Variant report

Variant	rs530008969
Chromosome Location	chr11:48003617-48003618
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:48003107..48006285-chr11:48013442..48016525,3	MCF-7	breast:
2	chr11:48002531..48005255-chr11:48006333..48009338,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1053145	chr11:47967902-48086950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv870381	chr11:47989434-48142648	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
12	esv3396029	chr11:47993857-48241494	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv317	chr11:47995903-48007266	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3393084	chr11:48000076-48004474	Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3344602	chr11:48001176-48003699	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3346578	chr11:48001401-48004249	Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3340252	chr11:48001426-48003824	Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	TF binding region CpG island 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	chr11:48001400-48003800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:48001600-48004000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:48001600-48004000	Active TSS	Gastric	stomach
4	chr11:48001800-48004000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:48001800-48004600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:48002600-48004000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:48002800-48004000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr11:48002800-48004200	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr11:48002800-48004200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:48002800-48005400	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr11:48003000-48003800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:48003000-48003800	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr11:48003000-48003800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
14	chr11:48003000-48003800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr11:48003000-48003800	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr11:48003000-48004000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr11:48003000-48004000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr11:48003000-48004000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:48003000-48004000	Flanking Active TSS	Placenta	Placenta
20	chr11:48003000-48004000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:48003200-48003800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:48003200-48003800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:48003200-48003800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
24	chr11:48003200-48003800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:48003200-48003800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:48003200-48003800	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr11:48003200-48003800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:48003200-48003800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:48003200-48003800	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr11:48003200-48003800	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr11:48003200-48003800	Flanking Active TSS	Colonic Mucosa	Colon
32	chr11:48003200-48003800	Flanking Active TSS	Fetal Brain Female	brain
33	chr11:48003200-48003800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr11:48003200-48003800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
35	chr11:48003200-48003800	Flanking Active TSS	Left Ventricle	heart
36	chr11:48003200-48003800	Flanking Active TSS	Pancreas	Pancrea
37	chr11:48003200-48003800	Flanking Active TSS	Psoas Muscle	Psoas
38	chr11:48003200-48003800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr11:48003200-48003800	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr11:48003200-48003800	Flanking Active TSS	K562	blood
41	chr11:48003200-48004000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:48003200-48004000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:48003200-48004000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:48003200-48004000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:48003200-48004000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:48003200-48004000	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr11:48003200-48004000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr11:48003200-48004000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr11:48003200-48004000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr11:48003200-48004000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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