Variant report

Variant	rs643521
Chromosome Location	chr1:84719419-84719420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84717533..84719612-chr1:84721999..84724485,2	K562	blood:
2	chr1:84719167..84721681-chr1:84724768..84726729,2	MCF-7	breast:
3	chr1:84718460..84721280-chr1:84722520..84725212,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10782825	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11163925	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12070215	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12126586	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12134263	0.89[EUR][1000 genomes]
rs12135635	1.00[EUR][1000 genomes]
rs12142220	0.82[CEU][hapmap]
rs17131308	1.00[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17131371	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2811994	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs585992	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs600771	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs601301	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs605969	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs606816	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs606904	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs608672	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61766401	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs620856	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs621670	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs621750	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs663630	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9943254	0.81[AMR][1000 genomes];0.95[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	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1817156	chr1:84713610-84720376	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84701200-84719600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:84701400-84719800	Weak transcription	Fetal Heart	heart
3	chr1:84701400-84719800	Weak transcription	HSMM	muscle
4	chr1:84705800-84723000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:84714000-84719600	Weak transcription	Hela-S3	cervix
6	chr1:84714000-84726000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:84718000-84720600	Enhancers	NH-A	brain
8	chr1:84718200-84719600	Enhancers	Brain Hippocampus Middle	brain
9	chr1:84718200-84720200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:84718200-84720200	Enhancers	NHDF-Ad	bronchial
11	chr1:84718200-84720400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:84718200-84720400	Enhancers	HUVEC	blood vessel
13	chr1:84718200-84720600	Enhancers	Osteobl	bone
14	chr1:84718200-84721400	Enhancers	A549	lung
15	chr1:84718200-84723400	Enhancers	Brain Substantia Nigra	brain
16	chr1:84718400-84720200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:84718400-84720200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:84718400-84720200	Enhancers	NHLF	lung
19	chr1:84718400-84720400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:84718400-84720800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:84718400-84721400	Enhancers	Brain Anterior Caudate	brain
22	chr1:84718400-84721600	Enhancers	Brain Cingulate Gyrus	brain
23	chr1:84718400-84721600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr1:84718600-84719600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:84718600-84719600	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:84718600-84719600	Weak transcription	Gastric	stomach
27	chr1:84718600-84719800	Weak transcription	Brain Angular Gyrus	brain
28	chr1:84718600-84720000	Enhancers	HSMMtube	muscle
29	chr1:84718600-84720400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:84718600-84720600	Enhancers	HMEC	breast
31	chr1:84718800-84719800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:84718800-84720600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:84718800-84721400	Enhancers	Stomach Smooth Muscle	stomach
34	chr1:84718800-84721600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr1:84719000-84721400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:84719000-84722000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:84719400-84719600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:84719400-84719600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr1:84719400-84719800	Enhancers	Colonic Mucosa	Colon
40	chr1:84719400-84720000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:84719400-84720400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr1:84719400-84720400	Enhancers	NHEK	skin
43	chr1:84719400-84720800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr1:84719400-84721200	Enhancers	Cortex derived primary cultured neurospheres	brain

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