Variant report

Variant	rs13336384
Chromosome Location	chr16:31105171-31105172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4G	chr16:31104609-31105171	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:31103890-31106642	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:31103667-31119079	K562	blood:	n/a	n/a
4	MXI1	chr16:31104145-31106481	SK-N-SH	brain:	n/a	n/a
5	JUN	chr16:31105165-31106487	K562	blood:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31043165..31047105-chr16:31102487..31107326,5	MCF-7	breast:
2	chr16:30996263..30999050-chr16:31104681..31107631,2	K562	blood:
3	chr16:31104440..31108567-chr16:31128079..31131886,5	MCF-7	breast:
4	chr16:31103018..31109714-chr16:31190079..31193155,12	K562	blood:
5	chr16:31104411..31107220-chr16:31127738..31130777,6	K562	blood:
6	chr16:31104719..31108663-chr16:31190189..31193568,7	MCF-7	breast:
7	chr16:31103889..31108377-chr16:31189247..31192858,8	MCF-7	breast:
8	chr16:31044055..31045706-chr16:31104803..31106842,2	K562	blood:
9	chr16:30995825..30999208-chr16:31104283..31108641,3	MCF-7	breast:
10	chr16:30959011..30961742-chr16:31104551..31107586,3	K562	blood:
11	chr16:31104754..31107641-chr16:31225871..31228750,3	MCF-7	breast:
12	chr16:30993478..30998928-chr16:31103966..31108613,11	MCF-7	breast:
13	chr16:31043723..31046982-chr16:31104763..31108455,4	MCF-7	breast:
14	chr16:31104000..31106191-chr16:31152891..31155014,2	K562	blood:
15	chr16:30968024..30972662-chr16:31101043..31106214,4	MCF-7	breast:
16	chr16:30958416..30960902-chr16:31103309..31106232,3	MCF-7	breast:
17	chr16:31098290..31102055-chr16:31103024..31106957,5	MCF-7	breast:
18	chr16:31103434..31106492-chr16:31118402..31121759,4	K562	blood:
19	chr16:31104992..31108435-chr16:31119873..31122866,3	K562	blood:
20	chr16:31100062..31102619-chr16:31104236..31105774,2	K562	blood:
21	chr16:31008048..31010924-chr16:31103164..31107386,3	MCF-7	breast:
22	chr16:31076020..31078080-chr16:31104345..31106297,2	MCF-7	breast:
23	chr16:31103018..31108579-chr16:31189579..31192896,9	K562	blood:
24	chr16:31104528..31108651-chr16:31117626..31121071,4	MCF-7	breast:
25	chr16:31104484..31106009-chr16:31127592..31130114,2	MCF-7	breast:
26	chr16:30968251..30971465-chr16:31104162..31108928,5	MCF-7	breast:

No data

Variant related genes	Relation type
PRSS53	TF binding region
VKORC1	TF binding region
ENSG00000151006	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000169900	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000261124	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000261487	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28407985	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs28581887	1.00[AFR][1000 genomes]
rs28735175	1.00[AFR][1000 genomes]
rs9923138	0.89[AFR][1000 genomes]
rs9924926	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31086600-31105200	Weak transcription	Right Atrium	heart
2	chr16:31090000-31105200	Weak transcription	Fetal Kidney	kidney
3	chr16:31102800-31105400	Weak transcription	Aorta	Aorta
4	chr16:31103000-31105200	Weak transcription	Fetal Lung	lung
5	chr16:31103000-31105400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr16:31103800-31105400	Enhancers	Gastric	stomach
7	chr16:31104000-31105200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr16:31104000-31105200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr16:31104000-31105200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr16:31104000-31105200	Enhancers	Fetal Heart	heart
11	chr16:31104000-31105600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:31104200-31105200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr16:31104200-31105200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:31104200-31105200	Enhancers	Colon Smooth Muscle	Colon
15	chr16:31104200-31105200	Enhancers	Placenta	Placenta
16	chr16:31104200-31105200	Enhancers	Psoas Muscle	Psoas
17	chr16:31104200-31105400	Enhancers	Primary B cells from peripheral blood	blood
18	chr16:31104200-31105400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr16:31104200-31105400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr16:31104200-31105800	Flanking Active TSS	Dnd41	blood
21	chr16:31104200-31106400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:31104200-31106400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr16:31104400-31105200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:31104400-31105200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr16:31104400-31105400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr16:31104400-31105800	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr16:31104400-31106200	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr16:31104400-31106200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr16:31104400-31106200	Active TSS	HSMM	muscle
30	chr16:31104400-31106400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr16:31104400-31106400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr16:31104400-31106400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr16:31104400-31106400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr16:31104600-31105200	Enhancers	Primary B cells from cord blood	blood
35	chr16:31104600-31105200	Enhancers	Primary T cells from cord blood	blood
36	chr16:31104600-31105200	Enhancers	Primary hematopoietic stem cells	blood
37	chr16:31104600-31105200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr16:31104600-31105200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr16:31104600-31105200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:31104600-31105200	Enhancers	Fetal Stomach	stomach
41	chr16:31104600-31105200	Enhancers	Ovary	ovary
42	chr16:31104600-31105200	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr16:31104600-31105200	Enhancers	Small Intestine	intestine
44	chr16:31104600-31105200	Enhancers	Thymus	Thymus
45	chr16:31104600-31105400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr16:31104600-31105400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:31104600-31105400	Flanking Active TSS	Fetal Brain Male	brain
48	chr16:31104600-31105400	Enhancers	Spleen	Spleen
49	chr16:31104600-31105600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr16:31104600-31105800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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