Variant report

Variant	rs1869323
Chromosome Location	chr7:47843808-47843809
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:47840087..47841589-chr7:47841820..47843943,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12666913	0.93[ASN][1000 genomes]
rs12671226	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12673415	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1453288	0.82[CHB][hapmap]
rs17545292	0.82[CHB][hapmap]
rs17659711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17710633	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17710675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2348460	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2348462	0.91[JPT][hapmap]
rs3734933	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62448545	0.83[ASN][1000 genomes]
rs62448548	0.83[ASN][1000 genomes]
rs62448549	0.83[ASN][1000 genomes]
rs62448550	0.83[ASN][1000 genomes]
rs62448553	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62448554	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6949512	0.83[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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47817200-47846600	Weak transcription	Left Ventricle	heart
2	chr7:47823400-47847200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:47823400-47849400	Weak transcription	Psoas Muscle	Psoas
4	chr7:47823400-47852200	Weak transcription	Right Ventricle	heart
5	chr7:47826600-47844000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:47827000-47851400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:47827600-47844400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:47827600-47845800	Weak transcription	Fetal Stomach	stomach
9	chr7:47834400-47847000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:47835400-47845800	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:47836200-47844400	Weak transcription	NH-A	brain
12	chr7:47836200-47844600	Weak transcription	Ovary	ovary
13	chr7:47836400-47844400	Weak transcription	NHLF	lung
14	chr7:47838400-47853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:47838800-47847800	Enhancers	HepG2	liver
16	chr7:47839200-47845800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:47840800-47847400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:47841200-47844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:47841600-47844600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:47841600-47844600	Weak transcription	NHEK	skin
21	chr7:47842000-47844800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:47842000-47846600	Enhancers	Fetal Intestine Small	intestine
23	chr7:47842200-47846600	Weak transcription	HMEC	breast
24	chr7:47842400-47845000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:47842400-47845000	Weak transcription	Fetal Intestine Large	intestine
26	chr7:47842400-47845200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:47842400-47846600	Weak transcription	Esophagus	oesophagus
28	chr7:47842600-47852000	Weak transcription	Gastric	stomach
29	chr7:47843200-47846800	Enhancers	HSMM	muscle
30	chr7:47843400-47845400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:47843400-47846000	Enhancers	A549	lung
32	chr7:47843600-47844400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:47843600-47845000	Weak transcription	Right Atrium	heart
34	chr7:47843600-47845200	Weak transcription	Pancreas	Pancrea
35	chr7:47843800-47844800	Weak transcription	Stomach Mucosa	stomach
36	chr7:47843800-47845400	Weak transcription	Fetal Heart	heart

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