Variant report

Variant	rs188339291
Chromosome Location	chr11:63724826-63724827
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63724196..63727402-chr11:63741980..63743547,3	MCF-7	breast:
2	chr11:63721106..63724001-chr11:63724769..63727723,3	MCF-7	breast:
3	chr11:63580669..63582800-chr11:63724789..63726503,2	K562	blood:
4	chr11:63602956..63604586-chr11:63723382..63725607,2	K562	blood:
5	chr11:63705830..63707459-chr11:63723406..63725247,2	MCF-7	breast:
6	chr11:63724309..63727008-chr11:63727662..63729826,2	MCF-7	breast:
7	chr11:63708455..63711957-chr11:63724529..63727502,3	K562	blood:
8	chr11:63721885..63726224-chr11:63740500..63742483,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168005	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000256100	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	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	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv825941	chr11:63724276-63724849	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63713200-63725400	Weak transcription	Psoas Muscle	Psoas
2	chr11:63713200-63725800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:63713400-63725200	Strong transcription	Fetal Intestine Small	intestine
4	chr11:63713400-63725400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:63713400-63725800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:63713400-63726200	Strong transcription	Fetal Stomach	stomach
7	chr11:63713400-63726800	Weak transcription	Fetal Brain Male	brain
8	chr11:63713400-63733800	Weak transcription	Right Atrium	heart
9	chr11:63713600-63725200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:63713600-63726000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:63713800-63726000	Strong transcription	Fetal Muscle Leg	muscle
12	chr11:63714000-63726200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr11:63717600-63726200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:63717600-63726200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:63717800-63726000	Strong transcription	Brain Germinal Matrix	brain
16	chr11:63717800-63726000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:63718200-63725800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:63718800-63726000	Strong transcription	Fetal Brain Female	brain
19	chr11:63719200-63725800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:63719400-63726000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:63719600-63725200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:63719600-63725200	Strong transcription	Pancreas	Pancrea
23	chr11:63719600-63725800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr11:63719600-63726000	Strong transcription	Brain Anterior Caudate	brain
25	chr11:63719800-63725600	Strong transcription	Liver	Liver
26	chr11:63719800-63726000	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr11:63719800-63726000	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:63720400-63725400	Strong transcription	Thymus	Thymus
29	chr11:63720400-63725400	Strong transcription	Dnd41	blood
30	chr11:63720400-63725800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:63720400-63726000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:63720400-63728600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:63720400-63729000	Weak transcription	NHDF-Ad	bronchial
34	chr11:63720600-63725200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:63720600-63725800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:63720600-63726000	Strong transcription	Primary T cells from cord blood	blood
37	chr11:63721000-63725000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:63721000-63728800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:63721200-63728400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr11:63721800-63728200	Weak transcription	Stomach Mucosa	stomach
41	chr11:63722000-63729000	Weak transcription	Small Intestine	intestine
42	chr11:63722400-63728200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr11:63722600-63726800	Weak transcription	HUVEC	blood vessel
44	chr11:63723000-63727000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:63723400-63725400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:63723400-63728800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:63723600-63725400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:63723600-63727400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr11:63723600-63728400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:63723600-63728600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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