Variant report

Variant	rs28481617
Chromosome Location	chr7:140469757-140469758
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	chr7:140467826..140469785-chr7:140471458..140473355,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10225852	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10227524	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10227617	1.00[AMR][1000 genomes]
rs10229313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10233173	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10233557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236260	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236694	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10247601	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10247753	1.00[AMR][1000 genomes]
rs10251357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10252634	0.85[AFR][1000 genomes]
rs10254605	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255257	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255476	0.82[AFR][1000 genomes]
rs10279071	0.82[AFR][1000 genomes]
rs10280112	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10280479	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10441168	1.00[AMR][1000 genomes]
rs11974522	0.82[AFR][1000 genomes]
rs11979399	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11979913	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11984018	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28446531	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28456012	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28505512	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28541336	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28612236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28627200	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28718470	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71645987	0.96[AFR][1000 genomes];1.00[AMR][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	esv3351231	chr7:140390303-140588539	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv831158	chr7:140392222-140602315	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv869260	chr7:140404835-140542905	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140398200-140473800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:140398200-140492600	Weak transcription	Colonic Mucosa	Colon
3	chr7:140398600-140491800	Weak transcription	Fetal Brain Male	brain
4	chr7:140400000-140474000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:140404800-140489000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:140404800-140517000	Weak transcription	Psoas Muscle	Psoas
7	chr7:140405200-140470800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:140405600-140472200	Weak transcription	Brain Substantia Nigra	brain
9	chr7:140406600-140472800	Weak transcription	Hela-S3	cervix
10	chr7:140415000-140504400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:140415200-140472000	Weak transcription	Lung	lung
12	chr7:140415200-140506600	Weak transcription	Gastric	stomach
13	chr7:140421800-140474000	Weak transcription	Brain Angular Gyrus	brain
14	chr7:140424400-140476600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:140426200-140473000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:140428200-140489400	Weak transcription	Small Intestine	intestine
17	chr7:140428600-140476600	Weak transcription	NHDF-Ad	bronchial
18	chr7:140431200-140474200	Weak transcription	Esophagus	oesophagus
19	chr7:140438400-140482400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:140439600-140474800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:140440000-140472000	Weak transcription	Brain Anterior Caudate	brain
22	chr7:140440400-140476400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:140440600-140492600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:140441400-140504000	Weak transcription	NHLF	lung
25	chr7:140444200-140485600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:140446000-140472800	Weak transcription	Fetal Heart	heart
27	chr7:140446200-140474800	Weak transcription	HSMM	muscle
28	chr7:140448000-140473400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:140449200-140474600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr7:140452400-140506200	Weak transcription	Pancreas	Pancrea
31	chr7:140454000-140472800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:140454000-140476000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:140454200-140474400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:140454400-140473000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr7:140455200-140473200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:140455800-140475000	Weak transcription	GM12878-XiMat	blood
37	chr7:140456000-140471600	Weak transcription	Placenta	Placenta
38	chr7:140458200-140478600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:140460000-140478600	Weak transcription	Brain Germinal Matrix	brain
40	chr7:140460400-140470800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr7:140462800-140475600	Weak transcription	HUVEC	blood vessel
42	chr7:140463600-140474200	Weak transcription	Osteobl	bone
43	chr7:140464800-140495600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr7:140465600-140470000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:140465600-140500400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr7:140465800-140508600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:140466200-140470400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:140466200-140473000	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:140466400-140469800	Strong transcription	Fetal Intestine Large	intestine
50	chr7:140466400-140470200	Strong transcription	HUES64 Cell Line	embryonic stem cell

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