Variant report

Variant	rs4072354
Chromosome Location	chr16:30394940-30394941
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:30394940-30395090	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30389715..30395001-chr16:30417296..30421020,7	K562	blood:
2	chr16:30386182..30395144-chr16:30402818..30414477,44	MCF-7	breast:
3	chr16:30387676..30396507-chr16:30404234..30411930,28	K562	blood:
4	chr16:30393486..30397071-chr16:30402673..30407150,6	MCF-7	breast:
5	chr16:30366195..30367809-chr16:30394901..30397391,2	MCF-7	breast:

No data

Variant related genes	Relation type
SEPT1	TF binding region
ENSG00000270466	TF binding region
ENSG00000260219	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000169217	Chromatin interaction
ENSG00000180035	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13330462	0.82[ASW][hapmap];1.00[ASN][1000 genomes]
rs13335932	0.82[ASW][hapmap];1.00[ASN][1000 genomes]
rs28404428	1.00[ASN][1000 genomes]
rs4232893	0.85[YRI][hapmap]
rs4341758	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4787644	1.00[YRI][hapmap]
rs73532587	1.00[ASN][1000 genomes]
rs9926426	0.82[ASW][hapmap];1.00[ASN][1000 genomes]
rs9926923	1.00[ASN][1000 genomes]
rs9928218	0.82[ASW][hapmap];1.00[ASN][1000 genomes]
rs9936065	0.94[ASW][hapmap];0.81[LWK][hapmap];0.81[MKK][hapmap];0.96[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv905724	chr16:30368591-30438930	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv827612	chr16:30371538-30429862	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv905725	chr16:30376959-30420851	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	nsv962197	chr16:30390489-30425618	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv1782	chr16:30391812-30410266	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30390800-30395200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr16:30390800-30405600	Weak transcription	Right Atrium	heart
3	chr16:30391000-30395000	Weak transcription	Fetal Lung	lung
4	chr16:30391000-30405000	Weak transcription	NHLF	lung
5	chr16:30391000-30405200	Weak transcription	Fetal Brain Female	brain
6	chr16:30391000-30405400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr16:30391400-30396800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr16:30392000-30395800	Enhancers	Fetal Muscle Trunk	muscle
9	chr16:30392200-30395000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr16:30392200-30395600	Enhancers	Fetal Muscle Leg	muscle
11	chr16:30392400-30397800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:30392600-30395200	Flanking Active TSS	Dnd41	blood
13	chr16:30394000-30395000	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr16:30394200-30395200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:30394200-30395400	Enhancers	Stomach Smooth Muscle	stomach
16	chr16:30394200-30395800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr16:30394400-30395000	Enhancers	Primary B cells from cord blood	blood
18	chr16:30394400-30395000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr16:30394400-30395200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr16:30394400-30395200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr16:30394400-30395200	Weak transcription	Colonic Mucosa	Colon
22	chr16:30394400-30395400	Enhancers	Primary B cells from peripheral blood	blood
23	chr16:30394400-30395400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr16:30394400-30395400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr16:30394400-30395400	Enhancers	Thymus	Thymus
26	chr16:30394400-30395600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr16:30394400-30395600	Enhancers	Fetal Thymus	thymus
28	chr16:30394600-30395200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:30394600-30395200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr16:30394600-30395600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr16:30394600-30396000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr16:30394600-30396000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr16:30394600-30396200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr16:30394800-30395000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr16:30394800-30395000	Enhancers	Duodenum Mucosa	Duodenum
36	chr16:30394800-30395400	Enhancers	Fetal Stomach	stomach
37	chr16:30394800-30396000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr16:30394800-30396400	Enhancers	Primary T cells fromperipheralblood	blood

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