Variant report

Variant	rs540819419
Chromosome Location	chr11:65123474-65123475
allele	C/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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65123191..65124692-chr11:65148640..65151111,2	K562	blood:
2	chr11:65099781..65103974-chr11:65120675..65126515,7	MCF-7	breast:
3	chr11:65101225..65104158-chr11:65123210..65125603,2	K562	blood:
4	chr11:65110991..65113816-chr11:65120865..65125095,4	MCF-7	breast:
5	chr11:65122441..65125170-chr11:69458785..69461711,2	MCF-7	breast:
6	chr11:65123264..65125729-chr11:65322609..65324877,2	K562	blood:
7	chr11:65084600..65086404-chr11:65120200..65124254,3	MCF-7	breast:
8	chr11:65119888..65122132-chr11:65123050..65125503,3	K562	blood:
9	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:
10	chr11:65122004..65123879-chr11:65220475..65223059,2	K562	blood:
11	chr11:65088058..65090877-chr11:65123140..65125273,2	K562	blood:
12	chr11:65121664..65123613-chr11:65147869..65150112,2	MCF-7	breast:
13	chr11:65099718..65102956-chr11:65121267..65125924,4	MCF-7	breast:
14	chr11:65122594..65124302-chr11:65342369..65344295,2	MCF-7	breast:
15	chr11:65122241..65124654-chr11:65375609..65378209,2	MCF-7	breast:
16	chr11:64971476..64974012-chr11:65120745..65123474,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000133884	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000149798	Chromatin interaction
ENSG00000162241	Chromatin interaction
ENSG00000173727	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000014216	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active 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	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
4	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
5	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS 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	999 gene(s)	inside rSNPs	diseases
6	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
7	nsv482159	chr11:65122282-65125082	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65121400-65123600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:65121600-65123600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:65121800-65123600	Active TSS	Aorta	Aorta
4	chr11:65122000-65123600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr11:65122400-65123600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:65122400-65123600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:65122400-65123600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:65122400-65124400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr11:65122600-65123600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr11:65122600-65123600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr11:65122600-65123600	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr11:65122600-65123800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr11:65122600-65123800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr11:65122600-65124000	Enhancers	Spleen	Spleen
15	chr11:65122800-65123600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:65122800-65123600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr11:65122800-65123600	Enhancers	Liver	Liver
18	chr11:65122800-65123600	Bivalent Enhancer	Placenta	Placenta
19	chr11:65122800-65123600	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr11:65122800-65123800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:65122800-65123800	Enhancers	Gastric	stomach
22	chr11:65122800-65123800	Enhancers	Lung	lung
23	chr11:65123000-65123600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:65123000-65123600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:65123000-65123600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr11:65123000-65123600	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr11:65123000-65123600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr11:65123000-65123600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:65123000-65123600	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr11:65123000-65123600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr11:65123000-65123600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
32	chr11:65123000-65123600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
33	chr11:65123000-65123600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr11:65123000-65123600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr11:65123000-65123600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr11:65123000-65123600	Flanking Active TSS	Ovary	ovary
37	chr11:65123000-65123600	Flanking Active TSS	Right Ventricle	heart
38	chr11:65123000-65123600	Flanking Active TSS	Thymus	Thymus
39	chr11:65123000-65123600	Flanking Active TSS	GM12878-XiMat	blood
40	chr11:65123000-65123600	Flanking Active TSS	K562	blood
41	chr11:65123000-65123800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr11:65123000-65123800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr11:65123000-65123800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:65123000-65123800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr11:65123000-65123800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
46	chr11:65123000-65123800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:65123000-65123800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:65123000-65123800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:65123000-65123800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr11:65123000-65123800	Flanking Bivalent TSS/Enh	Osteobl	bone

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