Variant report

Variant	rs572976913
Chromosome Location	chr5:145588674-145588675
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:145582693..145585612-chr5:145586430..145590293,7	MCF-7	breast:
2	chr5:145581226..145585152-chr5:145585587..145593073,9	K562	blood:
3	chr5:145564650..145566770-chr5:145588134..145589874,2	K562	blood:
4	chr5:145559745..145561849-chr5:145588233..145589890,2	K562	blood:
5	chr5:145588075..145590940-chr5:145591754..145595862,4	K562	blood:
6	chr5:145587938..145589813-chr5:145591754..145593477,2	K562	blood:
7	chr5:145587290..145589374-chr5:145604476..145606867,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000091009	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	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883008	chr5:145509728-145642925	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv883009	chr5:145567877-145672431	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv462475	chr5:145583623-145642007	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv599935	chr5:145583623-145642007	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv883010	chr5:145583623-145651979	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv883011	chr5:145583623-145672431	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv523502	chr5:145588483-145639987	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145583800-145589000	Weak transcription	Small Intestine	intestine
2	chr5:145584200-145588800	Weak transcription	Fetal Intestine Small	intestine
3	chr5:145584400-145598800	Weak transcription	NH-A	brain
4	chr5:145584400-145606600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:145584600-145588800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:145584600-145595600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:145584600-145606400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:145584800-145597200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:145584800-145599000	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:145584800-145608000	Weak transcription	Esophagus	oesophagus
11	chr5:145584800-145631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:145585000-145588800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:145585000-145588800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:145585000-145589200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:145585000-145590200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr5:145585000-145590600	Weak transcription	Left Ventricle	heart
17	chr5:145585000-145593000	Weak transcription	Brain Substantia Nigra	brain
18	chr5:145585000-145593600	Weak transcription	Fetal Lung	lung
19	chr5:145585000-145598800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:145585000-145599000	Weak transcription	Fetal Brain Female	brain
21	chr5:145585000-145602600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:145585200-145589000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:145585200-145589000	Weak transcription	Fetal Kidney	kidney
24	chr5:145585200-145592800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:145585200-145593000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr5:145585200-145593000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr5:145585200-145593000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr5:145585200-145598600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:145585200-145598600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:145585200-145598800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:145585200-145598800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr5:145585200-145598800	Weak transcription	HMEC	breast
33	chr5:145585200-145598800	Weak transcription	NHEK	skin
34	chr5:145585200-145609200	Weak transcription	Brain Anterior Caudate	brain
35	chr5:145585400-145597400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr5:145585400-145598200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:145585400-145598200	Weak transcription	HUVEC	blood vessel
38	chr5:145585400-145598400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:145585400-145609000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:145585600-145597400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:145585600-145599000	Weak transcription	Thymus	Thymus
42	chr5:145585600-145599200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:145585600-145601000	Weak transcription	Right Atrium	heart
44	chr5:145585600-145610200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:145585800-145588800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:145585800-145589000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:145585800-145598400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:145585800-145598800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:145585800-145601800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:145586000-145599000	Weak transcription	HSMM	muscle

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