Variant report

Variant	rs1257697
Chromosome Location	chr7:40072134-40072135
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39988605..39990899-chr7:40070252..40072464,2	K562	blood:

Variant related genes	Relation type
ENSG00000259826	Chromatin interaction
ENSG00000065883	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1082021	1.00[AMR][1000 genomes]
rs1082022	1.00[AMR][1000 genomes]
rs1082024	1.00[AMR][1000 genomes]
rs1082026	1.00[AMR][1000 genomes]
rs1082027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082033	1.00[AMR][1000 genomes]
rs12112662	0.89[AFR][1000 genomes]
rs12113257	1.00[AMR][1000 genomes]
rs12113345	1.00[AMR][1000 genomes]
rs1257711	1.00[AMR][1000 genomes]
rs1314087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1829909	1.00[AMR][1000 genomes]
rs55825872	1.00[AMR][1000 genomes]
rs55913371	1.00[AMR][1000 genomes]
rs56684313	1.00[AMR][1000 genomes]
rs58681548	1.00[AMR][1000 genomes]
rs73687511	1.00[AMR][1000 genomes]
rs73687519	1.00[AMR][1000 genomes]
rs73687565	1.00[AMR][1000 genomes]
rs773380	1.00[AMR][1000 genomes]
rs773387	1.00[AMR][1000 genomes]
rs773388	1.00[AMR][1000 genomes]
rs773394	1.00[AMR][1000 genomes]
rs773396	1.00[AMR][1000 genomes]
rs773400	1.00[AMR][1000 genomes]
rs773401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773404	1.00[AMR][1000 genomes]
rs773406	1.00[AMR][1000 genomes]
rs773408	1.00[AMR][1000 genomes]
rs773416	1.00[AMR][1000 genomes]
rs773417	1.00[AMR][1000 genomes]
rs773418	1.00[AMR][1000 genomes]
rs773419	1.00[AMR][1000 genomes]
rs773420	1.00[AMR][1000 genomes]
rs773421	1.00[AMR][1000 genomes]
rs773422	1.00[AMR][1000 genomes]
rs773423	1.00[AMR][1000 genomes]
rs808913	1.00[AMR][1000 genomes]
rs9942572	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1015322	chr7:40006195-40141195	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv2761319	chr7:40006195-40142139	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv464436	chr7:40018693-40133044	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv606706	chr7:40018693-40133044	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv606707	chr7:40021044-40133044	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv606708	chr7:40021044-40157040	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv887978	chr7:40030488-40124137	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv429748	chr7:40054760-40140660	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	esv2756801	chr7:40060180-40269583	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	esv2759525	chr7:40060180-40269583	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv887979	chr7:40067021-40193535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv887980	chr7:40067021-40203356	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40020400-40077600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:40025800-40082200	Weak transcription	Spleen	Spleen
3	chr7:40026600-40096800	Weak transcription	Right Ventricle	heart
4	chr7:40028000-40077800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:40028000-40127800	Weak transcription	Colonic Mucosa	Colon
6	chr7:40028200-40073000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:40034400-40072200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:40043600-40076000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:40043600-40079800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:40043600-40095200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:40043600-40127800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:40044400-40096000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:40047600-40102600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:40048000-40102400	Weak transcription	HMEC	breast
15	chr7:40048000-40102400	Weak transcription	NHEK	skin
16	chr7:40048600-40074800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:40049000-40085600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr7:40049000-40085800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:40049000-40096200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:40049200-40074800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:40050000-40075400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr7:40050400-40075000	Weak transcription	Esophagus	oesophagus
23	chr7:40055600-40126400	Weak transcription	Aorta	Aorta
24	chr7:40055800-40074200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:40055800-40077000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:40055800-40077000	Weak transcription	Psoas Muscle	Psoas
27	chr7:40055800-40082600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:40055800-40092200	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:40055800-40097000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:40055800-40102400	Weak transcription	NHLF	lung
31	chr7:40055800-40110000	Weak transcription	Gastric	stomach
32	chr7:40055800-40127600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:40055800-40127600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr7:40056000-40073400	Weak transcription	Brain Angular Gyrus	brain
35	chr7:40056000-40092200	Weak transcription	Brain Substantia Nigra	brain
36	chr7:40056000-40097000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:40056000-40097800	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:40056000-40097800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:40056000-40105400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:40056000-40112200	Weak transcription	HepG2	liver
41	chr7:40056200-40128600	Weak transcription	A549	lung
42	chr7:40058400-40077000	Weak transcription	Osteobl	bone
43	chr7:40058400-40101800	Weak transcription	Fetal Brain Male	brain
44	chr7:40058600-40126800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:40058800-40081200	Weak transcription	Fetal Lung	lung
46	chr7:40059000-40125200	Weak transcription	Fetal Kidney	kidney
47	chr7:40059200-40084800	Weak transcription	Hela-S3	cervix
48	chr7:40059400-40076800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:40059400-40092800	Weak transcription	HSMMtube	muscle
50	chr7:40059600-40073200	Weak transcription	Adipose Nuclei	Adipose

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