Variant report

Variant	rs541992424
Chromosome Location	chr19:45673990-45673991
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45660357..45662141-chr19:45673721..45675839,2	MCF-7	breast:
2	chr19:45673701..45675733-chr19:45689481..45691712,2	MCF-7	breast:
3	chr19:45615655..45617695-chr19:45672938..45674572,2	MCF-7	breast:
4	chr19:45663965..45672033-chr19:45672145..45675901,9	K562	blood:
5	chr19:45665456..45669944-chr19:45672662..45676859,4	MCF-7	breast:
6	chr19:45673214..45674833-chr19:45677772..45679460,2	K562	blood:
7	chr19:45662986..45665751-chr19:45672149..45675841,4	MCF-7	breast:
8	chr19:45672317..45675503-chr19:45675709..45677747,4	K562	blood:
9	chr19:45663229..45667496-chr19:45672423..45675746,6	K562	blood:
10	chr19:45672516..45674709-chr19:45674785..45678342,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179846	Chromatin interaction
ENSG00000266958	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833842	chr19:45593888-45684308	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS 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	33 gene(s)	inside rSNPs	diseases
3	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv912143	chr19:45624303-45767214	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv3403042	chr19:45626786-45874859	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv912144	chr19:45636319-45687446	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv1795888	chr19:45650386-45681988	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1798099	chr19:45664218-45681988	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
9	esv1791796	chr19:45673701-45681988	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
10	esv1794498	chr19:45673701-45691040	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45660200-45674000	Weak transcription	A549	lung
2	chr19:45665400-45680400	Weak transcription	Brain Substantia Nigra	brain
3	chr19:45665400-45680600	Weak transcription	Fetal Lung	lung
4	chr19:45665600-45680400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr19:45665800-45674600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:45665800-45680200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr19:45665800-45680400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:45667400-45681000	Weak transcription	Aorta	Aorta
9	chr19:45668000-45674600	Weak transcription	HSMMtube	muscle
10	chr19:45668000-45680600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:45668200-45674600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:45668200-45676000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:45668400-45675600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:45668400-45676800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:45668400-45680400	Weak transcription	Fetal Intestine Large	intestine
16	chr19:45668400-45680600	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:45668400-45680600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr19:45668600-45675600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr19:45668600-45679000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr19:45668800-45680400	Weak transcription	Brain Anterior Caudate	brain
21	chr19:45668800-45680400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:45669000-45674000	Weak transcription	GM12878-XiMat	blood
23	chr19:45669000-45674600	Weak transcription	Thymus	Thymus
24	chr19:45669000-45680200	Weak transcription	Fetal Brain Female	brain
25	chr19:45670000-45674000	Weak transcription	Primary B cells from cord blood	blood
26	chr19:45670200-45680200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:45670200-45680400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr19:45670400-45674000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr19:45670400-45675000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:45670400-45675600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:45670400-45675600	Weak transcription	Right Atrium	heart
32	chr19:45670400-45675800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:45670600-45674000	Weak transcription	NHEK	skin
34	chr19:45670600-45674600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:45670600-45674600	Weak transcription	Fetal Muscle Leg	muscle
36	chr19:45670600-45675000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr19:45670600-45680400	Weak transcription	Brain Angular Gyrus	brain
38	chr19:45670600-45680400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr19:45670800-45674600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr19:45670800-45675600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:45670800-45680400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr19:45671600-45674000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr19:45671600-45674600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr19:45671600-45677600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:45672000-45674200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:45672000-45674200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr19:45672000-45674200	Strong transcription	Fetal Intestine Small	intestine
48	chr19:45672000-45674600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:45672000-45674600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr19:45672000-45674600	Enhancers	Primary T helper cells fromperipheralblood	blood

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