Variant report

Variant	rs10252167
Chromosome Location	chr7:111396880-111396881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111395713..111398642-chr7:111400360..111402475,3	K562	blood:
2	chr7:111389145..111391485-chr7:111396422..111399124,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10232609	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10234914	0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11761844	0.81[ASN][1000 genomes]
rs11770157	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs12705798	0.83[ASN][1000 genomes]
rs2074116	1.00[CHB][hapmap]
rs2074118	0.89[ASN][1000 genomes]
rs2074119	0.93[CHB][hapmap]
rs3735534	0.82[ASN][1000 genomes]
rs3801789	0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs4727760	0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6466387	0.82[ASN][1000 genomes]
rs66549098	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs67519636	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs718845	0.86[CEU][hapmap];0.84[CHB][hapmap];0.86[YRI][hapmap];0.86[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:81 , 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	chr7:111367400-111401600	Weak transcription	Colonic Mucosa	Colon
3	chr7:111373600-111414000	Weak transcription	Right Ventricle	heart
4	chr7:111376000-111399600	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:111376600-111397000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:111376600-111398200	Weak transcription	A549	lung
7	chr7:111379600-111398000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:111379600-111433600	Weak transcription	Esophagus	oesophagus
9	chr7:111379800-111398600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:111383800-111400200	Weak transcription	Aorta	Aorta
11	chr7:111384400-111409000	Weak transcription	Fetal Stomach	stomach
12	chr7:111385200-111397000	Weak transcription	NH-A	brain
13	chr7:111385200-111399400	Weak transcription	NHEK	skin
14	chr7:111385400-111398000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:111385600-111403600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:111387400-111397000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:111387400-111398000	Weak transcription	Ovary	ovary
18	chr7:111389200-111416800	Weak transcription	Placenta	Placenta
19	chr7:111390400-111435600	Weak transcription	Psoas Muscle	Psoas
20	chr7:111390600-111431800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:111390800-111401600	Weak transcription	Fetal Intestine Large	intestine
22	chr7:111391200-111398200	Weak transcription	HepG2	liver
23	chr7:111391400-111401200	Weak transcription	Hela-S3	cervix
24	chr7:111393200-111401800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:111393200-111401800	Strong transcription	HUVEC	blood vessel
26	chr7:111393600-111397600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr7:111393600-111398800	Enhancers	Brain Angular Gyrus	brain
28	chr7:111393800-111398200	Genic enhancers	Fetal Lung	lung
29	chr7:111393800-111417000	Weak transcription	Fetal Kidney	kidney
30	chr7:111394200-111401800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:111394600-111398000	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:111395000-111397400	Weak transcription	Left Ventricle	heart
33	chr7:111395000-111400000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:111395000-111416800	Weak transcription	Pancreas	Pancrea
35	chr7:111395200-111400800	Strong transcription	Liver	Liver
36	chr7:111395800-111397000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:111395800-111397000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:111395800-111397800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:111396000-111397000	Weak transcription	Brain Substantia Nigra	brain
40	chr7:111396400-111398000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:111396400-111398200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:111396400-111399000	Strong transcription	Lung	lung
43	chr7:111396600-111397000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr7:111396600-111397000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr7:111396600-111397000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:111396600-111397000	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr7:111396600-111397000	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr7:111396600-111397200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:111396600-111397400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:111396600-111397600	Enhancers	HUES6 Cell Line	embryonic stem cell

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