Variant report

Variant	rs28507096
Chromosome Location	chr7:27974243-27974244
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	chr7:27967354..27970328-chr7:27973178..27975197,2	K562	blood:
2	chr7:27972439..27975047-chr7:27975781..27979085,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10239787	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244948	0.80[AMR][1000 genomes]
rs10248465	0.80[AMR][1000 genomes]
rs10250533	0.83[ASN][1000 genomes]
rs10275982	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10278615	0.83[ASN][1000 genomes]
rs10282662	0.80[AMR][1000 genomes]
rs10951188	0.80[AMR][1000 genomes]
rs12531234	0.83[ASN][1000 genomes]
rs13236531	0.83[ASN][1000 genomes]
rs1557780	0.80[AMR][1000 genomes]
rs35135622	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4722745	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67583972	0.83[ASN][1000 genomes]
rs7787576	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7804500	0.83[ASN][1000 genomes]
rs7804617	0.83[ASN][1000 genomes]
rs7805497	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	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	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
3	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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27941400-27990800	Weak transcription	Primary T cells from cord blood	blood
2	chr7:27942400-28005600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr7:27956600-27979800	Weak transcription	Aorta	Aorta
4	chr7:27957200-27979000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:27957600-28000800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:27961000-27976000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:27961000-27983400	Weak transcription	NH-A	brain
8	chr7:27963400-27978000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:27963600-27975600	Weak transcription	Fetal Heart	heart
10	chr7:27963600-27976400	Weak transcription	Psoas Muscle	Psoas
11	chr7:27963800-27975400	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:27964000-27979200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:27964600-27975400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:27966400-27976600	Weak transcription	Primary B cells from cord blood	blood
15	chr7:27966600-27975400	Weak transcription	Left Ventricle	heart
16	chr7:27968400-27979000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:27969200-27975400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:27970000-27980000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:27972000-27977400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:27972200-27975800	Enhancers	NHDF-Ad	bronchial
21	chr7:27972400-27974800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:27972600-27979200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr7:27972800-27979000	Weak transcription	Fetal Stomach	stomach
24	chr7:27973000-27974400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:27973400-27976200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:27973600-27979000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:27973600-27982600	Weak transcription	Spleen	Spleen
28	chr7:27973800-27975800	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:27973800-27976200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:27973800-27978600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:27973800-27979200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:27973800-27986200	Weak transcription	HSMM	muscle
33	chr7:27974000-27975000	Weak transcription	Adipose Nuclei	Adipose
34	chr7:27974000-27975400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:27974000-27976000	Weak transcription	A549	lung
36	chr7:27974000-27979200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:27974000-27980800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:27974000-27981200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:27974000-27981400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:27974000-27990800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr7:27974200-27974400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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