Variant report

Variant	rs11238222
Chromosome Location	chr7:52738861-52738862
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	chr7:52737899..52740612-chr7:52858585..52861184,2	K562	blood:
2	chr7:52731842..52733359-chr7:52737655..52740538,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10215607	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10215679	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10246509	0.90[ASN][1000 genomes]
rs10248738	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10249844	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10257682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257932	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258317	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10260750	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10261100	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10273637	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10499705	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11975332	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11978808	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12154920	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12537787	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12540233	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12667401	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12668178	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12670614	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12670627	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12671116	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12672075	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12672814	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12718696	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13228752	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13230804	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1372574	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1372575	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2222790	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2330167	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2330168	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2330169	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28719518	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2877073	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34372916	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35247873	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4538819	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57870362	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58164027	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58217716	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58625406	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59281280	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs60450894	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66696405	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6967498	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6976281	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6980461	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73338768	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73338773	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73338774	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73338782	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73338786	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73338789	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73338790	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73338792	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73338793	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73338794	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73338798	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73338801	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73340703	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888026	chr7:52588348-53013671	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv888027	chr7:52588348-53190508	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1019211	chr7:52706930-52785302	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1023637	chr7:52714035-52742733	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv606989	chr7:52722432-52748535	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv606990	chr7:52724902-52750565	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv606991	chr7:52727932-52743776	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv517177	chr7:52728891-52743776	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv818502	chr7:52728891-52743776	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv17724	chr7:52730103-52745307	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv2421635	chr7:52733291-52743776	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv464446	chr7:52733291-52748535	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv464447	chr7:52733291-52748535	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv606992	chr7:52733291-52748535	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv606993	chr7:52733291-52750565	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv818503	chr7:52733528-52743776	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv526376	chr7:52733528-52748535	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv464448	chr7:52733528-52752234	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv606994	chr7:52733528-52752234	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv606995	chr7:52733528-52757076	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv981771	chr7:52735792-52762504	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv442045	chr7:52736723-52742396	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv2764055	chr7:52736727-52749772	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv514420	chr7:52737058-52742302	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:52737600-52739000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:52738000-52739000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:52738200-52739000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:52738200-52739000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:52738200-52739200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:52738200-52739200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:52738400-52739000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr7:52738400-52739000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:52738600-52739200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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