Variant report

Variant	rs61546978
Chromosome Location	chr11:57333671-57333672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57333149..57335001-chr11:57423752..57425633,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172409	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs36112164	1.00[AFR][1000 genomes]
rs58330345	1.00[AFR][1000 genomes]
rs58516757	1.00[AFR][1000 genomes]
rs73478616	1.00[AFR][1000 genomes]
rs73478628	1.00[AFR][1000 genomes]
rs73478629	1.00[AFR][1000 genomes]
rs73478635	1.00[AFR][1000 genomes]
rs73478639	1.00[AFR][1000 genomes]
rs73478647	1.00[AFR][1000 genomes]
rs73478654	1.00[AFR][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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak 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 miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1051032	chr11:57290124-57363064	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv541049	chr11:57290124-57363064	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1052073	chr11:57297499-57362802	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv541050	chr11:57297499-57362802	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers 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	80 gene(s)	inside rSNPs	diseases
9	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57320600-57334800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:57322000-57334600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:57323800-57333800	Weak transcription	Aorta	Aorta
4	chr11:57324000-57334000	Weak transcription	Pancreas	Pancrea
5	chr11:57324400-57333800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:57326800-57333800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:57326800-57334000	Weak transcription	Esophagus	oesophagus
8	chr11:57327000-57333800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:57327000-57334000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:57327600-57333800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:57328000-57333800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:57328000-57334000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:57328000-57334000	Weak transcription	Gastric	stomach
14	chr11:57329800-57334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:57330200-57333800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:57330200-57334000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:57332800-57333800	Enhancers	Spleen	Spleen
18	chr11:57332800-57334000	Enhancers	Lung	lung
19	chr11:57332800-57334800	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr11:57332800-57335000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:57333000-57333800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr11:57333000-57333800	Flanking Active TSS	Dnd41	blood
23	chr11:57333000-57334000	Active TSS	Colonic Mucosa	Colon
24	chr11:57333000-57334000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr11:57333000-57334200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr11:57333000-57334400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr11:57333000-57334800	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr11:57333000-57335000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr11:57333000-57335000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:57333000-57335000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr11:57333200-57333800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:57333200-57333800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr11:57333200-57334000	Active TSS	Stomach Smooth Muscle	stomach
34	chr11:57333200-57334200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:57333200-57334200	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr11:57333200-57334200	Flanking Active TSS	Stomach Mucosa	stomach
37	chr11:57333200-57334400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:57333200-57334400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr11:57333200-57334400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr11:57333200-57334400	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr11:57333200-57334400	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr11:57333200-57334400	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr11:57333200-57334400	Flanking Active TSS	NHLF	lung
44	chr11:57333200-57334600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:57333200-57334800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:57333200-57334800	Flanking Active TSS	Fetal Lung	lung
47	chr11:57333200-57335000	Flanking Active TSS	Liver	Liver
48	chr11:57333200-57335800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:57333200-57336000	Active TSS	GM12878-XiMat	blood
50	chr11:57333200-57336200	Active TSS	Rectal Mucosa Donor 29	rectum

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