Variant report

Variant	rs11231619
Chromosome Location	chr11:63625460-63625461
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	chr11:63625137..63626713-chr11:63634988..63636619,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10897457	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231605	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231615	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231620	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231621	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11231630	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231631	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850942	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886103	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886104	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886106	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886131	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886132	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886133	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61886134	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933791	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949291	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952270	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958333	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9735314	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63609600-63629600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:63610200-63633200	Weak transcription	Fetal Brain Male	brain
3	chr11:63611800-63629800	Weak transcription	Aorta	Aorta
4	chr11:63613200-63625600	Weak transcription	HUVEC	blood vessel
5	chr11:63613200-63626200	Weak transcription	NHLF	lung
6	chr11:63613200-63632400	Weak transcription	Fetal Brain Female	brain
7	chr11:63613200-63633000	Weak transcription	HSMM	muscle
8	chr11:63615800-63628200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:63615800-63633200	Weak transcription	HMEC	breast
10	chr11:63615800-63634800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:63615800-63636000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:63615800-63636000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:63615800-63636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:63617000-63629600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:63617200-63629400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:63618600-63625800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr11:63618800-63625600	Weak transcription	Left Ventricle	heart
18	chr11:63618800-63625800	Weak transcription	Colonic Mucosa	Colon
19	chr11:63618800-63626600	Weak transcription	Lung	lung
20	chr11:63618800-63629000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:63618800-63629000	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:63619000-63632600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:63619200-63626000	Weak transcription	Osteobl	bone
24	chr11:63619200-63628400	Weak transcription	NHEK	skin
25	chr11:63619200-63629200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:63619200-63629200	Weak transcription	Thymus	Thymus
27	chr11:63619200-63638000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:63619400-63626200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:63619400-63626200	Weak transcription	Right Ventricle	heart
30	chr11:63619400-63629600	Weak transcription	Liver	Liver
31	chr11:63619400-63629600	Weak transcription	Esophagus	oesophagus
32	chr11:63619400-63639400	Weak transcription	Ovary	ovary
33	chr11:63619600-63625800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:63619600-63626000	Weak transcription	Brain Anterior Caudate	brain
35	chr11:63619600-63626000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:63619600-63626200	Weak transcription	Brain Angular Gyrus	brain
37	chr11:63619600-63629600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:63619600-63629800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:63619600-63630200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:63619600-63633000	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:63619600-63633000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr11:63619600-63634000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:63619600-63636000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:63619600-63636000	Weak transcription	HSMMtube	muscle
45	chr11:63619600-63639200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:63619800-63625800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:63619800-63626000	Weak transcription	Brain Substantia Nigra	brain
48	chr11:63620400-63629400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:63621200-63629800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:63621600-63627800	Genic enhancers	Fetal Intestine Small	intestine

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