Variant report

Variant	rs28407985
Chromosome Location	chr16:31087938-31087939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31087276-31088092	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:31087913-31088250	K562	blood:	n/a	n/a
3	POLR2A	chr16:31087309-31087940	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:31087886-31088079	K562	blood:	n/a	n/a
5	POLR2A	chr16:31087448-31088769	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr16:31087379-31088367	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31087818..31090792-chr16:31123412..31125216,2	MCF-7	breast:
2	chr16:31082772..31088721-chr16:31466605..31471958,8	MCF-7	breast:
3	chr16:30967179..30972282-chr16:31082507..31088894,13	MCF-7	breast:
4	chr16:31085251..31088144-chr16:31197291..31199789,2	MCF-7	breast:
5	chr16:31082869..31088846-chr16:31189629..31192848,9	MCF-7	breast:
6	chr16:31087688..31090399-chr16:31119019..31121318,2	MCF-7	breast:
7	chr16:31083033..31088054-chr16:31143674..31155673,17	MCF-7	breast:
8	chr16:31083873..31090665-chr16:31187351..31192875,15	MCF-7	breast:
9	chr16:30991043..31010547-chr16:31082350..31088728,42	MCF-7	breast:
10	chr16:31086708..31088428-chr16:31122064..31123983,2	MCF-7	breast:
11	chr16:30967393..30971949-chr16:31083830..31088417,7	K562	blood:
12	chr16:31083576..31088702-chr16:31125774..31130494,10	K562	blood:
13	chr16:31007019..31009950-chr16:31086954..31088883,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF668	TF binding region
ENSG00000260267	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000052344	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000268863	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11865730	1.00[CEU][hapmap]
rs12597042	1.00[CHB][hapmap]
rs13336384	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1549294	1.00[AMR][1000 genomes]
rs28581887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28735175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9923138	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31086400-31092400	Weak transcription	Small Intestine	intestine
2	chr16:31086400-31104400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:31086600-31088000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr16:31086600-31088000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:31086600-31088000	Weak transcription	Fetal Kidney	kidney
6	chr16:31086600-31088000	Weak transcription	NHEK	skin
7	chr16:31086600-31088200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr16:31086600-31088200	Weak transcription	HSMMtube	muscle
9	chr16:31086600-31089400	Weak transcription	NH-A	brain
10	chr16:31086600-31091000	Weak transcription	Psoas Muscle	Psoas
11	chr16:31086600-31104200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:31086600-31105200	Weak transcription	Right Atrium	heart
13	chr16:31086800-31088000	Weak transcription	Fetal Lung	lung
14	chr16:31086800-31093000	Weak transcription	Fetal Heart	heart
15	chr16:31087000-31088000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr16:31087000-31089400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:31087200-31088000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:31087200-31088000	Weak transcription	GM12878-XiMat	blood
19	chr16:31087200-31088400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr16:31087200-31088400	Genic enhancers	Dnd41	blood
21	chr16:31087200-31090800	Strong transcription	Primary B cells from cord blood	blood
22	chr16:31087200-31092800	Strong transcription	Brain Substantia Nigra	brain
23	chr16:31087200-31093000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr16:31087200-31093200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr16:31087200-31093400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr16:31087200-31095800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:31087200-31097000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:31087200-31102000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:31087200-31103800	Strong transcription	NHLF	lung
30	chr16:31087200-31104200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:31087400-31088000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr16:31087400-31088000	Genic enhancers	Fetal Muscle Trunk	muscle
33	chr16:31087400-31088000	Genic enhancers	Spleen	Spleen
34	chr16:31087400-31088200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr16:31087400-31088200	Strong transcription	Fetal Muscle Leg	muscle
36	chr16:31087400-31088400	Strong transcription	Fetal Stomach	stomach
37	chr16:31087400-31089000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr16:31087400-31089200	Strong transcription	Esophagus	oesophagus
39	chr16:31087400-31089200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr16:31087400-31089400	Weak transcription	Fetal Brain Male	brain
41	chr16:31087400-31089600	Strong transcription	Brain Germinal Matrix	brain
42	chr16:31087400-31090000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr16:31087400-31090600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr16:31087400-31090600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:31087400-31091200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr16:31087400-31091200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr16:31087400-31092400	Strong transcription	Fetal Brain Female	brain
48	chr16:31087400-31092600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr16:31087400-31093000	Strong transcription	Brain Anterior Caudate	brain
50	chr16:31087400-31093000	Strong transcription	Brain Cingulate Gyrus	brain

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