Variant report

Variant	rs2348462
Chromosome Location	chr7:47848243-47848244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs1074780	0.84[JPT][hapmap]
rs11765736	0.84[CHB][hapmap]
rs12671226	0.91[JPT][hapmap]
rs12673415	1.00[ASW][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap]
rs17545564	0.92[CHB][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs17627961	0.85[ASN][1000 genomes]
rs17659711	0.91[JPT][hapmap]
rs17659868	0.84[CHB][hapmap];0.85[CHD][hapmap]
rs17659956	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17710633	0.91[JPT][hapmap]
rs17710675	1.00[AFR][1000 genomes]
rs17710874	0.82[CHB][hapmap]
rs17710880	0.84[CHB][hapmap];0.83[CHD][hapmap]
rs1869322	0.89[JPT][hapmap]
rs1869323	0.91[JPT][hapmap]
rs2290386	0.92[CHB][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs2348460	1.00[JPT][hapmap]
rs3734933	0.91[JPT][hapmap];1.00[AFR][1000 genomes]
rs4724645	1.00[ASW][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes]
rs4724647	0.84[JPT][hapmap]
rs4724648	0.84[CHB][hapmap];0.94[CHD][hapmap];0.80[ASN][1000 genomes]
rs62448554	1.00[AFR][1000 genomes]
rs73692834	0.87[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47823400-47849400	Weak transcription	Psoas Muscle	Psoas
2	chr7:47823400-47852200	Weak transcription	Right Ventricle	heart
3	chr7:47827000-47851400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:47838400-47853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr7:47842600-47852000	Weak transcription	Gastric	stomach
6	chr7:47844400-47848400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr7:47845600-47852400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:47846600-47852800	Weak transcription	Fetal Intestine Small	intestine
9	chr7:47846800-47858600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:47847200-47851200	Weak transcription	Brain Anterior Caudate	brain
11	chr7:47847400-47848400	Enhancers	A549	lung
12	chr7:47847400-47849800	Weak transcription	Esophagus	oesophagus
13	chr7:47847400-47851200	Weak transcription	Fetal Stomach	stomach
14	chr7:47847400-47852200	Weak transcription	Left Ventricle	heart
15	chr7:47847400-47854000	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:47847600-47848400	Strong transcription	HSMMtube	muscle
17	chr7:47847600-47851200	Weak transcription	Brain Angular Gyrus	brain
18	chr7:47847600-47851200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:47847600-47855800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:47847600-47858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:47847800-47849000	Weak transcription	Fetal Thymus	thymus
22	chr7:47847800-47849000	Weak transcription	Pancreas	Pancrea
23	chr7:47847800-47849800	Weak transcription	HepG2	liver
24	chr7:47847800-47850200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:47847800-47851200	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:47847800-47851200	Weak transcription	Brain Substantia Nigra	brain
27	chr7:47847800-47852200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:47847800-47853000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:47847800-47853000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:47847800-47854200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:47848000-47851200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:47848000-47852600	Weak transcription	Spleen	Spleen
33	chr7:47848000-47853200	Weak transcription	Primary B cells from cord blood	blood
34	chr7:47848200-47849200	Weak transcription	Lung	lung
35	chr7:47848200-47850000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr7:47848200-47851200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr7:47848200-47851400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr7:47848200-47853000	Weak transcription	Adipose Nuclei	Adipose

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