Variant report

Variant	rs557763146
Chromosome Location	chr11:46415179-46415180
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46141600..46143492-chr11:46413694..46415670,2	K562	blood:
2	chr11:46414393..46416737-chr11:46429746..46431617,2	K562	blood:
3	chr11:46382758..46384571-chr11:46413597..46415273,2	K562	blood:
4	chr11:46412693..46415235-chr11:46560575..46563535,2	K562	blood:
5	chr11:46413333..46415363-chr11:46417315..46419574,2	MCF-7	breast:
6	chr11:46413148..46415878-chr11:46416015..46418632,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135365	Chromatin interaction
ENSG00000149091	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897318	chr11:46388220-46417815	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
8	nsv897319	chr11:46396479-46417815	Genic enhancers Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv309	chr11:46399678-46440503	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv897320	chr11:46399901-46417815	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv1050614	chr11:46414720-46496732	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46413000-46425000	Weak transcription	Fetal Heart	heart
2	chr11:46414000-46415200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr11:46414200-46415200	Enhancers	Fetal Kidney	kidney
4	chr11:46414200-46415200	Enhancers	Spleen	Spleen
5	chr11:46414200-46429000	Weak transcription	Hela-S3	cervix
6	chr11:46414200-46432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:46414400-46418000	Weak transcription	HSMMtube	muscle
8	chr11:46414600-46415200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:46414600-46415200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr11:46414600-46415200	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr11:46414600-46415200	Flanking Active TSS	HepG2	liver
12	chr11:46414600-46415200	Bivalent Enhancer	NHEK	skin
13	chr11:46414600-46415400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr11:46414600-46417400	Weak transcription	Colonic Mucosa	Colon
15	chr11:46414600-46417400	Weak transcription	Esophagus	oesophagus
16	chr11:46414600-46417600	Weak transcription	Aorta	Aorta
17	chr11:46414600-46418000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:46414600-46418000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:46414600-46418200	Weak transcription	NHLF	lung
20	chr11:46414600-46425800	Weak transcription	HSMM	muscle
21	chr11:46414600-46429200	Weak transcription	HMEC	breast
22	chr11:46414800-46415200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr11:46414800-46415200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr11:46414800-46415200	Bivalent Enhancer	Primary T cells from cord blood	blood
25	chr11:46414800-46415200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
26	chr11:46414800-46415200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr11:46414800-46415200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:46414800-46415400	Enhancers	Fetal Intestine Large	intestine
29	chr11:46414800-46415400	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr11:46414800-46415400	Bivalent Enhancer	Fetal Thymus	thymus
31	chr11:46414800-46415600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:46414800-46416800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:46414800-46417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:46414800-46417400	Weak transcription	Brain Substantia Nigra	brain
35	chr11:46414800-46417400	Weak transcription	Gastric	stomach
36	chr11:46414800-46417400	Weak transcription	Dnd41	blood
37	chr11:46414800-46417600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:46414800-46417600	Weak transcription	Ovary	ovary
39	chr11:46414800-46417600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:46414800-46417600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:46414800-46418000	Weak transcription	Brain Anterior Caudate	brain
42	chr11:46414800-46418000	Weak transcription	Pancreas	Pancrea
43	chr11:46414800-46418000	Weak transcription	GM12878-XiMat	blood
44	chr11:46414800-46418200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:46414800-46418200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:46414800-46418200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr11:46414800-46418400	Weak transcription	Osteobl	bone
48	chr11:46414800-46418800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:46414800-46424200	Weak transcription	Right Atrium	heart
50	chr11:46414800-46424600	Weak transcription	Psoas Muscle	Psoas

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