Variant report

Variant	rs73512239
Chromosome Location	chr11:93879738-93879739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93860855..93863542-chr11:93879661..93882968,3	MCF-7	breast:
2	chr11:93877718..93879953-chr11:94225579..94227905,2	K562	blood:

Variant related genes	Relation type
ENSG00000168876	Chromatin interaction
ENSG00000020922	Chromatin interaction
ENSG00000110218	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11822030	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11825553	0.86[AFR][1000 genomes]
rs11825559	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11826118	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11826223	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12276417	1.00[EUR][1000 genomes]
rs1518556	1.00[EUR][1000 genomes]
rs1518557	1.00[EUR][1000 genomes]
rs1518558	1.00[EUR][1000 genomes]
rs1518559	1.00[EUR][1000 genomes]
rs16919776	1.00[EUR][1000 genomes]
rs16919850	1.00[EUR][1000 genomes]
rs16919852	1.00[EUR][1000 genomes]
rs16919866	1.00[EUR][1000 genomes]
rs16919972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2460043	1.00[EUR][1000 genomes]
rs2511377	1.00[EUR][1000 genomes]
rs58814864	1.00[EUR][1000 genomes]
rs59912573	1.00[AMR][1000 genomes]
rs60464761	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60818592	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7102046	1.00[EUR][1000 genomes]
rs7120920	1.00[EUR][1000 genomes]
rs73512242	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512245	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512246	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512249	1.00[AMR][1000 genomes]
rs73512252	1.00[EUR][1000 genomes]
rs73512253	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512254	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512255	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512256	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512257	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512258	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512260	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73525500	1.00[AMR][1000 genomes]
rs73555258	1.00[AMR][1000 genomes]
rs73555259	1.00[AMR][1000 genomes]
rs73555263	1.00[AMR][1000 genomes]
rs983327	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv508651	chr11:93834300-93880470	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv898185	chr11:93851048-93927529	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv469980	chr11:93864321-93962121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv468795	chr11:93864321-93964917	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv555966	chr11:93864321-93964917	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv517664	chr11:93866147-93913036	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93864000-93879800	Weak transcription	Primary T cells from cord blood	blood
2	chr11:93865400-93881600	Weak transcription	Fetal Intestine Small	intestine
3	chr11:93867000-93879800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr11:93867200-93882000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:93867600-93880000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr11:93868200-93886600	Weak transcription	Fetal Brain Female	brain
7	chr11:93868400-93880600	Weak transcription	Fetal Thymus	thymus
8	chr11:93868800-93881000	Weak transcription	Fetal Intestine Large	intestine
9	chr11:93868800-93883800	Weak transcription	Primary B cells from cord blood	blood
10	chr11:93870600-93881000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:93873800-93882200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:93873800-93887200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:93874400-93880200	Enhancers	HepG2	liver
14	chr11:93874600-93880800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:93875000-93880000	Enhancers	A549	lung
16	chr11:93875000-93881000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:93875400-93882600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:93875600-93880000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:93875600-93882400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:93875600-93882400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:93875800-93880400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:93875800-93882600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:93875800-93882800	Weak transcription	Aorta	Aorta
24	chr11:93875800-93883800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:93875800-93884400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:93876000-93880400	Weak transcription	HSMM	muscle
27	chr11:93876000-93880600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:93876000-93880600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:93876000-93882000	Weak transcription	Fetal Muscle Leg	muscle
30	chr11:93876000-93882400	Weak transcription	Fetal Stomach	stomach
31	chr11:93876200-93880800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:93876200-93884400	Weak transcription	HSMMtube	muscle
33	chr11:93876200-93885200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:93876400-93880600	Weak transcription	Brain Germinal Matrix	brain
35	chr11:93876400-93881200	Weak transcription	NHLF	lung
36	chr11:93876400-93881600	Weak transcription	NH-A	brain
37	chr11:93876400-93882000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:93876400-93882200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:93876400-93882400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:93876400-93884000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:93876400-93884400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:93876600-93880600	Weak transcription	Small Intestine	intestine
43	chr11:93876600-93881400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:93876600-93882200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:93876600-93884200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:93876800-93881600	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:93876800-93881600	Weak transcription	NHDF-Ad	bronchial
48	chr11:93876800-93882000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:93876800-93882000	Weak transcription	HUVEC	blood vessel
50	chr11:93876800-93883400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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