Variant report

Variant	rs1808333
Chromosome Location	chr17:66443929-66443930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:66418285..66420364-chr17:66441433..66444134,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1030098	0.85[ASN][1000 genomes]
rs11656906	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11867297	0.85[ASN][1000 genomes]
rs2287301	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2302782	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2361954	0.80[ASN][1000 genomes]
rs2909212	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2909214	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2952291	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71378929	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs869657	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs883620	0.85[EUR][1000 genomes]
rs918167	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66410400-66452400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:66420800-66446400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:66420800-66451800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr17:66425400-66451600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:66425400-66452000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr17:66426000-66445400	Weak transcription	Brain Germinal Matrix	brain
7	chr17:66429800-66444200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr17:66430800-66444200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr17:66432200-66452400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:66432400-66446400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr17:66432600-66444200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:66432600-66451600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:66432800-66448200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:66433000-66444400	Weak transcription	HMEC	breast
15	chr17:66433000-66451800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr17:66433000-66451800	Weak transcription	Hela-S3	cervix
17	chr17:66434400-66447800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr17:66434400-66450200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr17:66434600-66449000	Weak transcription	Thymus	Thymus
20	chr17:66434600-66450400	Strong transcription	Osteobl	bone
21	chr17:66434800-66445400	Weak transcription	Esophagus	oesophagus
22	chr17:66434800-66452200	Weak transcription	Dnd41	blood
23	chr17:66434800-66452400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr17:66434800-66452600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr17:66435200-66452200	Weak transcription	Stomach Mucosa	stomach
26	chr17:66435600-66449400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:66435800-66447600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr17:66436000-66449000	Strong transcription	NHLF	lung
29	chr17:66436400-66445400	Weak transcription	Brain Angular Gyrus	brain
30	chr17:66437200-66447000	Strong transcription	HepG2	liver
31	chr17:66437200-66451600	Weak transcription	GM12878-XiMat	blood
32	chr17:66437400-66451600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr17:66437400-66451600	Weak transcription	Small Intestine	intestine
34	chr17:66437600-66446400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:66437600-66452800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr17:66437800-66448000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr17:66437800-66448200	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr17:66437800-66449200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr17:66438000-66444200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr17:66438000-66444200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr17:66438000-66444400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr17:66438000-66445400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr17:66438000-66446600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:66438000-66449200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:66438000-66452000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr17:66438200-66449000	Weak transcription	Primary T cells from cord blood	blood
47	chr17:66438200-66449800	Weak transcription	Fetal Lung	lung
48	chr17:66438200-66452000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr17:66438200-66452000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr17:66438200-66452400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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