Variant report

Variant	rs6947228
Chromosome Location	chr7:5017300-5017301
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5013734..5015904-chr7:5016496..5019075,2	K562	blood:

Variant related genes	Relation type
ENSG00000196204	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10156118	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10227163	0.81[EUR][1000 genomes]
rs10227289	0.86[EUR][1000 genomes]
rs10231607	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10234867	0.86[EUR][1000 genomes]
rs10244918	0.80[EUR][1000 genomes]
rs10247778	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10258371	0.83[EUR][1000 genomes]
rs10266832	0.86[EUR][1000 genomes]
rs10270777	0.89[EUR][1000 genomes]
rs10274596	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10276341	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10951742	0.84[EUR][1000 genomes]
rs28378446	0.88[EUR][1000 genomes]
rs28445422	0.90[EUR][1000 genomes]
rs28584451	0.88[EUR][1000 genomes]
rs28770605	0.82[EUR][1000 genomes]
rs2942565	0.80[EUR][1000 genomes]
rs2965032	0.82[EUR][1000 genomes]
rs4475394	0.81[EUR][1000 genomes]
rs59887595	0.88[EUR][1000 genomes]
rs6463203	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6463205	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6463207	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6463208	0.85[EUR][1000 genomes]
rs6463230	0.88[EUR][1000 genomes]
rs6463231	0.88[EUR][1000 genomes]
rs6463235	0.88[EUR][1000 genomes]
rs67717765	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6944061	0.84[EUR][1000 genomes]
rs6949280	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6978131	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6979525	0.88[EUR][1000 genomes]
rs73046002	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73051675	0.80[EUR][1000 genomes]
rs73051676	0.81[EUR][1000 genomes]
rs73051679	0.81[EUR][1000 genomes]
rs7777964	0.86[EUR][1000 genomes]
rs7780482	0.81[EUR][1000 genomes]
rs7797127	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7798073	0.82[EUR][1000 genomes]
rs7798542	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7798891	0.82[EUR][1000 genomes]
rs7800011	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7802590	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7803740	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak 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 miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1021170	chr7:4831361-5058033	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv538706	chr7:4831361-5058033	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1025467	chr7:4850447-5021443	ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1033855	chr7:4862677-5069764	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
13	nsv1019120	chr7:4929653-5138409	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv917078	chr7:4962123-5151633	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
15	nsv525289	chr7:5003373-5083741	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5014600-5023800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:5014600-5024400	Weak transcription	Small Intestine	intestine
3	chr7:5014600-5036200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:5014600-5041000	Weak transcription	Stomach Mucosa	stomach
5	chr7:5014800-5024400	Weak transcription	Colonic Mucosa	Colon
6	chr7:5014800-5026200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:5014800-5040000	Weak transcription	Right Atrium	heart
8	chr7:5014800-5041400	Weak transcription	Fetal Heart	heart
9	chr7:5015200-5017800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:5015200-5017800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr7:5015200-5018000	Weak transcription	NH-A	brain
12	chr7:5015200-5019400	Weak transcription	NHDF-Ad	bronchial
13	chr7:5015200-5020600	Weak transcription	NHEK	skin
14	chr7:5015200-5024000	Weak transcription	HMEC	breast
15	chr7:5015200-5024800	Weak transcription	Right Ventricle	heart
16	chr7:5015200-5031200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:5015400-5017400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:5015400-5017800	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:5015600-5017400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:5015600-5017400	Weak transcription	Fetal Brain Male	brain
21	chr7:5015600-5020600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:5015600-5029000	Weak transcription	Psoas Muscle	Psoas
23	chr7:5015800-5018200	Genic enhancers	Dnd41	blood
24	chr7:5015800-5018600	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr7:5015800-5020800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:5015800-5021000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:5015800-5021200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:5015800-5021200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:5015800-5023200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:5015800-5039200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:5015800-5041800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:5016000-5018000	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:5016000-5018200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr7:5016000-5018400	Strong transcription	K562	blood
35	chr7:5016000-5018800	Strong transcription	Fetal Kidney	kidney
36	chr7:5016000-5021000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:5016000-5021000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr7:5016000-5021200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:5016000-5021400	Strong transcription	Hela-S3	cervix
40	chr7:5016000-5021400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr7:5016000-5022000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:5016000-5022400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:5016000-5038200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:5016000-5042000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:5016200-5017400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:5016200-5017600	Strong transcription	HSMM	muscle
47	chr7:5016200-5017800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:5016200-5018000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr7:5016200-5018200	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr7:5016200-5018200	Strong transcription	Fetal Brain Female	brain

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