Variant report

Variant	rs371004601
Chromosome Location	chr11:45907301-45907302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45868641..45870553-chr11:45905537..45909020,4	K562	blood:
2	chr11:45904999..45908778-chr11:45926674..45929138,4	MCF-7	breast:
3	chr11:45892807..45894535-chr11:45907209..45909004,2	K562	blood:
4	chr11:45867854..45870393-chr11:45906869..45909551,2	MCF-7	breast:
5	chr11:45868680..45870553-chr11:45907106..45909020,2	K562	blood:
6	chr11:45906755..45908288-chr11:45937921..45939853,2	MCF-7	breast:
7	chr11:45904585..45907305-chr11:45939491..45941669,2	K562	blood:

Variant related genes	Relation type
ENSG00000121680	Chromatin interaction
ENSG00000234776	Chromatin interaction
ENSG00000121671	Chromatin interaction
ENSG00000255498	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking 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 target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers 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
5	esv3435139	chr11:45906376-45908374	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45906400-45907400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:45906400-45907800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:45906600-45907400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr11:45906600-45907400	Enhancers	Placenta	Placenta
5	chr11:45906600-45907600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:45906600-45907600	Active TSS	Primary T cells from cord blood	blood
7	chr11:45906600-45907600	Enhancers	Stomach Mucosa	stomach
8	chr11:45906600-45907600	Bivalent/Poised TSS	HSMMtube	muscle
9	chr11:45906600-45907800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:45906600-45908000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr11:45906600-45908000	Active TSS	Fetal Brain Female	brain
12	chr11:45906600-45908200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr11:45906600-45908200	Active TSS	Brain Angular Gyrus	brain
14	chr11:45906600-45908400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr11:45906600-45908400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:45906800-45907400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr11:45906800-45907400	Active TSS	Primary hematopoietic stem cells	blood
18	chr11:45906800-45907400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:45906800-45907400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:45906800-45907400	Enhancers	Aorta	Aorta
21	chr11:45906800-45907600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:45906800-45907600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:45906800-45907600	Active TSS	Colon Smooth Muscle	Colon
24	chr11:45906800-45907600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
25	chr11:45906800-45907600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr11:45906800-45907600	Active TSS	Right Atrium	heart
27	chr11:45906800-45907600	Active TSS	A549	lung
28	chr11:45906800-45907600	Active TSS	HMEC	breast
29	chr11:45906800-45907600	Active TSS	HSMM	muscle
30	chr11:45906800-45907600	Active TSS	NHLF	lung
31	chr11:45906800-45907800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr11:45906800-45907800	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr11:45906800-45907800	Active TSS	HepG2	liver
34	chr11:45906800-45908200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr11:45906800-45908200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr11:45907000-45907400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:45907000-45907400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:45907000-45907400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:45907000-45907400	Enhancers	Primary B cells from peripheral blood	blood
40	chr11:45907000-45907400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr11:45907000-45907400	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr11:45907000-45907400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr11:45907000-45907400	Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr11:45907000-45907400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr11:45907000-45907400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:45907000-45907400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:45907000-45907400	Active TSS	Muscle Satellite Cultured Cells	--
48	chr11:45907000-45907400	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr11:45907000-45907400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:45907000-45907400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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