Variant report

Variant	rs17104316
Chromosome Location	chr5:145594238-145594239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:145588075..145590940-chr5:145591754..145595862,4	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6877534	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	nsv883012	chr5:145589542-145672431	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145584400-145598800	Weak transcription	NH-A	brain
2	chr5:145584400-145606600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:145584600-145595600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:145584600-145606400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:145584800-145597200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:145584800-145599000	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:145584800-145608000	Weak transcription	Esophagus	oesophagus
8	chr5:145584800-145631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:145585000-145598800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:145585000-145599000	Weak transcription	Fetal Brain Female	brain
11	chr5:145585000-145602600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:145585200-145598600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:145585200-145598600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:145585200-145598800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:145585200-145598800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:145585200-145598800	Weak transcription	HMEC	breast
17	chr5:145585200-145598800	Weak transcription	NHEK	skin
18	chr5:145585200-145609200	Weak transcription	Brain Anterior Caudate	brain
19	chr5:145585400-145597400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:145585400-145598200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:145585400-145598200	Weak transcription	HUVEC	blood vessel
22	chr5:145585400-145598400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:145585400-145609000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:145585600-145597400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:145585600-145599000	Weak transcription	Thymus	Thymus
26	chr5:145585600-145599200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:145585600-145601000	Weak transcription	Right Atrium	heart
28	chr5:145585600-145610200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:145585800-145598400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:145585800-145598800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:145585800-145601800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:145586000-145599000	Weak transcription	HSMM	muscle
33	chr5:145586200-145597000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:145586400-145594600	Weak transcription	Lung	lung
35	chr5:145586400-145595600	Weak transcription	Pancreas	Pancrea
36	chr5:145586400-145598800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:145586400-145604000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:145586400-145616800	Weak transcription	Right Ventricle	heart
39	chr5:145586800-145598600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr5:145587000-145597400	Weak transcription	Psoas Muscle	Psoas
41	chr5:145588200-145597600	Weak transcription	Dnd41	blood
42	chr5:145588200-145598200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr5:145588200-145599000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:145588200-145608000	Weak transcription	Gastric	stomach
45	chr5:145588200-145609200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:145589000-145633200	Weak transcription	Brain Angular Gyrus	brain
47	chr5:145589200-145599000	Weak transcription	Aorta	Aorta
48	chr5:145589200-145615400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr5:145589400-145599000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr5:145589400-145610200	Weak transcription	Fetal Kidney	kidney

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