Variant report

Variant	rs16898593
Chromosome Location	chr5:68430519-68430520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11950560	0.81[AMR][1000 genomes]
rs11956457	0.81[AMR][1000 genomes]
rs11956460	0.81[AMR][1000 genomes]
rs11957226	0.81[AMR][1000 genomes]
rs61414473	0.81[AMR][1000 genomes]
rs61641671	0.81[AMR][1000 genomes]
rs6876347	0.81[AMR][1000 genomes]
rs6876502	0.81[AMR][1000 genomes]
rs73772307	0.81[AMR][1000 genomes]
rs7736273	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv881766	chr5:68401941-68448694	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68391400-68431200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:68400200-68431200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:68406200-68438400	Weak transcription	Aorta	Aorta
4	chr5:68406400-68431600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:68410400-68431800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:68412400-68434600	Weak transcription	Psoas Muscle	Psoas
7	chr5:68415600-68431400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:68416400-68445000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:68418600-68431200	Weak transcription	Gastric	stomach
10	chr5:68419200-68431600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:68419400-68430600	Weak transcription	HUVEC	blood vessel
12	chr5:68420600-68434800	Weak transcription	Fetal Brain Male	brain
13	chr5:68421000-68431200	Weak transcription	Brain Angular Gyrus	brain
14	chr5:68421200-68431600	Weak transcription	Spleen	Spleen
15	chr5:68421400-68433400	Weak transcription	Left Ventricle	heart
16	chr5:68421600-68447000	Weak transcription	Ovary	ovary
17	chr5:68421800-68431400	Weak transcription	Lung	lung
18	chr5:68423600-68432600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:68423800-68432200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:68424000-68431000	Weak transcription	HMEC	breast
21	chr5:68424000-68431600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:68424000-68432200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:68424000-68434000	Weak transcription	Brain Germinal Matrix	brain
24	chr5:68424400-68433200	Weak transcription	Right Ventricle	heart
25	chr5:68424600-68431400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:68424800-68431400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:68425000-68431600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:68425000-68433200	Weak transcription	Thymus	Thymus
29	chr5:68425400-68431400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:68425400-68434400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr5:68425600-68431200	Weak transcription	Fetal Lung	lung
32	chr5:68425600-68431200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:68425600-68431400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:68425600-68431600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:68425600-68432000	Weak transcription	Brain Substantia Nigra	brain
36	chr5:68425600-68432000	Weak transcription	K562	blood
37	chr5:68425600-68432000	Weak transcription	NHEK	skin
38	chr5:68425600-68432200	Weak transcription	Fetal Thymus	thymus
39	chr5:68425600-68433200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr5:68425800-68430800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr5:68425800-68431200	Weak transcription	GM12878-XiMat	blood
42	chr5:68425800-68431800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr5:68425800-68432000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:68425800-68432000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:68425800-68432200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr5:68425800-68432200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr5:68426000-68431200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:68426400-68431200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:68426400-68431800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:68426400-68433400	Weak transcription	NH-A	brain

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