Variant report

Variant	rs17472276
Chromosome Location	chr17:38634605-38634606
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	chr17:38618819..38620675-chr17:38632063..38634752,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10153265	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11078946	0.91[EUR][1000 genomes]
rs11078947	0.91[EUR][1000 genomes]
rs11871535	0.85[EUR][1000 genomes]
rs56291600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819635	0.91[EUR][1000 genomes]
rs72819636	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72819638	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72819640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72819643	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72819648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819651	0.87[EUR][1000 genomes]
rs72819653	1.00[AFR][1000 genomes]
rs72819659	1.00[AFR][1000 genomes]
rs72819661	1.00[AFR][1000 genomes]
rs72819664	1.00[AFR][1000 genomes]
rs72819665	1.00[AFR][1000 genomes]
rs8078319	1.00[CEU][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38627400-38646200	Weak transcription	Gastric	stomach
2	chr17:38628800-38636400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:38630200-38635800	Weak transcription	Esophagus	oesophagus
4	chr17:38630200-38636200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr17:38631000-38636800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:38631200-38636600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr17:38631800-38639600	Enhancers	Primary B cells from peripheral blood	blood
8	chr17:38632000-38637000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr17:38632000-38637000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:38632000-38639200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:38632400-38635000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr17:38632400-38635800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr17:38632400-38635800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr17:38632400-38635800	Weak transcription	HepG2	liver
15	chr17:38632400-38636200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr17:38632400-38636200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr17:38632400-38636200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr17:38632400-38636400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr17:38632400-38636400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr17:38632400-38636400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr17:38632400-38636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr17:38632400-38636800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr17:38632400-38636800	Weak transcription	Colonic Mucosa	Colon
24	chr17:38632400-38637000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr17:38632400-38639200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:38632400-38641000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:38632600-38635800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr17:38632800-38634800	Weak transcription	Spleen	Spleen
29	chr17:38632800-38635800	Weak transcription	Thymus	Thymus
30	chr17:38632800-38636000	Weak transcription	Right Atrium	heart
31	chr17:38632800-38636200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:38632800-38636200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr17:38632800-38636200	Weak transcription	HSMM	muscle
34	chr17:38632800-38636400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr17:38632800-38636400	Weak transcription	Adipose Nuclei	Adipose
36	chr17:38632800-38636400	Weak transcription	Fetal Lung	lung
37	chr17:38632800-38636400	Weak transcription	Stomach Mucosa	stomach
38	chr17:38632800-38636400	Weak transcription	NHDF-Ad	bronchial
39	chr17:38632800-38636400	Strong transcription	NHEK	skin
40	chr17:38632800-38637200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:38632800-38641000	Weak transcription	Osteobl	bone
42	chr17:38633000-38635200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr17:38633000-38635600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr17:38633000-38635800	Weak transcription	Dnd41	blood
45	chr17:38633000-38636000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:38633000-38636000	Weak transcription	Fetal Muscle Leg	muscle
47	chr17:38633000-38636000	Strong transcription	HMEC	breast
48	chr17:38633000-38636400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr17:38633000-38636400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr17:38633000-38637000	Weak transcription	K562	blood

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