Variant report

Variant	rs55962689
Chromosome Location	chr11:66596998-66596999
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66595690..66597317-chr11:66600394..66603185,2	MCF-7	breast:
2	chr11:66458929..66464091-chr11:66593960..66597623,5	MCF-7	breast:
3	chr11:66203606..66205813-chr11:66596359..66598283,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174547	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11538048	1.00[AMR][1000 genomes]
rs56049904	1.00[AMR][1000 genomes]
rs56194916	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56705397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56728386	1.00[AMR][1000 genomes]
rs56790408	1.00[AMR][1000 genomes]
rs57237794	1.00[AMR][1000 genomes]
rs57241231	1.00[AMR][1000 genomes]
rs57508396	1.00[AMR][1000 genomes]
rs57550064	1.00[AMR][1000 genomes]
rs57630565	1.00[AMR][1000 genomes]
rs58201175	1.00[AMR][1000 genomes]
rs59057733	1.00[AMR][1000 genomes]
rs59663951	1.00[AMR][1000 genomes]
rs59792175	1.00[AMR][1000 genomes]
rs59868470	1.00[AMR][1000 genomes]
rs60523317	1.00[AMR][1000 genomes]
rs61675228	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv427891	chr11:66456140-66606701	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription 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	70 gene(s)	inside rSNPs	diseases
5	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	nsv508638	chr11:66541653-66643634	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66513400-66606800	Weak transcription	Brain Angular Gyrus	brain
2	chr11:66530000-66605400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:66530600-66600000	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:66544000-66609600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:66554600-66605800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:66556200-66603000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:66556800-66607400	Weak transcription	Fetal Lung	lung
8	chr11:66560400-66605400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:66561600-66609400	Weak transcription	Colonic Mucosa	Colon
10	chr11:66565000-66605400	Weak transcription	Gastric	stomach
11	chr11:66567000-66601600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr11:66567000-66606800	Weak transcription	Brain Anterior Caudate	brain
13	chr11:66567000-66609800	Weak transcription	Ovary	ovary
14	chr11:66568000-66609400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:66568800-66609600	Weak transcription	Fetal Kidney	kidney
16	chr11:66569800-66600000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:66570000-66605400	Weak transcription	HSMMtube	muscle
18	chr11:66570000-66606800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:66571000-66609400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:66571600-66609600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:66571800-66605400	Weak transcription	Lung	lung
22	chr11:66572000-66606600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:66572000-66609200	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:66572600-66597400	Weak transcription	Fetal Heart	heart
25	chr11:66576000-66605400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:66576000-66609600	Weak transcription	Esophagus	oesophagus
27	chr11:66576000-66609800	Weak transcription	Aorta	Aorta
28	chr11:66576200-66605200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:66577000-66609400	Weak transcription	Small Intestine	intestine
30	chr11:66579000-66598400	Weak transcription	Fetal Brain Male	brain
31	chr11:66579400-66598400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:66580600-66606600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr11:66580800-66609600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:66581200-66609800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:66583200-66605200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:66583400-66601400	Weak transcription	Hela-S3	cervix
37	chr11:66583400-66609200	Weak transcription	NH-A	brain
38	chr11:66583600-66603000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:66583600-66603000	Weak transcription	NHDF-Ad	bronchial
40	chr11:66583800-66602000	Weak transcription	HUVEC	blood vessel
41	chr11:66583800-66605200	Weak transcription	NHEK	skin
42	chr11:66584200-66600800	Weak transcription	HMEC	breast
43	chr11:66585200-66609000	Weak transcription	HepG2	liver
44	chr11:66586800-66606600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:66588000-66605400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:66588200-66601400	Weak transcription	Osteobl	bone
47	chr11:66588200-66605600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:66588600-66605200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:66589800-66600000	Weak transcription	Stomach Mucosa	stomach
50	chr11:66590200-66605200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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