Variant report

Variant	rs16912469
Chromosome Location	chr11:92970227-92970228
allele	C/T
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	chr11:92969935-92970227	Spleen_OC	spleen:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
2	CTCF	chr11:92969924-92970244	H1-hESC	embryonic stem cell:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
3	SMC3	chr11:92969929-92970264	HepG2	liver:	n/a	chr11:92970083-92970097
4	RAD21	chr11:92969896-92970247	SK-N-SH_RA	brain:	n/a	chr11:92970083-92970097 chr11:92970079-92970098
5	GTF2F1	chr11:92969940-92970243	Hela-S3	cervix:	n/a	n/a
6	RAD21	chr11:92969863-92970327	H1-hESC	embryonic stem cell:	n/a	chr11:92970083-92970097 chr11:92970079-92970098
7	RAD21	chr11:92969884-92970244	HepG2	liver:	n/a	chr11:92970083-92970097 chr11:92970079-92970098
8	CTCF	chr11:92969878-92970285	HepG2	liver:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
9	RAD21	chr11:92969903-92970290	HepG2	liver:	n/a	chr11:92970083-92970097 chr11:92970079-92970098
10	CTCF	chr11:92969843-92970322	H1-hESC	embryonic stem cell:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
11	RAD21	chr11:92969842-92970333	A549	lung:	n/a	chr11:92970083-92970097 chr11:92970079-92970098
12	CTCF	chr11:92970100-92970250	HAc	cerebellar:	n/a	n/a
13	RAD21	chr11:92969842-92970363	A549	lung:	n/a	chr11:92970083-92970097 chr11:92970079-92970098
14	CTCF	chr11:92969860-92970314	A549	lung:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
15	RAD21	chr11:92969962-92970242	HepG2	liver:	n/a	chr11:92970083-92970097 chr11:92970079-92970098
16	RAD21	chr11:92969770-92970371	HCT-116	colon:	n/a	chr11:92970083-92970097 chr11:92970079-92970098
17	CTCF	chr11:92969905-92970279	IMR90	lung:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
18	RAD21	chr11:92969923-92970244	GM12878	blood:	n/a	chr11:92970083-92970097 chr11:92970079-92970098
19	CTCF	chr11:92969886-92970281	GM12878	blood:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
20	CTCF	chr11:92969961-92970338	HCT-116	colon:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
21	ZNF143	chr11:92969928-92970246	GM12878	blood:	n/a	n/a
22	SMC3	chr11:92969852-92970302	Hela-S3	cervix:	n/a	chr11:92970083-92970097
23	RAD21	chr11:92969843-92970301	H1-hESC	embryonic stem cell:	n/a	chr11:92970083-92970097 chr11:92970079-92970098
24	RAD21	chr11:92969886-92970254	IMR90	lung:	n/a	chr11:92970083-92970097 chr11:92970079-92970098
25	ZNF143	chr11:92969938-92970268	H1-hESC	embryonic stem cell:	n/a	n/a
26	SMC3	chr11:92969944-92970250	K562	blood:	n/a	chr11:92970083-92970097
27	CTCF	chr11:92969791-92970357	HCT-116	colon:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
28	GATA3	chr11:92969884-92970252	T-47D	breast:	n/a	n/a
29	CTCF	chr11:92970220-92970370	A549	lung:	n/a	n/a
30	CTCF	chr11:92969528-92970592	SK-N-SH	brain:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
31	CTCF	chr11:92969862-92970283	K562	blood:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
32	RAD21	chr11:92969691-92970749	SK-N-SH	brain:	n/a	chr11:92970083-92970097 chr11:92970079-92970098
33	ATF1	chr11:92969984-92970234	K562	blood:	n/a	n/a
34	RAD21	chr11:92969907-92970264	MCF-7	breast:	n/a	chr11:92970083-92970097 chr11:92970079-92970098
35	CTCF	chr11:92969954-92970253	K562	blood:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
36	CTCF	chr11:92969850-92970316	MCF-7	breast:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
37	CTCF	chr11:92969968-92970305	MCF-7	breast:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
38	RAD21	chr11:92969777-92970330	HCT-116	colon:	n/a	chr11:92970083-92970097 chr11:92970079-92970098
39	CTCF	chr11:92969924-92970230	SK-N-SH_RA	brain:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
40	RAD21	chr11:92969878-92970302	Hela-S3	cervix:	n/a	chr11:92970083-92970097 chr11:92970079-92970098
41	CTCF	chr11:92969733-92970443	A549	lung:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
42	RFX5	chr11:92969919-92970283	Hela-S3	cervix:	n/a	n/a
43	RAD21	chr11:92969938-92970259	SK-N-SH_RA	brain:	n/a	chr11:92970083-92970097 chr11:92970079-92970098
44	RAD21	chr11:92969871-92970265	H1-hESC	embryonic stem cell:	n/a	chr11:92970083-92970097 chr11:92970079-92970098
45	CTCF	chr11:92969804-92970452	K562	blood:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
46	SMC3	chr11:92969862-92970458	SK-N-SH	brain:	n/a	chr11:92970083-92970097

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:92969790..92970518-chr11:93276340..93277045,2	MCF-7	breast:
2	chr11:92969485..92970477-chr11:93354947..93355840,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255233	TF binding region
ENSG00000166002	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16918752	1.00[AMR][1000 genomes]
rs16918873	1.00[AMR][1000 genomes]
rs16918922	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv898177	chr11:92877533-92971874	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv436	chr11:92967000-92985674	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv514640	chr11:92967440-92972784	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3464353	chr11:92967896-92972804	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3464331	chr11:92967903-92972689	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3464342	chr11:92967919-92972744	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv826034	chr11:92967982-92972677	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv826035	chr11:92967982-92972713	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3464364	chr11:92968000-92972695	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv498765	chr11:92968001-92972695	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92969000-92970400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:92969600-92971000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:92970200-92970400	Enhancers	Rectal Mucosa Donor 31	rectum

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