Variant report

Variant	rs615468
Chromosome Location	chr1:84719729-84719730
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	chr1:84719167..84721681-chr1:84724768..84726729,2	MCF-7	breast:
2	chr1:84718460..84721280-chr1:84722520..84725212,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1027694	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11163929	0.96[EUR][1000 genomes]
rs11163932	0.90[ASN][1000 genomes]
rs12041490	0.96[EUR][1000 genomes]
rs12406360	0.96[EUR][1000 genomes]
rs1402696	0.96[ASN][1000 genomes]
rs1494312	0.99[ASN][1000 genomes]
rs1521520	0.89[ASN][1000 genomes]
rs17365096	0.94[EUR][1000 genomes]
rs2389717	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4906988	0.92[ASN][1000 genomes]
rs4907047	0.98[ASN][1000 genomes]
rs4907049	0.92[ASN][1000 genomes]
rs4907051	0.91[ASN][1000 genomes]
rs583720	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs600674	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs600902	0.95[ASN][1000 genomes]
rs611467	0.96[EUR][1000 genomes]
rs612848	0.95[ASN][1000 genomes]
rs615726	0.90[ASN][1000 genomes]
rs632802	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs655977	1.00[ASN][1000 genomes]
rs6576697	0.93[ASN][1000 genomes]
rs6703471	0.91[ASN][1000 genomes]
rs674494	0.99[ASN][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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84701400-84719800	Weak transcription	Fetal Heart	heart
2	chr1:84701400-84719800	Weak transcription	HSMM	muscle
3	chr1:84705800-84723000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:84714000-84726000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:84718000-84720600	Enhancers	NH-A	brain
6	chr1:84718200-84720200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:84718200-84720200	Enhancers	NHDF-Ad	bronchial
8	chr1:84718200-84720400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:84718200-84720400	Enhancers	HUVEC	blood vessel
10	chr1:84718200-84720600	Enhancers	Osteobl	bone
11	chr1:84718200-84721400	Enhancers	A549	lung
12	chr1:84718200-84723400	Enhancers	Brain Substantia Nigra	brain
13	chr1:84718400-84720200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:84718400-84720200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:84718400-84720200	Enhancers	NHLF	lung
16	chr1:84718400-84720400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:84718400-84720800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr1:84718400-84721400	Enhancers	Brain Anterior Caudate	brain
19	chr1:84718400-84721600	Enhancers	Brain Cingulate Gyrus	brain
20	chr1:84718400-84721600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:84718600-84719800	Weak transcription	Brain Angular Gyrus	brain
22	chr1:84718600-84720000	Enhancers	HSMMtube	muscle
23	chr1:84718600-84720400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:84718600-84720600	Enhancers	HMEC	breast
25	chr1:84718800-84719800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:84718800-84720600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:84718800-84721400	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:84718800-84721600	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr1:84719000-84721400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:84719000-84722000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:84719400-84719800	Enhancers	Colonic Mucosa	Colon
32	chr1:84719400-84720000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:84719400-84720400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr1:84719400-84720400	Enhancers	NHEK	skin
35	chr1:84719400-84720800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr1:84719400-84721200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr1:84719600-84719800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr1:84719600-84720000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:84719600-84720000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:84719600-84720000	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr1:84719600-84720000	Enhancers	Fetal Muscle Leg	muscle
42	chr1:84719600-84720000	Enhancers	Gastric	stomach
43	chr1:84719600-84720000	Enhancers	Left Ventricle	heart
44	chr1:84719600-84720000	Enhancers	Pancreas	Pancrea
45	chr1:84719600-84720000	Enhancers	Right Atrium	heart
46	chr1:84719600-84720200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:84719600-84720200	Enhancers	Right Ventricle	heart
48	chr1:84719600-84720200	Enhancers	HepG2	liver
49	chr1:84719600-84720400	Enhancers	Hela-S3	cervix
50	chr1:84719600-84720600	Enhancers	Aorta	Aorta

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