Variant report

Variant	rs16898486
Chromosome Location	chr5:68393737-68393738
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:68393632-68394047	K562	blood:	n/a	n/a
2	POLR2A	chr5:68392098-68394013	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr5:68393338-68393763	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:68393636-68393836	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68392345..68395131-chr5:68404844..68408147,4	K562	blood:
2	chr5:68389176..68392363-chr5:68393706..68396826,5	MCF-7	breast:
3	chr5:68392072..68393994-chr5:68636820..68639072,2	K562	blood:
4	chr5:68393389..68395776-chr5:68467195..68469361,2	K562	blood:
5	chr5:68392032..68393826-chr5:68411888..68414072,2	K562	blood:

No data

Variant related genes	Relation type
SLC30A5	TF binding region
ENSG00000145740	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10454824	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10940199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743118	0.86[ASN][1000 genomes]
rs12519270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522805	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13185437	0.94[ASN][1000 genomes]
rs16898499	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4976217	0.99[ASN][1000 genomes]
rs58151499	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58575768	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59734653	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67722222	0.96[ASN][1000 genomes]
rs7718228	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7719198	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7719482	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7733034	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3391099	chr5:68377245-68400350	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68390600-68405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68390800-68395800	Weak transcription	Aorta	Aorta
3	chr5:68390800-68395800	Weak transcription	Esophagus	oesophagus
4	chr5:68390800-68405200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:68391000-68398800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:68391000-68399000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:68391000-68399000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:68391000-68399000	Weak transcription	NHDF-Ad	bronchial
9	chr5:68391000-68399200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:68391000-68399200	Weak transcription	Fetal Kidney	kidney
11	chr5:68391000-68400600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:68391000-68401000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:68391000-68401000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:68391000-68402800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:68391000-68403000	Weak transcription	HSMMtube	muscle
16	chr5:68391000-68415200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:68391200-68394400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:68391200-68398800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:68391200-68399000	Weak transcription	Brain Angular Gyrus	brain
20	chr5:68391200-68399200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:68391200-68401200	Weak transcription	Right Ventricle	heart
22	chr5:68391200-68402600	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:68391200-68405600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:68391200-68405600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:68391200-68405600	Weak transcription	Psoas Muscle	Psoas
26	chr5:68391400-68393800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:68391400-68394200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:68391400-68394200	Weak transcription	NH-A	brain
29	chr5:68391400-68394800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:68391400-68395200	Weak transcription	Left Ventricle	heart
31	chr5:68391400-68395200	Weak transcription	Ovary	ovary
32	chr5:68391400-68395200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:68391400-68395600	Weak transcription	Adipose Nuclei	Adipose
34	chr5:68391400-68395800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:68391400-68398000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:68391400-68398600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:68391400-68398800	Strong transcription	Fetal Stomach	stomach
38	chr5:68391400-68398800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:68391400-68399000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:68391400-68399000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr5:68391400-68399000	Weak transcription	HSMM	muscle
42	chr5:68391400-68399000	Weak transcription	NHEK	skin
43	chr5:68391400-68399200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr5:68391400-68399200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:68391400-68399200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr5:68391400-68401000	Weak transcription	Fetal Brain Female	brain
47	chr5:68391400-68401200	Weak transcription	Gastric	stomach
48	chr5:68391400-68401400	Weak transcription	Spleen	Spleen
49	chr5:68391400-68401600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr5:68391400-68402000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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