Variant report

Variant	rs555748293
Chromosome Location	chr11:48002956-48002957
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	chr11:48002635..48003533-chr11:48130431..48131591,3	MCF-7	breast:
2	chr11:48002531..48005255-chr11:48006333..48009338,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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	esv3373486	chr11:48001001-48003549	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48001200-48003200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr11:48001400-48003000	Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr11:48001400-48003000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:48001400-48003000	Active TSS	Brain Germinal Matrix	brain
5	chr11:48001400-48003000	Active TSS	Stomach Smooth Muscle	stomach
6	chr11:48001400-48003200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:48001400-48003200	Active TSS	Brain Cingulate Gyrus	brain
8	chr11:48001400-48003200	Active TSS	Colon Smooth Muscle	Colon
9	chr11:48001400-48003200	Active TSS	Fetal Brain Female	brain
10	chr11:48001400-48003200	Active TSS	Rectal Smooth Muscle	rectum
11	chr11:48001400-48003400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:48001400-48003400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:48001400-48003400	Active TSS	Brain Angular Gyrus	brain
14	chr11:48001400-48003400	Active TSS	Brain Anterior Caudate	brain
15	chr11:48001400-48003600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr11:48001400-48003800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr11:48001600-48003000	Bivalent/Poised TSS	Thymus	Thymus
18	chr11:48001600-48003200	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr11:48001600-48003200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:48001600-48003200	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr11:48001600-48003200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr11:48001600-48003200	Active TSS	Left Ventricle	heart
23	chr11:48001600-48003200	Active TSS	Ovary	ovary
24	chr11:48001600-48003400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:48001600-48003400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:48001600-48003400	Active TSS	Small Intestine	intestine
27	chr11:48001600-48003400	Active TSS	HSMMtube	muscle
28	chr11:48001600-48003600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:48001600-48004000	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr11:48001600-48004000	Active TSS	Gastric	stomach
31	chr11:48001800-48003000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr11:48001800-48003000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:48001800-48003000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:48001800-48003000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr11:48001800-48003000	Weak transcription	Fetal Kidney	kidney
36	chr11:48001800-48003000	Weak transcription	Fetal Lung	lung
37	chr11:48001800-48003000	Active TSS	Placenta	Placenta
38	chr11:48001800-48003000	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr11:48001800-48003000	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr11:48001800-48003200	Active TSS	H1 Cell Line	embryonic stem cell
41	chr11:48001800-48003200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:48001800-48003200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:48001800-48003200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:48001800-48003200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:48001800-48003200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:48001800-48003200	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr11:48001800-48003200	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr11:48001800-48003200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:48001800-48003200	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:48001800-48003200	Active TSS	iPS-20b Cell Line	embryonic stem cell

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