Variant report

Variant	rs17781289
Chromosome Location	chr5:100205232-100205233
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:100185049..100186572-chr5:100203606..100206571,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10478648	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17160818	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17719528	0.83[AMR][1000 genomes]
rs17720901	1.00[AMR][1000 genomes]
rs17721341	1.00[AMR][1000 genomes]
rs17721790	1.00[AMR][1000 genomes]
rs17722713	1.00[AMR][1000 genomes]
rs17722756	0.85[AMR][1000 genomes]
rs17723146	1.00[AMR][1000 genomes]
rs17725086	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17725882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17726376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17775827	0.83[AMR][1000 genomes]
rs17775983	0.83[AMR][1000 genomes]
rs17776515	0.83[AMR][1000 genomes]
rs17777079	0.92[AMR][1000 genomes]
rs17777349	1.00[AMR][1000 genomes]
rs17778120	1.00[AMR][1000 genomes]
rs17778217	1.00[AMR][1000 genomes]
rs17778313	1.00[AMR][1000 genomes]
rs17778440	1.00[AMR][1000 genomes]
rs17778487	1.00[AMR][1000 genomes]
rs17778598	1.00[AMR][1000 genomes]
rs17778786	1.00[AMR][1000 genomes]
rs17779305	1.00[AMR][1000 genomes]
rs17779694	1.00[AMR][1000 genomes]
rs17779731	1.00[AMR][1000 genomes]
rs17780072	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17780121	1.00[AMR][1000 genomes]
rs17780854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17780992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17782650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57652761	0.83[AMR][1000 genomes]
rs6866516	1.00[AMR][1000 genomes]
rs73777435	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73777437	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv1834675	chr5:100143084-100535029	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv969269	chr5:100203441-100208973	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100147600-100218000	Weak transcription	Thymus	Thymus
2	chr5:100177600-100215400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:100178200-100218400	Weak transcription	Placenta	Placenta
4	chr5:100191200-100224400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:100191200-100225200	Weak transcription	Fetal Lung	lung
6	chr5:100191400-100208200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:100191400-100212200	Weak transcription	HUVEC	blood vessel
8	chr5:100192000-100205800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:100192000-100208200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:100194600-100218200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:100194800-100208200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr5:100194800-100208600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:100195000-100220400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:100198000-100208400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:100199000-100205400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:100199000-100206000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr5:100199000-100206000	Weak transcription	Primary T cells from cord blood	blood
18	chr5:100199000-100210200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr5:100199000-100213000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:100199200-100208600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:100200200-100220200	Strong transcription	Dnd41	blood
22	chr5:100200200-100234400	Weak transcription	Fetal Brain Male	brain
23	chr5:100201800-100215400	Weak transcription	Small Intestine	intestine
24	chr5:100202400-100209400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:100202800-100214400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:100203200-100208600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:100203800-100209200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:100203800-100211600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr5:100204200-100212200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr5:100204400-100218400	Weak transcription	Fetal Brain Female	brain
31	chr5:100204600-100206600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:100204800-100210600	ZNF genes & repeats	GM12878-XiMat	blood
33	chr5:100205000-100209600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:100205200-100206000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr5:100205200-100206800	Strong transcription	Primary B cells from cord blood	blood
36	chr5:100205200-100206800	Strong transcription	Fetal Thymus	thymus
37	chr5:100205200-100207200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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