Variant report

Variant	rs773417
Chromosome Location	chr7:39995197-39995198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39992254..39999333-chr7:39999543..40002599,8	K562	blood:
2	chr7:39994702..39997445-chr7:39998087..39999888,2	MCF-7	breast:
3	chr7:39992179..39995720-chr7:40011134..40014847,3	K562	blood:
4	chr7:39993833..39995767-chr7:39996251..39998539,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1082021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082027	1.00[AMR][1000 genomes]
rs1082033	1.00[AMR][1000 genomes]
rs12113257	1.00[AMR][1000 genomes]
rs1257697	1.00[AMR][1000 genomes]
rs1257711	1.00[AMR][1000 genomes]
rs1314087	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1829909	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55825872	1.00[AMR][1000 genomes]
rs56684313	1.00[AMR][1000 genomes]
rs58681548	1.00[AMR][1000 genomes]
rs73687511	1.00[AMR][1000 genomes]
rs773380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773389	1.00[YRI][hapmap]
rs773394	1.00[AMR][1000 genomes]
rs773396	1.00[AMR][1000 genomes]
rs773400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773401	1.00[AMR][1000 genomes]
rs773404	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773406	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773408	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs773409	1.00[YRI][hapmap]
rs773416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773418	1.00[AMR][1000 genomes]
rs773419	1.00[AMR][1000 genomes]
rs773420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773421	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773422	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773423	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs808913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9942572	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39988200-39996200	Active TSS	GM12878-XiMat	blood
2	chr7:39991800-39996200	Weak transcription	Esophagus	oesophagus
3	chr7:39991800-40000200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:39991800-40000800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:39991800-40005200	Weak transcription	Lung	lung
6	chr7:39992000-39999200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:39992000-40006400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:39992400-39995600	Flanking Active TSS	Dnd41	blood
9	chr7:39992600-40001200	Weak transcription	Placenta	Placenta
10	chr7:39993000-39995200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr7:39993000-39995200	Enhancers	Brain Substantia Nigra	brain
12	chr7:39993200-39995200	Enhancers	Small Intestine	intestine
13	chr7:39993200-39997200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:39993400-39995400	Enhancers	Primary B cells from peripheral blood	blood
15	chr7:39993400-40000000	Weak transcription	Fetal Thymus	thymus
16	chr7:39993400-40001000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:39993600-39995200	Enhancers	Primary B cells from cord blood	blood
18	chr7:39993600-39995200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:39993600-39995200	Enhancers	Brain Cingulate Gyrus	brain
20	chr7:39993600-39995200	Enhancers	Fetal Brain Male	brain
21	chr7:39993600-39995400	Enhancers	Adipose Nuclei	Adipose
22	chr7:39993600-39995400	Enhancers	Brain Anterior Caudate	brain
23	chr7:39993600-39995400	Enhancers	Brain Hippocampus Middle	brain
24	chr7:39993600-39995800	Enhancers	Brain Angular Gyrus	brain
25	chr7:39993600-39996200	Weak transcription	Left Ventricle	heart
26	chr7:39993600-39996200	Weak transcription	Right Ventricle	heart
27	chr7:39993600-39996600	Enhancers	Liver	Liver
28	chr7:39993600-39999800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr7:39993600-40000000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr7:39993600-40048200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:39993800-39995200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:39993800-39995200	Enhancers	HUVEC	blood vessel
33	chr7:39993800-39995800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr7:39993800-39997600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:39993800-40000000	Weak transcription	HSMMtube	muscle
36	chr7:39993800-40000800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:39993800-40000800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:39994000-39995200	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr7:39994000-39995200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr7:39994000-39995200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:39994000-39995200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:39994000-39995400	Enhancers	HepG2	liver
43	chr7:39994000-40000800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:39994200-39995200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr7:39994200-39995200	Enhancers	Colon Smooth Muscle	Colon
46	chr7:39994200-39995200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr7:39994200-39995200	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr7:39994200-39995200	Enhancers	Psoas Muscle	Psoas
49	chr7:39994200-39995800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:39994200-39996200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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