomes]
rs4844936	1.00[EUR][1000 genomes]
rs9787400	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210041000-210055400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:210042600-210049400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:210045200-210051400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:210047400-210049600	Enhancers	NHEK	skin
5	chr1:210047400-210050200	Weak transcription	HUVEC	blood vessel
6	chr1:210047400-210051200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:210047400-210051200	Enhancers	HMEC	breast
8	chr1:210047400-210052600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:210047400-210053400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:210047600-210049400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:210048400-210049800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:210048600-210049400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:210048800-210049400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:210048800-210049400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:210048800-210049400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:210048800-210049400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:210048800-210049400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:210048800-210049400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:210048800-210049400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:210048800-210049400	Enhancers	Ovary	ovary
21	chr1:210048800-210049600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:210048800-210049600	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr1:210048800-210049800	Enhancers	NHLF	lung
24	chr1:210048800-210050600	Enhancers	Brain Cingulate Gyrus	brain
25	chr1:210048800-210050600	Enhancers	Fetal Brain Male	brain
26	chr1:210048800-210050800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:210048800-210050800	Enhancers	HSMMtube	muscle
28	chr1:210048800-210051800	Enhancers	Hela-S3	cervix
29	chr1:210049000-210049400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr1:210049000-210049400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:210049000-210049400	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr1:210049000-210049600	Weak transcription	Brain Substantia Nigra	brain
33	chr1:210049000-210049600	Flanking Active TSS	NH-A	brain
34	chr1:210049000-210049800	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr1:210049000-210050200	Enhancers	HSMM	muscle
36	chr1:210049000-210051200	Enhancers	NHDF-Ad	bronchial
37	chr1:210049200-210049400	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr1:210049200-210049400	Active TSS	Fetal Brain Female	brain
39	chr1:210049200-210049400	Enhancers	Fetal Lung	lung
40	chr1:210049200-210049400	Flanking Active TSS	Osteobl	bone
41	chr1:210049200-210049800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:210049200-210050000	Enhancers	Brain Angular Gyrus	brain
43	chr1:210049200-210051000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:210049200-210051000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:210049200-210051000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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