Variant report

Variant	rs7801388
Chromosome Location	chr7:111407198-111407199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111405257..111407356-chr7:111411492..111413150,2	K562	blood:
2	chr7:111405315..111407836-chr7:112089357..112090878,2	K562	blood:
3	chr7:111406292..111408372-chr7:111436038..111438457,2	K562	blood:
4	chr7:111398842..111402033-chr7:111404296..111409080,5	K562	blood:
5	chr7:111405315..111407836-chr7:112089271..112090878,3	K562	blood:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11978729	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11981927	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213630	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213631	1.00[MEX][hapmap]
rs3213632	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801780	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56683533	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57136946	0.81[AMR][1000 genomes]
rs58250389	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6964105	0.81[AMR][1000 genomes]
rs73432091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73432092	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73432093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73432094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73432100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73434205	0.81[AMR][1000 genomes]
rs73434206	0.81[AMR][1000 genomes]
rs73434207	0.81[AMR][1000 genomes]
rs73434210	0.81[AMR][1000 genomes]
rs73434211	0.81[AMR][1000 genomes]
rs73434213	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73434215	0.81[AMR][1000 genomes]
rs73434223	0.81[AMR][1000 genomes]
rs73715269	1.00[EUR][1000 genomes]
rs7778290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7778293	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778607	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778828	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793316	0.81[AMR][1000 genomes]
rs7795709	1.00[MEX][hapmap]
rs7809882	1.00[EUR][1000 genomes]
rs9641471	1.00[CHB][hapmap]
rs9918593	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv932103	chr7:111092431-111412049	Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv869375	chr7:111105151-111470811	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv608215	chr7:111183610-111533520	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1028740	chr7:111227747-111679401	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1015267	chr7:111303294-111714771	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv539087	chr7:111303294-111714771	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv539088	chr7:111333899-111722341	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1034375	chr7:111337109-111459099	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111363000-111418000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:111373600-111414000	Weak transcription	Right Ventricle	heart
3	chr7:111379600-111433600	Weak transcription	Esophagus	oesophagus
4	chr7:111384400-111409000	Weak transcription	Fetal Stomach	stomach
5	chr7:111389200-111416800	Weak transcription	Placenta	Placenta
6	chr7:111390400-111435600	Weak transcription	Psoas Muscle	Psoas
7	chr7:111390600-111431800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:111393800-111417000	Weak transcription	Fetal Kidney	kidney
9	chr7:111395000-111416800	Weak transcription	Pancreas	Pancrea
10	chr7:111397200-111411400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:111397200-111411400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:111397200-111421800	Weak transcription	NHDF-Ad	bronchial
13	chr7:111397800-111409000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:111397800-111421200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:111398000-111408800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:111398000-111409200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:111398000-111409400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:111398000-111435000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:111398200-111434000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:111398400-111409200	Weak transcription	HepG2	liver
21	chr7:111399000-111416600	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:111399000-111432800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:111399400-111409000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:111399400-111417600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:111399600-111407600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:111400400-111408200	Weak transcription	Left Ventricle	heart
27	chr7:111400400-111408600	Weak transcription	Fetal Brain Female	brain
28	chr7:111400400-111408800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:111400400-111409000	Weak transcription	Aorta	Aorta
30	chr7:111400400-111409600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:111400400-111411200	Weak transcription	NHLF	lung
32	chr7:111400400-111411400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:111400400-111416600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:111400400-111435800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:111400600-111409200	Weak transcription	Ovary	ovary
36	chr7:111400600-111415400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:111400600-111417800	Weak transcription	Fetal Brain Male	brain
38	chr7:111400800-111407600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:111401200-111408000	Weak transcription	Brain Germinal Matrix	brain
40	chr7:111401200-111409200	Weak transcription	Adipose Nuclei	Adipose
41	chr7:111401800-111417000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:111401800-111418000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:111403800-111413000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:111404000-111409200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:111404000-111411000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:111404000-111416200	Strong transcription	HUVEC	blood vessel
47	chr7:111404200-111408800	Weak transcription	Lung	lung
48	chr7:111404200-111409000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:111404200-111409200	Weak transcription	Brain Angular Gyrus	brain
50	chr7:111404200-111417000	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links