Variant report

Variant	rs75449951
Chromosome Location	chr11:47521945-47521946
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47495927..47498888-chr11:47520821..47523109,2	MCF-7	breast:
2	chr11:47508773..47510802-chr11:47519737..47522301,2	MCF-7	breast:
3	chr11:47515511..47517710-chr11:47521817..47524345,2	MCF-7	breast:
4	chr11:47521843..47524187-chr11:47526565..47529247,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149187	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer 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	nsv972949	chr11:47521522-47525037	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47489200-47522800	Strong transcription	Fetal Thymus	thymus
2	chr11:47507000-47528200	Weak transcription	Small Intestine	intestine
3	chr11:47507200-47522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:47508400-47530200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:47509000-47534400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:47509200-47530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:47510200-47536800	Weak transcription	Fetal Kidney	kidney
8	chr11:47510800-47529800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:47511000-47525000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:47511200-47528600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:47513000-47525000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:47513200-47523000	Strong transcription	Dnd41	blood
13	chr11:47513400-47528400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:47513800-47523000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:47514400-47522800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr11:47515600-47528200	Weak transcription	NH-A	brain
17	chr11:47516400-47523000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr11:47516800-47522200	Weak transcription	Placenta	Placenta
19	chr11:47516800-47523000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:47516800-47530200	Weak transcription	Colonic Mucosa	Colon
21	chr11:47517200-47523000	Enhancers	Fetal Heart	heart
22	chr11:47517400-47523400	Strong transcription	NHEK	skin
23	chr11:47517600-47523800	Enhancers	Colon Smooth Muscle	Colon
24	chr11:47518000-47522200	Weak transcription	Osteobl	bone
25	chr11:47518600-47522600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:47518600-47526200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:47519000-47529200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:47519200-47523200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:47519200-47526600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:47519200-47527000	Strong transcription	Hela-S3	cervix
31	chr11:47519400-47523400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr11:47519600-47524800	Enhancers	Brain Anterior Caudate	brain
33	chr11:47519800-47522000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr11:47519800-47523000	Enhancers	Brain Cingulate Gyrus	brain
35	chr11:47519800-47523000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:47519800-47523200	Enhancers	Brain Angular Gyrus	brain
37	chr11:47519800-47523200	Enhancers	Brain Hippocampus Middle	brain
38	chr11:47520000-47522200	Strong transcription	HMEC	breast
39	chr11:47520000-47522400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:47520000-47522800	Enhancers	Primary hematopoietic stem cells	blood
41	chr11:47520000-47525000	Weak transcription	Fetal Intestine Small	intestine
42	chr11:47520000-47528200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:47520200-47522200	Enhancers	Primary B cells from cord blood	blood
44	chr11:47520200-47522200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:47520200-47523200	Genic enhancers	K562	blood
46	chr11:47520400-47523400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr11:47520400-47524000	Strong transcription	HSMM	muscle
48	chr11:47520400-47526000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:47520400-47528800	Weak transcription	Thymus	Thymus
50	chr11:47520400-47529000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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