Variant report

Variant	rs74015068
Chromosome Location	chr16:31122550-31122551
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31119694-31122744	K562	blood:	n/a	n/a
2	POLR2A	chr16:31122359-31126302	K562	blood:	n/a	n/a
3	POLR2A	chr16:31121189-31129707	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:31122495-31122740	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31104992..31108435-chr16:31119873..31122866,3	K562	blood:
2	chr16:31117975..31125175-chr16:31188698..31192934,10	MCF-7	breast:
3	chr16:31086708..31088428-chr16:31122064..31123983,2	MCF-7	breast:
4	chr16:31120937..31123085-chr16:31137751..31141720,3	MCF-7	breast:
5	chr16:31119811..31122617-chr16:31200745..31202517,2	K562	blood:
6	chr16:31083571..31086239-chr16:31118530..31123064,5	MCF-7	breast:
7	chr16:31099505..31101378-chr16:31121565..31123348,2	K562	blood:

No data

Variant related genes	Relation type
BCKDK	TF binding region
KAT8	TF binding region
ENSG00000255439	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000151006	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000167397	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13331793	1.00[AMR][1000 genomes]
rs13339393	1.00[AMR][1000 genomes]
rs17878259	0.82[AFR][1000 genomes]
rs28428182	1.00[AMR][1000 genomes]
rs28637378	1.00[AMR][1000 genomes]
rs34107331	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34259949	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34831291	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34889904	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56196402	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59076556	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61237574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015066	1.00[AMR][1000 genomes]
rs74015069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015071	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015099	1.00[AMR][1000 genomes]
rs74018303	1.00[AMR][1000 genomes]
rs9888851	1.00[AMR][1000 genomes]
rs9922051	1.00[AMR][1000 genomes]
rs9933960	1.00[AMR][1000 genomes]
rs9940181	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription 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 miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
11	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
13	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
14	nsv905743	chr16:31111064-31129942	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31120000-31128400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:31120400-31124200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:31120400-31128400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:31120600-31127800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr16:31120600-31128200	Weak transcription	Fetal Kidney	kidney
6	chr16:31120600-31128400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr16:31120800-31122800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr16:31120800-31123400	Strong transcription	K562	blood
9	chr16:31120800-31123600	Weak transcription	Psoas Muscle	Psoas
10	chr16:31120800-31123800	Strong transcription	Fetal Lung	lung
11	chr16:31120800-31124000	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr16:31120800-31124200	Genic enhancers	Esophagus	oesophagus
13	chr16:31120800-31124400	Strong transcription	Fetal Intestine Large	intestine
14	chr16:31120800-31124400	Weak transcription	Right Atrium	heart
15	chr16:31120800-31124600	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr16:31120800-31124600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr16:31120800-31124800	Strong transcription	NHEK	skin
18	chr16:31120800-31125200	Strong transcription	Thymus	Thymus
19	chr16:31120800-31128200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr16:31120800-31128200	Weak transcription	Fetal Heart	heart
21	chr16:31120800-31128200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr16:31120800-31129000	Weak transcription	Small Intestine	intestine
23	chr16:31121000-31122600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr16:31121000-31123400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:31121000-31123800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr16:31121000-31123800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr16:31121000-31123800	Strong transcription	A549	lung
28	chr16:31121000-31124000	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr16:31121000-31124000	Strong transcription	Brain Angular Gyrus	brain
30	chr16:31121000-31124000	Strong transcription	Brain Substantia Nigra	brain
31	chr16:31121000-31124000	Strong transcription	Colonic Mucosa	Colon
32	chr16:31121000-31124000	Strong transcription	Fetal Thymus	thymus
33	chr16:31121000-31124000	Strong transcription	Ovary	ovary
34	chr16:31121000-31124200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr16:31121000-31124200	Strong transcription	Fetal Intestine Small	intestine
36	chr16:31121000-31124200	Genic enhancers	Pancreas	Pancrea
37	chr16:31121000-31124200	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr16:31121000-31124200	Weak transcription	Stomach Mucosa	stomach
39	chr16:31121000-31124400	Strong transcription	Primary B cells from peripheral blood	blood
40	chr16:31121000-31124400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr16:31121000-31124400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:31121000-31124600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr16:31121000-31124600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr16:31121000-31124600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:31121000-31124600	Strong transcription	Brain Anterior Caudate	brain
46	chr16:31121000-31124600	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr16:31121000-31124600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:31121000-31124600	Strong transcription	NHDF-Ad	bronchial
49	chr16:31121000-31124800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:31121000-31124800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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