Variant report

Variant	rs10275982
Chromosome Location	chr7:27953981-27953982
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10239787	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10244948	1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10248465	1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10250533	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10278615	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10282662	1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10951188	1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12531234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13236531	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1557780	1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs28507096	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35135622	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722745	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67583972	1.00[ASN][1000 genomes]
rs7787576	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7804500	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7804617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7805497	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1024819	chr7:27949955-28020969	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv520555	chr7:27952629-27958750	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27926600-27956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:27937600-27956200	Weak transcription	Gastric	stomach
3	chr7:27941200-27954400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:27941200-27956200	Weak transcription	Aorta	Aorta
5	chr7:27941400-27957600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:27941400-27990800	Weak transcription	Primary T cells from cord blood	blood
7	chr7:27941600-27956000	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:27941600-27962800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:27942200-27956000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:27942400-28005600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr7:27949000-27957400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr7:27949400-27954400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:27949600-27955200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:27950400-27957400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:27950400-27963000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:27950600-27954200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:27950600-27956800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:27950600-27957000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:27950600-27957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:27950600-27957200	Weak transcription	HSMMtube	muscle
21	chr7:27950800-27958200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:27951400-27963000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:27952000-27954200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:27952200-27956000	Weak transcription	HMEC	breast
25	chr7:27952400-27955000	Strong transcription	Primary B cells from cord blood	blood
26	chr7:27952600-27954000	Weak transcription	Psoas Muscle	Psoas
27	chr7:27952600-27959000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:27952600-27960200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:27952800-27954000	Weak transcription	Right Atrium	heart
30	chr7:27953400-27954400	Enhancers	Rectal Smooth Muscle	rectum
31	chr7:27953400-27955000	Enhancers	Colon Smooth Muscle	Colon
32	chr7:27953600-27954000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:27953600-27954600	Enhancers	Fetal Heart	heart
34	chr7:27953600-27954600	Enhancers	Left Ventricle	heart
35	chr7:27953600-27959400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:27953800-27954000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr7:27953800-27954000	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr7:27953800-27954200	Enhancers	Lung	lung
39	chr7:27953800-27954600	Enhancers	Right Ventricle	heart
40	chr7:27953800-27954600	Enhancers	Skeletal Muscle Female	skeletal muscle

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