Variant report

Variant	rs474053
Chromosome Location	chr11:107309688-107309689
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107308119..107310078-chr11:107327101..107329844,2	K562	blood:

Variant related genes	Relation type
ENSG00000152404	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10458952	0.95[ASN][1000 genomes]
rs11212198	0.87[ASN][1000 genomes]
rs11212208	0.95[ASN][1000 genomes]
rs11212209	0.95[ASN][1000 genomes]
rs11212210	0.95[ASN][1000 genomes]
rs11212212	0.95[ASN][1000 genomes]
rs11212213	0.95[ASN][1000 genomes]
rs11212214	0.95[ASN][1000 genomes]
rs11212215	0.95[ASN][1000 genomes]
rs11212216	0.95[ASN][1000 genomes]
rs11212218	0.95[ASN][1000 genomes]
rs11212221	0.95[ASN][1000 genomes]
rs11212222	0.95[ASN][1000 genomes]
rs11212225	0.95[ASN][1000 genomes]
rs11212226	0.98[ASN][1000 genomes]
rs11212227	0.98[ASN][1000 genomes]
rs11212228	0.98[ASN][1000 genomes]
rs11212229	0.95[ASN][1000 genomes]
rs11212230	0.97[ASN][1000 genomes]
rs11212231	0.93[ASN][1000 genomes]
rs11212232	0.93[ASN][1000 genomes]
rs11212233	0.92[ASN][1000 genomes]
rs11212234	0.92[ASN][1000 genomes]
rs11212237	0.95[ASN][1000 genomes]
rs11212239	0.95[ASN][1000 genomes]
rs11212241	0.82[ASN][1000 genomes]
rs11212243	0.82[ASN][1000 genomes]
rs11212244	0.82[ASN][1000 genomes]
rs11212245	0.82[ASN][1000 genomes]
rs11212246	0.82[ASN][1000 genomes]
rs11212248	0.85[ASN][1000 genomes]
rs12224202	0.95[ASN][1000 genomes]
rs12225955	0.95[ASN][1000 genomes]
rs12274630	0.85[ASN][1000 genomes]
rs17106918	0.95[ASN][1000 genomes]
rs17106969	0.85[ASN][1000 genomes]
rs2276271	0.82[ASN][1000 genomes]
rs501919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524764	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546363	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs576672	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs603918	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608352	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs612080	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs618078	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs629755	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs643392	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs645538	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs654272	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs658584	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs784150	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7925025	0.95[ASN][1000 genomes]
rs7945950	0.85[ASN][1000 genomes]
rs7949914	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898365	chr11:106944975-107430300	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv898366	chr11:106944975-107433835	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv898370	chr11:107027991-107430300	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv898372	chr11:107049968-107433835	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv898373	chr11:107124903-107433835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv832261	chr11:107145901-107321562	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv2756363	chr11:107189790-107376790	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv898375	chr11:107299631-107365191	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv898376	chr11:107299631-107443420	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107241600-107327800	Weak transcription	HSMMtube	muscle
2	chr11:107252600-107323800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:107255000-107327600	Weak transcription	Fetal Heart	heart
4	chr11:107256600-107327600	Weak transcription	NHDF-Ad	bronchial
5	chr11:107258800-107324200	Weak transcription	Small Intestine	intestine
6	chr11:107259600-107323400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:107261600-107310200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:107262200-107324000	Weak transcription	Pancreas	Pancrea
9	chr11:107263200-107310200	Weak transcription	Psoas Muscle	Psoas
10	chr11:107263200-107310400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:107263600-107310600	Weak transcription	Brain Angular Gyrus	brain
12	chr11:107268600-107312200	Weak transcription	K562	blood
13	chr11:107268600-107323400	Weak transcription	Gastric	stomach
14	chr11:107269000-107324600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:107270000-107312400	Weak transcription	Brain Germinal Matrix	brain
16	chr11:107272600-107312600	Weak transcription	Fetal Brain Female	brain
17	chr11:107274400-107312600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:107274600-107312600	Weak transcription	Lung	lung
19	chr11:107274600-107323400	Weak transcription	Esophagus	oesophagus
20	chr11:107275600-107314800	Weak transcription	NHEK	skin
21	chr11:107286600-107322800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:107291400-107324000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:107292800-107327600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:107294200-107317800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:107296400-107323600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:107296800-107325600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:107297200-107324400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:107298200-107310400	Weak transcription	NH-A	brain
29	chr11:107298200-107327400	Weak transcription	A549	lung
30	chr11:107298800-107312200	Weak transcription	HepG2	liver
31	chr11:107298800-107312400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:107299600-107314800	Weak transcription	Fetal Kidney	kidney
33	chr11:107300000-107310000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:107300200-107310400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:107300200-107323200	Weak transcription	HSMM	muscle
36	chr11:107300400-107324200	Weak transcription	NHLF	lung
37	chr11:107300400-107326800	Weak transcription	Hela-S3	cervix
38	chr11:107301000-107326800	Weak transcription	HMEC	breast
39	chr11:107304400-107310200	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:107305000-107319600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr11:107306600-107310200	Weak transcription	Colonic Mucosa	Colon
42	chr11:107306800-107313600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr11:107306800-107318200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr11:107307000-107318800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr11:107307000-107319400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:107307200-107313200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:107307400-107315800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:107307400-107323400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:107307400-107323400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr11:107307600-107323200	Weak transcription	Osteobl	bone

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