Variant report

Variant	rs16935117
Chromosome Location	chr11:18193092-18193093
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	CTCF	chr11:18193020-18193170	AG09309	skin:	n/a	chr11:18193103-18193112
2	CTCF	chr11:18193020-18193170	GM12866	blood:	n/a	chr11:18193103-18193112
3	CTCF	chr11:18193000-18193150	HUVEC	blood vessel:	n/a	chr11:18193103-18193112
4	CTCF	chr11:18193000-18193150	GM12874	blood:	n/a	chr11:18193103-18193112
5	CTCF	chr11:18193012-18193197	GM10248	blood:	n/a	chr11:18193103-18193112
6	CTCF	chr11:18193060-18193210	BE2_C	brain:	n/a	chr11:18193103-18193112
7	CTCF	chr11:18193020-18193170	HL-60	blood:	n/a	chr11:18193103-18193112
8	CTCF	chr11:18193020-18193170	GM12865	blood:	n/a	chr11:18193103-18193112
9	CTCF	chr11:18193040-18193190	SK-N-SH_RA	brain:	n/a	chr11:18193103-18193112
10	CTCF	chr11:18193021-18193165	Kidney_OC	kidney:	n/a	chr11:18193103-18193112
11	CTCF	chr11:18192978-18193213	ProgFib	skin:	n/a	chr11:18193103-18193112
12	RAD21	chr11:18192875-18193371	ECC-1	luminal epithelium:	n/a	n/a
13	CTCF	chr11:18193040-18193190	GM12873	blood:	n/a	chr11:18193103-18193112
14	RAD21	chr11:18192923-18193294	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr11:18193000-18193150	GM12875	blood:	n/a	chr11:18193103-18193112
16	CTCF	chr11:18192980-18193130	HFF-Myc	foreskin:	n/a	chr11:18193103-18193112
17	CTCF	chr11:18193060-18193210	SAEC	small airway:	n/a	chr11:18193103-18193112
18	CTCF	chr11:18193020-18193170	SAEC	small airway:	n/a	chr11:18193103-18193112
19	SMC3	chr11:18192820-18193456	SK-N-SH	brain:	n/a	chr11:18193105-18193113
20	CTCF	chr11:18193040-18193190	Caco-2	colon:	n/a	chr11:18193103-18193112
21	CTCF	chr11:18193020-18193170	AG04449	skin:	n/a	chr11:18193103-18193112
22	CTCF	chr11:18193040-18193190	GM06990	blood:	n/a	chr11:18193103-18193112
23	CTCF	chr11:18193040-18193190	WI-38	lung:	n/a	chr11:18193103-18193112
24	CTCF	chr11:18193040-18193190	NHLF	lung:	n/a	chr11:18193103-18193112
25	CTCF	chr11:18192967-18193232	GM19238	blood:	n/a	chr11:18193103-18193112
26	CTCF	chr11:18193020-18193170	GM12869	blood:	n/a	chr11:18193103-18193112
27	CTCF	chr11:18193020-18193170	HPAF	blood vessel:	n/a	chr11:18193103-18193112
28	CTCF	chr11:18193000-18193150	WERI-Rb-1	eye:	n/a	chr11:18193103-18193112
29	ZNF143	chr11:18192946-18193304	GM12878	blood:	n/a	n/a
30	CTCF	chr11:18192982-18193248	K562	blood:	n/a	chr11:18193103-18193112
31	CTCF	chr11:18192882-18193577	MCF-7	breast:	n/a	chr11:18193103-18193112
32	CTCF	chr11:18193020-18193170	Hela-S3	cervix:	n/a	chr11:18193103-18193112
33	CTCF	chr11:18193020-18193170	HCPEpiC	choroid plexus:	n/a	chr11:18193103-18193112
34	CTCF	chr11:18193040-18193190	HUVEC	blood vessel:	n/a	chr11:18193103-18193112
35	CTCF	chr11:18192916-18193345	K562	blood:	n/a	chr11:18193103-18193112
36	RAD21	chr11:18192838-18193378	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr11:18193020-18193170	NHDF-neo	bronchial:	n/a	chr11:18193103-18193112
38	CTCF	chr11:18193028-18193183	Lung_OC	lung:	n/a	chr11:18193103-18193112
39	RAD21	chr11:18192907-18193186	GM12878	blood:	n/a	n/a
40	CTCF	chr11:18193020-18193170	HA-sp	spinal cord:	n/a	chr11:18193103-18193112
41	CTCF	chr11:18193011-18193164	SK-N-SH_RA	brain:	n/a	chr11:18193103-18193112
42	ZNF143	chr11:18193014-18193180	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr11:18193060-18193210	A549	lung:	n/a	chr11:18193103-18193112
44	RFX5	chr11:18193020-18193173	Hela-S3	cervix:	n/a	n/a
45	MYC	chr11:18193084-18193278	MCF10A-Er-Src	breast:	n/a	n/a
46	CTCF	chr11:18193020-18193170	GM12867	blood:	n/a	chr11:18193103-18193112
47	CTCF	chr11:18193040-18193190	WERI-Rb-1	eye:	n/a	chr11:18193103-18193112
48	RAD21	chr11:18192904-18193467	MCF-7	breast:	n/a	n/a
49	CTCF	chr11:18192979-18193214	Fibrobl	skin:	n/a	chr11:18193103-18193112
50	CTCF	chr11:18193040-18193190	K562	blood:	n/a	chr11:18193103-18193112

