Variant report

Variant	rs16946878
Chromosome Location	chr17:45821510-45821511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45770256..45772710-chr17:45820237..45822227,2	MCF-7	breast:
2	chr17:45819448..45824573-chr17:45826000..45830135,4	K562	blood:
3	chr17:45769360..45771428-chr17:45820876..45822784,2	K562	blood:
4	chr17:45811192..45813329-chr17:45818442..45821780,3	K562	blood:
5	chr17:45762090..45764390-chr17:45820597..45823079,2	K562	blood:

Variant related genes	Relation type
ENSG00000198933	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12325797	1.00[ASW][hapmap]
rs12450008	0.92[EUR][1000 genomes]
rs12451682	0.92[EUR][1000 genomes]
rs12452307	0.92[EUR][1000 genomes]
rs13380818	1.00[ASW][hapmap];0.90[YRI][hapmap]
rs16943870	1.00[ASW][hapmap]
rs17244544	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17250953	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17772855	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17773055	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41407050	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72648867	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72648868	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72648869	0.86[AMR][1000 genomes];0.96[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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908571	chr17:45765249-45821510	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	nsv2071	chr17:45801503-45844229	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45811400-45822000	Weak transcription	Right Atrium	heart
2	chr17:45819200-45824000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:45819600-45823000	Genic enhancers	Primary T cells fromperipheralblood	blood
4	chr17:45820400-45821600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr17:45820400-45821600	Weak transcription	K562	blood
6	chr17:45820400-45821800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr17:45820400-45822000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr17:45820400-45824000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:45820600-45821600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:45820600-45821600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:45820600-45821800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr17:45820600-45821800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr17:45820600-45821800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:45820600-45822000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr17:45820600-45822000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr17:45820600-45822400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:45820600-45822800	Weak transcription	GM12878-XiMat	blood
18	chr17:45820600-45823600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr17:45820600-45823800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr17:45820600-45826200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr17:45820600-45830400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr17:45821000-45821600	Weak transcription	Spleen	Spleen
23	chr17:45821200-45823800	Enhancers	Dnd41	blood
24	chr17:45821400-45821600	Bivalent Enhancer	Stomach Smooth Muscle	stomach

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