Variant report

Variant	rs318030
Chromosome Location	chr5:41410460-41410461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41404307..41406613-chr5:41408825..41411220,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs13155537	1.00[EUR][1000 genomes]
rs161088	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1613321	0.80[CEU][hapmap];1.00[ASN][1000 genomes]
rs178466	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1817334	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445889	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs318029	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs318031	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs318035	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs318036	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs318038	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319002	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319003	1.00[ASN][1000 genomes]
rs319004	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319007	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319009	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319011	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs319012	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs320604	1.00[ASN][1000 genomes]
rs453636	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360428	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360573	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs638701	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897807	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1851387	chr5:41336050-41423631	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1024631	chr5:41341979-41427953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41404000-41412000	Enhancers	Fetal Heart	heart
2	chr5:41405400-41410600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:41407400-41410600	Weak transcription	Pancreas	Pancrea
4	chr5:41409400-41412600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:41409600-41410800	Weak transcription	HepG2	liver
6	chr5:41409600-41412600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:41409600-41412600	Weak transcription	Ovary	ovary
8	chr5:41409600-41412800	Weak transcription	Hela-S3	cervix
9	chr5:41409600-41413800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:41409600-41414400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:41409600-41414400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:41409600-41414400	Weak transcription	HMEC	breast
13	chr5:41409600-41414400	Weak transcription	NH-A	brain
14	chr5:41409600-41414600	Weak transcription	HSMM	muscle
15	chr5:41409800-41412600	Weak transcription	Fetal Intestine Large	intestine
16	chr5:41409800-41412600	Weak transcription	NHDF-Ad	bronchial
17	chr5:41409800-41412800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:41409800-41414400	Weak transcription	Osteobl	bone
19	chr5:41409800-41418400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:41410000-41410600	Enhancers	A549	lung
21	chr5:41410000-41412600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:41410000-41412800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:41410000-41413000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:41410000-41417800	Weak transcription	NHLF	lung
25	chr5:41410200-41411200	Enhancers	Left Ventricle	heart
26	chr5:41410200-41411200	Enhancers	Right Atrium	heart
27	chr5:41410400-41411000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr5:41410400-41411000	Enhancers	Duodenum Mucosa	Duodenum

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