Variant report

Variant	rs11212249
Chromosome Location	chr11:107324338-107324339
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	chr11:107321712..107324920-chr11:107324966..107329578,5	K562	blood:
2	chr11:107317620..107320783-chr11:107322990..107325407,3	K562	blood:

Variant related genes	Relation type
ENSG00000152404	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10047417	1.00[AMR][1000 genomes]
rs10047418	1.00[AMR][1000 genomes]
rs10047505	1.00[AMR][1000 genomes]
rs10160611	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10454491	1.00[AMR][1000 genomes]
rs10502089	1.00[AMR][1000 genomes]
rs10502095	1.00[EUR][1000 genomes]
rs11212126	1.00[AMR][1000 genomes]
rs11212139	1.00[AMR][1000 genomes]
rs11212140	1.00[AMR][1000 genomes]
rs11212165	1.00[AMR][1000 genomes]
rs11212168	1.00[AMR][1000 genomes]
rs11212170	1.00[AMR][1000 genomes]
rs11212192	1.00[AMR][1000 genomes]
rs11212223	1.00[AMR][1000 genomes]
rs11212235	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11212247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11212252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11212267	1.00[EUR][1000 genomes]
rs11500987	1.00[AMR][1000 genomes]
rs12269789	1.00[AMR][1000 genomes]
rs12272489	1.00[AMR][1000 genomes]
rs12272847	1.00[AMR][1000 genomes]
rs12274369	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275816	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12277490	1.00[AMR][1000 genomes]
rs12277540	1.00[AMR][1000 genomes]
rs12277661	1.00[AMR][1000 genomes]
rs12278176	1.00[AMR][1000 genomes]
rs12284248	1.00[AMR][1000 genomes]
rs12285786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12285847	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288889	1.00[AMR][1000 genomes]
rs12290608	1.00[AMR][1000 genomes]
rs12293064	1.00[AMR][1000 genomes]
rs12293353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12421850	1.00[EUR][1000 genomes]
rs13377393	1.00[AMR][1000 genomes]
rs17106930	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17106980	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17107135	1.00[EUR][1000 genomes]
rs478625	1.00[EUR][1000 genomes]
rs509186	1.00[EUR][1000 genomes]
rs529552	1.00[EUR][1000 genomes]
rs55928933	1.00[EUR][1000 genomes]
rs564837	1.00[EUR][1000 genomes]
rs590334	1.00[EUR][1000 genomes]
rs602435	1.00[EUR][1000 genomes]
rs61200975	1.00[EUR][1000 genomes]
rs617109	1.00[EUR][1000 genomes]
rs633192	1.00[EUR][1000 genomes]
rs680830	1.00[EUR][1000 genomes]
rs7121279	1.00[EUR][1000 genomes]
rs7123777	1.00[EUR][1000 genomes]
rs73549860	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73549861	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7358411	1.00[AMR][1000 genomes]
rs7358412	1.00[AMR][1000 genomes]
rs7928774	1.00[EUR][1000 genomes]
rs9943533	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
11	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
12	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
13	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
14	nsv898377	chr11:107316499-107354312	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv2757476	chr11:107324276-107344568	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers 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
16	esv2759864	chr11:107324276-107344568	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107241600-107327800	Weak transcription	HSMMtube	muscle
2	chr11:107255000-107327600	Weak transcription	Fetal Heart	heart
3	chr11:107256600-107327600	Weak transcription	NHDF-Ad	bronchial
4	chr11:107269000-107324600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:107292800-107327600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:107296800-107325600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:107297200-107324400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:107298200-107327400	Weak transcription	A549	lung
9	chr11:107300400-107326800	Weak transcription	Hela-S3	cervix
10	chr11:107301000-107326800	Weak transcription	HMEC	breast
11	chr11:107307800-107326800	Weak transcription	Fetal Brain Male	brain
12	chr11:107311000-107327400	Weak transcription	Psoas Muscle	Psoas
13	chr11:107313000-107327400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:107313400-107327600	Weak transcription	Brain Substantia Nigra	brain
15	chr11:107315400-107326800	Weak transcription	NHEK	skin
16	chr11:107315800-107324800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:107317000-107326800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:107319000-107325800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:107319200-107326600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:107319800-107326400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:107320400-107326400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:107320800-107326000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:107321600-107325000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:107321600-107326400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:107322200-107325200	Strong transcription	GM12878-XiMat	blood
26	chr11:107322200-107326000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr11:107322200-107326400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:107322400-107325000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:107322400-107325800	Strong transcription	Liver	Liver
30	chr11:107322400-107325800	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:107322400-107326000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:107322600-107324400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:107322600-107325000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr11:107322600-107325000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:107322600-107325000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr11:107322600-107325200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:107322600-107325200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:107322600-107325200	Strong transcription	Adipose Nuclei	Adipose
39	chr11:107322600-107325400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:107322600-107325400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:107322600-107325800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr11:107322800-107325000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr11:107322800-107325000	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:107322800-107326200	Strong transcription	Dnd41	blood
45	chr11:107323000-107325000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:107323000-107325400	Strong transcription	Placenta	Placenta
47	chr11:107323200-107325000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:107323200-107325000	Strong transcription	Primary B cells from cord blood	blood
49	chr11:107323200-107325000	Strong transcription	Primary hematopoietic stem cells	blood
50	chr11:107323200-107325000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links