Variant report

Variant	rs55982441
Chromosome Location	chr11:65888004-65888005
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65887286..65888969-chr11:65890476..65893047,2	K562	blood:
2	chr11:65836821..65841267-chr11:65881295..65888359,12	MCF-7	breast:
3	chr11:65847868..65850346-chr11:65885324..65888259,3	MCF-7	breast:
4	chr11:65887917..65890389-chr11:65892818..65895430,3	K562	blood:
5	chr11:65778443..65780993-chr11:65885172..65889100,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255038	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000175315	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55701638	1.00[ASN][1000 genomes]
rs559298	1.00[ASN][1000 genomes]
rs72932632	1.00[ASN][1000 genomes]
rs72936614	1.00[ASN][1000 genomes]
rs72936653	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72936669	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	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65868600-65893800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:65876800-65888400	Enhancers	Primary B cells from peripheral blood	blood
3	chr11:65879400-65889400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:65880400-65905000	Weak transcription	Fetal Stomach	stomach
5	chr11:65880600-65894400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:65881000-65892000	Weak transcription	Brain Anterior Caudate	brain
7	chr11:65881000-65894600	Weak transcription	Gastric	stomach
8	chr11:65881400-65888600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:65881600-65893800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:65883800-65888800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr11:65883800-65894400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:65884000-65890400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr11:65884000-65893400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:65884200-65888600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:65884200-65890200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr11:65884200-65894200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:65884600-65888200	Enhancers	GM12878-XiMat	blood
18	chr11:65884600-65889800	Enhancers	Primary T cells from cord blood	blood
19	chr11:65884600-65890400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:65884600-65893600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:65884600-65893600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:65884800-65888800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:65884800-65889200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr11:65885000-65893000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:65885400-65888800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:65885400-65888800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:65885600-65888200	Enhancers	HUVEC	blood vessel
28	chr11:65885600-65888600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:65885600-65892800	Weak transcription	Primary B cells from cord blood	blood
30	chr11:65885600-65893000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr11:65885600-65893600	Weak transcription	Thymus	Thymus
32	chr11:65885800-65888600	Enhancers	Placenta	Placenta
33	chr11:65885800-65888600	Enhancers	Ovary	ovary
34	chr11:65885800-65888800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:65885800-65888800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:65885800-65890200	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr11:65885800-65890600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr11:65886000-65890000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:65886000-65890200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr11:65886000-65890800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:65886400-65888200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:65886400-65888400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr11:65886600-65892200	Weak transcription	Esophagus	oesophagus
44	chr11:65886600-65893200	Weak transcription	Fetal Thymus	thymus
45	chr11:65887000-65888800	Enhancers	Fetal Heart	heart
46	chr11:65887200-65888200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:65887200-65888200	Enhancers	NHEK	skin
48	chr11:65887200-65888400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:65887200-65890000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:65887200-65893600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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