Variant report

Variant	rs561243341
Chromosome Location	chr11:57297852-57297853
allele	A/G
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57296541..57298189-chr11:57320767..57323633,2	K562	blood:
2	chr11:57082825..57084947-chr11:57296049..57298062,2	K562	blood:
3	chr11:57296819..57301795-chr11:57434465..57437903,4	K562	blood:
4	chr11:57279697..57283964-chr11:57296063..57300992,5	K562	blood:
5	chr11:57279377..57284601-chr11:57296598..57300992,7	K562	blood:
6	chr11:57190585..57193869-chr11:57296385..57298665,4	K562	blood:
7	chr11:57280118..57282048-chr11:57295886..57298266,2	MCF-7	breast:
8	chr11:57190585..57194081-chr11:57295965..57298665,6	K562	blood:
9	chr11:57297015..57298977-chr11:58345779..58348496,3	K562	blood:
10	chr11:57259488..57262312-chr11:57297158..57299801,2	K562	blood:
11	chr11:57296138..57298827-chr11:57479075..57481840,2	K562	blood:
12	chr11:57225517..57229165-chr11:57295790..57298188,3	K562	blood:
13	chr11:57296719..57299374-chr11:57308110..57310728,2	K562	blood:
14	chr11:57225401..57228536-chr11:57297717..57300309,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255073	Chromatin interaction
ENSG00000186660	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000213593	Chromatin interaction
ENSG00000134802	Chromatin interaction
ENSG00000254979	Chromatin interaction
ENSG00000214872	Chromatin interaction
ENSG00000186907	Chromatin interaction
ENSG00000149150	Chromatin interaction
ENSG00000156603	Chromatin interaction
ENSG00000254462	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1051032	chr11:57290124-57363064	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv541049	chr11:57290124-57363064	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1052073	chr11:57297499-57362802	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv541050	chr11:57297499-57362802	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr11:57296600-57298000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr11:57296800-57298200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:57296800-57298200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr11:57297000-57298000	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr11:57297000-57298200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:57297000-57299200	Active TSS	H1 Cell Line	embryonic stem cell
7	chr11:57297200-57298000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:57297200-57298000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr11:57297200-57298000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:57297200-57298000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr11:57297200-57298000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:57297200-57298000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr11:57297200-57298000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr11:57297200-57298000	Flanking Active TSS	Right Ventricle	heart
15	chr11:57297200-57298000	Flanking Active TSS	Osteobl	bone
16	chr11:57297200-57298200	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr11:57297200-57299000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr11:57297200-57299200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr11:57297200-57299200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr11:57297200-57299200	Flanking Active TSS	HUVEC	blood vessel
21	chr11:57297400-57298000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:57297400-57298000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:57297400-57298000	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr11:57297400-57298000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr11:57297400-57298000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr11:57297400-57298000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:57297400-57298000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr11:57297400-57298000	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr11:57297400-57298000	Flanking Active TSS	Liver	Liver
30	chr11:57297400-57298000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr11:57297400-57298000	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr11:57297400-57298000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr11:57297400-57298000	Flanking Active TSS	Fetal Brain Male	brain
34	chr11:57297400-57298000	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr11:57297400-57298000	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr11:57297400-57298000	Flanking Active TSS	Placenta	Placenta
37	chr11:57297400-57298000	Flanking Active TSS	Fetal Stomach	stomach
38	chr11:57297400-57298000	Flanking Active TSS	Fetal Thymus	thymus
39	chr11:57297400-57298000	Flanking Active TSS	Left Ventricle	heart
40	chr11:57297400-57298000	Flanking Active TSS	Right Atrium	heart
41	chr11:57297400-57298000	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr11:57297400-57298200	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr11:57297400-57298200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr11:57297400-57298200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr11:57297400-57298600	Active TSS	HSMMtube	muscle
46	chr11:57297400-57299000	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr11:57297400-57299000	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr11:57297400-57299000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:57297400-57299200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr11:57297400-57299400	Flanking Active TSS	Primary hematopoietic stem cells	blood

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