Variant report

Variant	rs28447397
Chromosome Location	chr7:65553522-65553523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:65553207-65554599	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65550364..65554176-chr7:65578691..65580881,4	K562	blood:

Variant related genes	Relation type
ASL	TF binding region
ENSG00000241258	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10081219	1.00[EUR][1000 genomes]
rs10232498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10234562	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10246941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10247708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10256705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11971942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11979489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11979821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12112556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12113646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28448305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28460479	1.00[AMR][1000 genomes]
rs28535370	1.00[EUR][1000 genomes]
rs28566023	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28578581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28678527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55983755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73699720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73699756	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv984546	chr7:65531382-65556631	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65541600-65565000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:65541800-65554200	Weak transcription	HSMMtube	muscle
3	chr7:65541800-65556800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:65541800-65564600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:65541800-65564600	Weak transcription	Fetal Brain Female	brain
6	chr7:65541800-65564800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:65542000-65553600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:65542000-65554400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:65542000-65559600	Weak transcription	Psoas Muscle	Psoas
10	chr7:65542000-65564600	Weak transcription	Primary B cells from cord blood	blood
11	chr7:65542000-65564800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:65542000-65564800	Weak transcription	Aorta	Aorta
13	chr7:65542000-65564800	Weak transcription	HSMM	muscle
14	chr7:65542200-65556000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:65542200-65564600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:65542200-65564600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:65542200-65564600	Weak transcription	Brain Angular Gyrus	brain
18	chr7:65542200-65564600	Weak transcription	Fetal Kidney	kidney
19	chr7:65542200-65564600	Weak transcription	NH-A	brain
20	chr7:65542200-65564800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:65542400-65556200	Weak transcription	Osteobl	bone
22	chr7:65542400-65564400	Weak transcription	Hela-S3	cervix
23	chr7:65542800-65560600	Strong transcription	Fetal Stomach	stomach
24	chr7:65543000-65564600	Weak transcription	NHDF-Ad	bronchial
25	chr7:65543200-65554600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr7:65543200-65564400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr7:65543400-65558600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:65543400-65558600	Weak transcription	Small Intestine	intestine
29	chr7:65543400-65559200	Strong transcription	Fetal Intestine Large	intestine
30	chr7:65543600-65561400	Strong transcription	Fetal Intestine Small	intestine
31	chr7:65544200-65554000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:65545600-65554800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:65545600-65558200	Strong transcription	Lung	lung
34	chr7:65545800-65554400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:65546000-65555400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr7:65546200-65560600	Strong transcription	Liver	Liver
37	chr7:65546400-65554400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr7:65546400-65559000	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:65546600-65553800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:65546800-65554800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:65548000-65555600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:65548000-65564600	Weak transcription	GM12878-XiMat	blood
43	chr7:65548200-65564600	Weak transcription	Brain Substantia Nigra	brain
44	chr7:65548200-65564800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:65549000-65564600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr7:65549200-65564600	Weak transcription	K562	blood
47	chr7:65549200-65564600	Weak transcription	NHEK	skin
48	chr7:65549400-65556600	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:65549400-65558600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:65549400-65564600	Weak transcription	Primary B cells from peripheral blood	blood

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