Variant report

Variant	rs55970722
Chromosome Location	chr11:63920889-63920890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63898040..63900955-chr11:63917513..63921535,3	K562	blood:
2	chr11:63919664..63921354-chr11:63949553..63952240,2	MCF-7	breast:
3	chr11:63802623..63804880-chr11:63918427..63921205,3	K562	blood:
4	chr11:63919174..63921572-chr11:63931530..63934413,3	K562	blood:
5	chr11:63919075..63921037-chr11:63953644..63955908,2	MCF-7	breast:
6	chr11:63914043..63916614-chr11:63918167..63922101,5	MCF-7	breast:
7	chr11:63908787..63911048-chr11:63919797..63921636,2	MCF-7	breast:
8	chr11:63919730..63922683-chr11:64013318..64014860,2	MCF-7	breast:
9	chr11:63751703..63753930-chr11:63920055..63922868,2	MCF-7	breast:
10	chr11:63604695..63605339-chr11:63920239..63921053,3	K562	blood:
11	chr11:63890559..63892609-chr11:63919127..63921688,2	MCF-7	breast:
12	chr11:63919286..63923231-chr11:63930943..63934500,5	MCF-7	breast:
13	chr11:63920868..63922504-chr11:63931262..63933455,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168439	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000256940	Chromatin interaction
ENSG00000173457	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000256824	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10897474	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231704	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1123251	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186643	0.82[ASN][1000 genomes]
rs2325786	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2325787	0.83[ASN][1000 genomes]
rs4980525	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs627055	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[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	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
3	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
4	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv832184	chr11:63787702-63925084	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
7	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
8	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
9	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
10	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
11	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
12	esv1801661	chr11:63894054-63937949	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv897663	chr11:63910153-63962152	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	n/a
14	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS 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 miRNA target site	237 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63900200-63931800	Weak transcription	Lung	lung
2	chr11:63911600-63932600	Weak transcription	Primary T cells from cord blood	blood
3	chr11:63914000-63921600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:63916200-63921000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:63916200-63924200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:63916200-63932000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:63916400-63921400	Enhancers	Brain Germinal Matrix	brain
8	chr11:63916400-63932000	Weak transcription	Stomach Mucosa	stomach
9	chr11:63916600-63932200	Weak transcription	Fetal Intestine Large	intestine
10	chr11:63918200-63932200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:63918600-63931800	Weak transcription	Gastric	stomach
12	chr11:63919000-63923800	Weak transcription	Left Ventricle	heart
13	chr11:63919000-63932000	Weak transcription	Adipose Nuclei	Adipose
14	chr11:63919200-63921600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr11:63919200-63924000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:63919200-63928800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:63919400-63921200	Enhancers	Fetal Muscle Leg	muscle
18	chr11:63919800-63921600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:63920000-63921000	Enhancers	Brain Cingulate Gyrus	brain
20	chr11:63920000-63925600	Weak transcription	Fetal Intestine Small	intestine
21	chr11:63920200-63921000	Enhancers	Primary B cells from peripheral blood	blood
22	chr11:63920200-63921000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr11:63920200-63921000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr11:63920200-63921000	Enhancers	Brain Anterior Caudate	brain
25	chr11:63920200-63921000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr11:63920200-63921000	Enhancers	Dnd41	blood
27	chr11:63920200-63921200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr11:63920200-63921200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:63920200-63921200	Enhancers	Fetal Thymus	thymus
30	chr11:63920200-63921600	Enhancers	Right Ventricle	heart
31	chr11:63920200-63921800	Enhancers	Ovary	ovary
32	chr11:63920200-63921800	Enhancers	K562	blood
33	chr11:63920200-63922000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr11:63920200-63922000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr11:63920200-63922000	Enhancers	Spleen	Spleen
36	chr11:63920200-63922200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:63920200-63922400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr11:63920200-63931800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:63920400-63921000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr11:63920400-63921000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr11:63920400-63921000	Enhancers	Colon Smooth Muscle	Colon
42	chr11:63920400-63921000	Enhancers	Small Intestine	intestine
43	chr11:63920400-63921000	Enhancers	A549	lung
44	chr11:63920400-63921200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:63920400-63922000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr11:63920400-63922000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:63920400-63922000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr11:63920400-63922400	Enhancers	HepG2	liver
49	chr11:63920600-63921000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:63920600-63921000	Enhancers	Brain Hippocampus Middle	brain

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