Variant report

Variant	rs190248672
Chromosome Location	chr11:45907763-45907764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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	chr11:45907661..45910600-chr11:45912657..45914797,3	MCF-7	breast:
4	chr11:45892807..45894535-chr11:45907209..45909004,2	K562	blood:
5	chr11:45867854..45870393-chr11:45906869..45909551,2	MCF-7	breast:
6	chr11:45868680..45870553-chr11:45907106..45909020,2	K562	blood:
7	chr11:45906755..45908288-chr11:45937921..45939853,2	MCF-7	breast:
8	chr11:45907546..45909448-chr11:45934193..45936568,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000121680	Chromatin interaction
ENSG00000234776	Chromatin interaction
ENSG00000255498	Chromatin interaction
ENSG00000121671	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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45906400-45907800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:45906600-45907800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:45906600-45908000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:45906600-45908000	Active TSS	Fetal Brain Female	brain
5	chr11:45906600-45908200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:45906600-45908200	Active TSS	Brain Angular Gyrus	brain
7	chr11:45906600-45908400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:45906600-45908400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:45906800-45907800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr11:45906800-45907800	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr11:45906800-45907800	Active TSS	HepG2	liver
12	chr11:45906800-45908200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:45906800-45908200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr11:45907000-45907800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr11:45907000-45907800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:45907000-45907800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:45907000-45907800	Active TSS	Brain Germinal Matrix	brain
18	chr11:45907000-45907800	Bivalent Enhancer	Fetal Lung	lung
19	chr11:45907000-45907800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr11:45907000-45907800	Active TSS	NHEK	skin
21	chr11:45907000-45908000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr11:45907000-45908000	Active TSS	Brain Substantia Nigra	brain
23	chr11:45907000-45908000	Weak transcription	Fetal Brain Male	brain
24	chr11:45907000-45908400	Active TSS	Brain Anterior Caudate	brain
25	chr11:45907000-45908400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:45907000-45908600	Active TSS	Brain Hippocampus Middle	brain
27	chr11:45907000-45908600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr11:45907200-45907800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr11:45907200-45907800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:45907200-45907800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:45907200-45908000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr11:45907200-45908000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:45907400-45907800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:45907400-45907800	Enhancers	Primary B cells from cord blood	blood
35	chr11:45907400-45907800	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr11:45907400-45907800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr11:45907400-45907800	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr11:45907400-45907800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr11:45907400-45907800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr11:45907400-45907800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr11:45907400-45907800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:45907400-45907800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr11:45907400-45907800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:45907400-45907800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:45907400-45907800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:45907400-45907800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr11:45907400-45907800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr11:45907400-45907800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
49	chr11:45907400-45907800	Flanking Active TSS	Pancreas	Pancrea
50	chr11:45907400-45907800	Flanking Active TSS	Dnd41	blood

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