Variant report

Variant	rs28683112
Chromosome Location	chr11:17713916-17713917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17713884-17713934	K562	blood:	n/a
2	chr11:17713884-17713934	Jurkat	blood:	n/a
3	chr11:17713884-17713934	NHBE	bronchial:	n/a
4	chr11:17713884-17713934	AG10803	skin:	n/a
5	chr11:17713884-17713934	NH-A	brain:	n/a
6	chr11:17713884-17713934	Hepatocyte	liver:	n/a
7	chr11:17713884-17713934	HPAEpiC	pulmonary alveolar:	n/a
8	chr11:17713884-17713934	Caco-2	colon:	n/a
9	chr11:17713884-17713934	HNPCEpiC	eye:	n/a
10	chr11:17713884-17713934	HCT-116	colon:	n/a
11	chr11:17713884-17713934	HEK293	kidney:	embryo
12	chr11:17713884-17713934	AG09319	gingival:	n/a
13	chr11:17713884-17713934	MCF10A-Er-Src	breast:	n/a
14	chr11:17713884-17713934	GM12892	blood:	n/a
15	chr11:17713884-17713934	MCF-7	breast:	n/a
16	chr11:17713884-17713934	HAEpiC	amniotic membrane:	n/a
17	chr11:17713884-17713934	PFSK-1	brain:	n/a
18	chr11:17713884-17713934	HCM	heart:	n/a
19	chr11:17713884-17713934	RPTEC	kidney:	n/a
20	chr11:17713884-17713934	SAEC	small airway:	n/a
21	chr11:17713884-17713934	SK-N-SH	brain:	n/a
22	chr11:17713884-17713934	GM06990	blood:	n/a
23	chr11:17713884-17713934	ovcar-3	ovarian:	n/a
24	chr11:17713884-17713934	HEEpiC	esophagus:	n/a
25	chr11:17713884-17713934	U87	brain:	n/a
26	chr11:17713884-17713934	HUVEC	blood vessel:	n/a
27	chr11:17713884-17713934	GM12878	blood:	n/a
28	chr11:17713884-17713934	HMEC	breast:	n/a
29	chr11:17713884-17713934	ProgFib	skin:	n/a
30	chr11:17713884-17713934	AG04449	skin:	fetal
31	chr11:17713884-17713934	NT2-D1	testis:	n/a
32	chr11:17713884-17713934	A549	lung:	n/a
33	chr11:17713884-17713934	HCPEpiC	choroid plexus:	n/a
34	chr11:17713884-17713934	AG04450	lung:	fetal
35	chr11:17713884-17713934	PANC-1	pancreas:	n/a
36	chr11:17713884-17713934	SK-N-MC	brain:	n/a
37	chr11:17713884-17713934	IMR90	lung:	fetal
38	chr11:17713884-17713934	GM12891	blood:	n/a
39	chr11:17713884-17713934	SKMC	muscle:	n/a
40	chr11:17713884-17713934	LNCaP	prostate:	n/a
41	chr11:17713884-17713934	HRCEpiC	kidney:	n/a
42	chr11:17713884-17713934	HIPEpiC	eye:	n/a
43	chr11:17713884-17713934	T-47D	breast:	n/a
44	chr11:17713884-17713934	NHDF-neo	bronchial:	n/a
45	chr11:17713884-17713934	Hela-S3	cervix:	n/a
46	chr11:17713884-17713934	GM19239	blood:	n/a
47	chr11:17713884-17713934	CMK	blood:	n/a
48	chr11:17713884-17713934	AG09309	skin:	n/a
49	chr11:17713884-17713934	HRPEpiC	eye:	n/a
50	chr11:17713884-17713934	AoSMC	blood vessel:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17705084..17707821-chr11:17711837..17714694,2	K562	blood:
2	chr11:17710440..17715421-chr11:17715832..17719362,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254586	CpG island
ENSG00000254586	Chromatin interaction
ENSG00000255335	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10741731	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10766418	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10766419	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10766421	0.91[EUR][1000 genomes]
rs10832837	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10832841	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10832844	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11024364	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11024367	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11024368	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11024375	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11605964	0.91[EUR][1000 genomes]
rs12785437	0.95[ASN][1000 genomes]
rs2526551	0.83[EUR][1000 genomes]
rs2878806	0.95[ASN][1000 genomes]
rs2878807	0.95[ASN][1000 genomes]
rs3858499	0.95[ASN][1000 genomes]
rs3858501	0.95[ASN][1000 genomes]
rs3858502	0.95[ASN][1000 genomes]
rs3901370	0.95[ASN][1000 genomes]
rs3935159	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4081578	0.90[EUR][1000 genomes]
rs4141260	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4141261	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4141262	0.88[EUR][1000 genomes]
rs4756905	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4756907	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4757565	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4757567	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4757568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7395942	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7483014	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9633896	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040065	chr11:17556031-17753467	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1044126	chr11:17557715-17730646	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv540953	chr11:17557715-17730646	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv467717	chr11:17713507-17791822	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv553588	chr11:17713507-17791822	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17711200-17714400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:17712600-17714000	Enhancers	HSMM	muscle
3	chr11:17712800-17714400	Enhancers	Fetal Muscle Leg	muscle
4	chr11:17712800-17716000	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr11:17713200-17718000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr11:17713200-17721800	Enhancers	Psoas Muscle	Psoas
7	chr11:17713400-17717200	Enhancers	HSMMtube	muscle

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