Variant report

Variant	rs60403917
Chromosome Location	chr17:17047618-17047619
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17046258..17049165-chr17:17140105..17142277,2	K562	blood:
2	chr17:17041998..17043566-chr17:17047044..17048728,2	MCF-7	breast:
3	chr17:17047306..17049744-chr17:17082516..17085207,2	K562	blood:
4	chr17:17041398..17043468-chr17:17045137..17047861,3	K562	blood:

Variant related genes	Relation type
ENSG00000133030	Chromatin interaction
ENSG00000264187	Chromatin interaction
ENSG00000154803	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4488507	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57376511	1.00[EUR][1000 genomes]
rs59061797	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs61599458	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7219115	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73277607	1.00[AMR][1000 genomes]
rs73277608	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73277625	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73277633	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73277634	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73277644	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73279617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73279625	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv907728	chr17:17013189-17095487	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv984510	chr17:17015688-17048858	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv524958	chr17:17029718-17060805	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr17:17029800-17088400	Strong transcription	Dnd41	blood
2	chr17:17030000-17048200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr17:17030000-17052200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr17:17030000-17088000	Strong transcription	Duodenum Mucosa	Duodenum
5	chr17:17030200-17051600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:17030200-17055000	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr17:17030400-17047800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:17030400-17055800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr17:17030400-17059800	Strong transcription	Fetal Intestine Small	intestine
10	chr17:17030400-17079200	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr17:17030400-17089200	Strong transcription	Fetal Intestine Large	intestine
12	chr17:17030600-17051000	Strong transcription	Colonic Mucosa	Colon
13	chr17:17031000-17078800	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr17:17031200-17057200	Strong transcription	Primary T cells from cord blood	blood
15	chr17:17031200-17067800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr17:17031400-17051800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr17:17032000-17055000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr17:17032000-17073800	Strong transcription	Fetal Lung	lung
19	chr17:17032200-17048200	Weak transcription	Right Atrium	heart
20	chr17:17032200-17051800	Strong transcription	Pancreas	Pancrea
21	chr17:17032200-17073600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr17:17032400-17051600	Strong transcription	Gastric	stomach
23	chr17:17033400-17051000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr17:17034200-17049400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:17034800-17072800	Strong transcription	Placenta Amnion	Placenta Amnion
26	chr17:17036600-17050200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr17:17037200-17074200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:17038200-17051600	Strong transcription	Rectal Smooth Muscle	rectum
29	chr17:17038400-17093800	Strong transcription	Fetal Brain Female	brain
30	chr17:17038800-17048400	Weak transcription	Fetal Heart	heart
31	chr17:17038800-17058400	Weak transcription	Fetal Brain Male	brain
32	chr17:17039000-17048200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr17:17039400-17051800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr17:17041400-17054200	Strong transcription	Hela-S3	cervix
35	chr17:17043000-17055200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr17:17043600-17050200	Weak transcription	Fetal Kidney	kidney
37	chr17:17043600-17051800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr17:17043800-17047800	Strong transcription	GM12878-XiMat	blood
39	chr17:17044000-17048400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr17:17044000-17050200	Strong transcription	Stomach Mucosa	stomach
41	chr17:17044000-17052800	Strong transcription	HSMMtube	muscle
42	chr17:17044200-17050200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:17044200-17053400	Strong transcription	NHLF	lung
44	chr17:17044200-17083600	Strong transcription	Thymus	Thymus
45	chr17:17044400-17047800	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr17:17044400-17049000	Strong transcription	Fetal Muscle Leg	muscle
47	chr17:17044400-17050200	Strong transcription	HSMM	muscle
48	chr17:17044400-17050600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:17044600-17049400	Strong transcription	Osteobl	bone
50	chr17:17044600-17052200	Weak transcription	HepG2	liver

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