No.	Distal block	Cell Line	Cell type
1	chr11:18137193..18137763-chr11:18192627..18193399,2	MCF-7	breast:
2	chr11:18192847..18193418-chr11:18785532..18786067,2	MCF-7	breast:
3	chr11:18192652..18193394-chr11:18672481..18673351,2	K562	blood:
4	chr11:18192633..18193561-chr11:18225013..18225969,5	MCF-7	breast:
5	chr11:18193078..18193637-chr11:18785527..18786047,2	K562	blood:

Variant related genes	Relation type
MRGPRX4	TF binding region
ENSG00000166787	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10466422	1.00[AMR][1000 genomes]
rs11024459	1.00[AMR][1000 genomes]
rs11024463	1.00[AMR][1000 genomes]
rs11024464	1.00[AMR][1000 genomes]
rs11024481	1.00[AMR][1000 genomes]
rs11024483	1.00[AMR][1000 genomes]
rs12270273	1.00[AMR][1000 genomes]
rs12276137	1.00[AMR][1000 genomes]
rs12289911	1.00[AMR][1000 genomes]
rs12290774	1.00[AMR][1000 genomes]
rs12290775	1.00[AMR][1000 genomes]
rs12291516	1.00[AMR][1000 genomes]
rs12292912	1.00[AMR][1000 genomes]
rs12293054	1.00[AMR][1000 genomes]
rs12294948	1.00[AMR][1000 genomes]
rs12295348	1.00[AMR][1000 genomes]
rs12295423	1.00[AMR][1000 genomes]
rs13377295	1.00[AMR][1000 genomes]
rs13377403	1.00[AMR][1000 genomes]
rs16924922	1.00[AFR][1000 genomes]
rs16934928	1.00[AMR][1000 genomes]
rs16934941	1.00[AMR][1000 genomes]
rs16935070	1.00[YRI][hapmap]
rs16935074	1.00[YRI][hapmap]
rs16935076	1.00[YRI][hapmap]
rs16935164	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs16935166	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs16935167	0.93[AFR][1000 genomes]
rs16935174	1.00[YRI][hapmap]
rs16935178	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs16935181	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs16935189	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs2403252	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs28482781	1.00[AMR][1000 genomes]
rs4408287	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs4590847	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs7106562	1.00[AMR][1000 genomes]
rs7110450	1.00[AMR][1000 genomes]
rs7120654	1.00[AMR][1000 genomes]
rs7121325	1.00[AMR][1000 genomes]
rs7129230	1.00[AMR][1000 genomes]
rs7938082	1.00[AMR][1000 genomes]
rs7948660	1.00[AMR][1000 genomes]
rs871698	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	esv11709	chr11:18138662-18200717	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3367251	chr11:18159957-18196082	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv518373	chr11:18164687-18195348	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv16635	chr11:18165268-18194893	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2762898	chr11:18166780-18198880	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1038257	chr11:18169410-18198309	Enhancers Bivalent Enhancer Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv971991	chr11:18189697-18200475	Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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