Variant report

Variant	rs16956835
Chromosome Location	chr17:46519520-46519521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46519089..46520799-chr17:46536940..46538843,2	K562	blood:
2	chr17:46518879..46521874-chr17:46522695..46525277,2	K562	blood:
3	chr17:46519351..46522263-chr17:46657755..46660569,3	K562	blood:
4	chr17:46519351..46522056-chr17:46657755..46660727,3	K562	blood:
5	chr17:46511985..46515396-chr17:46515822..46520337,5	K562	blood:
6	chr17:46517956..46520413-chr17:46654283..46656139,2	K562	blood:

Variant related genes	Relation type
ENSG00000264451	Chromatin interaction
ENSG00000120093	Chromatin interaction
ENSG00000257178	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12326027	1.00[ASN][1000 genomes]
rs16954937	1.00[ASN][1000 genomes]
rs16955293	1.00[ASN][1000 genomes]
rs16955495	1.00[ASN][1000 genomes]
rs28566062	1.00[ASN][1000 genomes]
rs6504258	1.00[ASN][1000 genomes]
rs7210852	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7214998	1.00[ASN][1000 genomes]
rs8073595	1.00[ASN][1000 genomes]
rs8074754	1.00[ASN][1000 genomes]
rs8074951	1.00[ASN][1000 genomes]
rs9303545	1.00[ASN][1000 genomes]
rs9891014	1.00[ASN][1000 genomes]
rs9895188	1.00[ASN][1000 genomes]
rs9908054	1.00[ASN][1000 genomes]
rs9911434	1.00[ASN][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	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv2761960	chr17:46504489-46529846	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46510600-46524000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr17:46512600-46524200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr17:46513600-46523800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:46513800-46520800	Enhancers	Fetal Thymus	thymus
5	chr17:46514800-46522000	Enhancers	Primary B cells from peripheral blood	blood
6	chr17:46515400-46520600	Enhancers	Primary hematopoietic stem cells	blood
7	chr17:46515400-46522800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr17:46515600-46520600	Enhancers	Thymus	Thymus
9	chr17:46515800-46522600	Enhancers	K562	blood
10	chr17:46515800-46524000	Enhancers	Primary B cells from cord blood	blood
11	chr17:46516000-46519600	Enhancers	Duodenum Mucosa	Duodenum
12	chr17:46516600-46520600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr17:46517200-46520600	Enhancers	Dnd41	blood
14	chr17:46517400-46520400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr17:46517800-46521800	Weak transcription	Gastric	stomach
16	chr17:46518600-46520800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:46518600-46522000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr17:46518800-46519600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr17:46518800-46520200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr17:46518800-46526200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr17:46519000-46519600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr17:46519000-46519600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr17:46519000-46519800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr17:46519000-46519800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr17:46519000-46520000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr17:46519000-46520200	Flanking Active TSS	GM12878-XiMat	blood
27	chr17:46519000-46520400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr17:46519000-46520600	Weak transcription	Adipose Nuclei	Adipose
29	chr17:46519000-46521800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr17:46519200-46520600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:46519200-46522000	Weak transcription	Spleen	Spleen
32	chr17:46519400-46522000	Enhancers	Primary T cells from cord blood	blood
33	chr17:46519400-46525200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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