Variant report

Variant	rs2348460
Chromosome Location	chr7:47846770-47846771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1074780	0.84[JPT][hapmap]
rs11760488	0.82[YRI][hapmap]
rs12666913	0.89[ASN][1000 genomes]
rs12671226	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12673415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1453288	0.85[CHD][hapmap]
rs17545292	0.83[CHD][hapmap]
rs17545564	0.91[JPT][hapmap]
rs17659711	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]
rs17659868	0.84[JPT][hapmap]
rs17710633	0.80[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17710675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1869322	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1869323	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]
rs2290386	0.91[JPT][hapmap]
rs2348462	1.00[JPT][hapmap]
rs3734933	0.90[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4724645	0.80[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4724647	0.84[JPT][hapmap]
rs4724648	0.91[JPT][hapmap]
rs62448553	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62448554	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6949512	0.88[CHD][hapmap]
rs6959021	0.84[JPT][hapmap]

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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47823400-47847200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:47823400-47849400	Weak transcription	Psoas Muscle	Psoas
3	chr7:47823400-47852200	Weak transcription	Right Ventricle	heart
4	chr7:47827000-47851400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:47834400-47847000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:47838400-47853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:47838800-47847800	Enhancers	HepG2	liver
8	chr7:47840800-47847400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:47842600-47852000	Weak transcription	Gastric	stomach
10	chr7:47843200-47846800	Enhancers	HSMM	muscle
11	chr7:47844400-47846800	Enhancers	NHLF	lung
12	chr7:47844400-47847400	Enhancers	HUVEC	blood vessel
13	chr7:47844400-47848400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:47844600-47847400	Enhancers	Ovary	ovary
15	chr7:47844600-47848000	Enhancers	Spleen	Spleen
16	chr7:47845000-47846800	Enhancers	Fetal Intestine Large	intestine
17	chr7:47845000-47848200	Enhancers	Lung	lung
18	chr7:47845200-47847800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:47845200-47847800	Enhancers	Pancreas	Pancrea
20	chr7:47845400-47846800	Enhancers	Aorta	Aorta
21	chr7:47845400-47847000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:47845400-47847400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:47845400-47847400	Enhancers	Fetal Heart	heart
24	chr7:47845600-47847400	Enhancers	Liver	Liver
25	chr7:47845600-47848200	Enhancers	Placenta	Placenta
26	chr7:47845600-47852400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:47845800-47847000	Enhancers	Colon Smooth Muscle	Colon
28	chr7:47845800-47847000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr7:47845800-47847000	Enhancers	Fetal Stomach	stomach
30	chr7:47845800-47847200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:47845800-47847200	Enhancers	Duodenum Mucosa	Duodenum
32	chr7:47845800-47847400	Enhancers	Fetal Muscle Leg	muscle
33	chr7:47845800-47847600	Enhancers	Primary hematopoietic stem cells	blood
34	chr7:47845800-47847600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr7:47845800-47847600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr7:47845800-47847800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:47845800-47847800	Enhancers	Brain Substantia Nigra	brain
38	chr7:47845800-47848000	Enhancers	Primary B cells from cord blood	blood
39	chr7:47845800-47848000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr7:47846000-47846800	Enhancers	Rectal Smooth Muscle	rectum
41	chr7:47846000-47847400	Weak transcription	A549	lung
42	chr7:47846000-47847600	Enhancers	Brain Cingulate Gyrus	brain
43	chr7:47846000-47847600	Weak transcription	HSMMtube	muscle
44	chr7:47846200-47846800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:47846200-47846800	Enhancers	Fetal Lung	lung
46	chr7:47846200-47847000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr7:47846200-47847000	Weak transcription	Colonic Mucosa	Colon
48	chr7:47846200-47847200	Enhancers	Brain Anterior Caudate	brain
49	chr7:47846200-47848200	Enhancers	Primary B cells from peripheral blood	blood
50	chr7:47846400-47846800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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