Variant report

Variant	rs59007160
Chromosome Location	chr5:112932943-112932944
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112923262..112928429-chr5:112929075..112932971,5	K562	blood:
2	chr5:112926184..112928429-chr5:112930573..112932971,3	K562	blood:

Variant related genes	Relation type
ENSG00000047188	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11949387	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11953034	0.81[AFR][1000 genomes]
rs11953559	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13161610	0.81[AFR][1000 genomes]
rs13161969	0.81[AFR][1000 genomes]
rs2914152	0.81[AFR][1000 genomes]
rs34158516	0.81[AFR][1000 genomes]
rs34161832	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34554590	0.80[AFR][1000 genomes]
rs34870059	0.81[AFR][1000 genomes]
rs35274088	0.81[AFR][1000 genomes]
rs3763141	0.81[AFR][1000 genomes]
rs58479323	0.81[AFR][1000 genomes]
rs58548907	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59149164	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59757131	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs66838021	0.81[AFR][1000 genomes]
rs67382821	0.81[AFR][1000 genomes]
rs6876863	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7703186	0.81[AFR][1000 genomes]
rs7729214	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv882724	chr5:112868878-112933202	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv520674	chr5:112911165-112942820	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	esv2752057	chr5:112916398-112945992	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1029507	chr5:112916398-112945992	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	esv2763910	chr5:112916398-112951827	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
8	nsv1031336	chr5:112916398-112956588	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:112904600-112934800	Weak transcription	Psoas Muscle	Psoas
3	chr5:112908800-112935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:112910600-112933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:112910600-112935200	Weak transcription	Spleen	Spleen
6	chr5:112910600-112935400	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:112910600-112936600	Weak transcription	Colonic Mucosa	Colon
8	chr5:112910600-112942000	Weak transcription	Brain Substantia Nigra	brain
9	chr5:112910800-112933600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:112910800-112933600	Weak transcription	Fetal Stomach	stomach
11	chr5:112910800-112934600	Weak transcription	Gastric	stomach
12	chr5:112910800-112935000	Weak transcription	Pancreas	Pancrea
13	chr5:112910800-112935200	Weak transcription	Esophagus	oesophagus
14	chr5:112910800-112937400	Weak transcription	Fetal Intestine Small	intestine
15	chr5:112910800-112938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:112910800-112942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:112916400-112933000	Weak transcription	Thymus	Thymus
18	chr5:112916400-112933400	Weak transcription	Aorta	Aorta
19	chr5:112916800-112936000	Weak transcription	Fetal Heart	heart
20	chr5:112917200-112942000	Weak transcription	K562	blood
21	chr5:112917400-112937600	Weak transcription	HSMMtube	muscle
22	chr5:112917800-112933400	Weak transcription	Brain Angular Gyrus	brain
23	chr5:112918000-112933600	Weak transcription	Hela-S3	cervix
24	chr5:112918000-112939000	Weak transcription	NHEK	skin
25	chr5:112920400-112939000	Weak transcription	HMEC	breast
26	chr5:112920600-112934600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr5:112920600-112934800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:112920600-112936000	Weak transcription	Brain Anterior Caudate	brain
29	chr5:112920800-112934000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:112920800-112938600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:112920800-112942000	Weak transcription	Ovary	ovary
32	chr5:112922000-112933400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr5:112923600-112933600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr5:112924800-112933000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:112926400-112933400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr5:112926800-112933800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:112927000-112936600	Weak transcription	Fetal Muscle Leg	muscle
38	chr5:112927200-112941800	Weak transcription	HUVEC	blood vessel
39	chr5:112927800-112934800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr5:112927800-112939200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr5:112928200-112933600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:112928200-112934200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr5:112928200-112936600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:112928800-112937800	Weak transcription	Osteobl	bone
45	chr5:112929000-112933400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr5:112929000-112933400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:112929000-112934400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:112929200-112935000	Weak transcription	Fetal Intestine Large	intestine
49	chr5:112929200-112935400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:112929200-112941400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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