Variant report

Variant	rs184970889
Chromosome Location	chr16:30379035-30379036
allele	A/G
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:8)
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	POLR2A	chr16:30378984-30379096	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30374941..30377851-chr16:30378291..30382008,9	K562	blood:
2	chr16:30344696..30347636-chr16:30378058..30380333,2	MCF-7	breast:
3	chr16:30376477..30383094-chr16:30415979..30420163,8	MCF-7	breast:
4	chr16:30368801..30385970-chr16:30403825..30413311,30	MCF-7	breast:
5	chr16:30378764..30380971-chr16:30419142..30421108,2	K562	blood:
6	chr16:30376934..30383374-chr16:30417165..30421108,8	K562	blood:
7	chr16:30376626..30379434-chr16:30417426..30420453,4	MCF-7	breast:
8	chr16:30378594..30387256-chr16:30387352..30391288,21	MCF-7	breast:

No data

Variant related genes	Relation type
TBC1D10B	TF binding region
MYLPF	TF binding region
ENSG00000169221	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000183604	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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	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	esv2758420	chr16:30073955-30383280	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	esv2758642	chr16:30073955-30383280	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	esv1794891	chr16:30376269-30382642	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	esv1795117	chr16:30376269-30382642	Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription 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	14 gene(s)	inside rSNPs	diseases
11	esv1803705	chr16:30376269-30382642	Genic enhancers Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
12	esv1791873	chr16:30376959-30382642	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
13	esv1801199	chr16:30376959-30382642	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
14	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30369400-30380000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:30371000-30379200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr16:30372000-30379200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr16:30374800-30379600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr16:30377600-30379400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:30377800-30379600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:30378000-30379200	Enhancers	Primary B cells from cord blood	blood
8	chr16:30378000-30379200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:30378000-30379400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr16:30378000-30379400	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr16:30378000-30379600	Enhancers	Primary B cells from peripheral blood	blood
12	chr16:30378200-30380000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr16:30378200-30380600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:30378400-30379200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr16:30378400-30379800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
16	chr16:30378400-30380600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr16:30378600-30379200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:30378600-30379400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:30378600-30379400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
20	chr16:30378600-30379400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
21	chr16:30378600-30379400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
22	chr16:30378600-30379400	Flanking Active TSS	NHDF-Ad	bronchial
23	chr16:30378600-30379600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr16:30378600-30379600	Flanking Active TSS	Psoas Muscle	Psoas
25	chr16:30378600-30379600	Transcr. at gene 5' and 3'	K562	blood
26	chr16:30378600-30379800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:30378600-30379800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr16:30378600-30379800	Enhancers	Spleen	Spleen
29	chr16:30378600-30380000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr16:30378600-30380200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:30378600-30380400	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr16:30378600-30380400	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr16:30378600-30380400	Flanking Active TSS	Hela-S3	cervix
34	chr16:30378600-30380600	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr16:30378600-30380600	Flanking Active TSS	Fetal Brain Male	brain
36	chr16:30378600-30381000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr16:30378600-30381000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:30378600-30381000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr16:30378600-30381000	Flanking Active TSS	Osteobl	bone
40	chr16:30378600-30381200	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr16:30378600-30381200	Active TSS	Fetal Kidney	kidney
42	chr16:30378600-30381200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr16:30378600-30381400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr16:30378800-30379200	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr16:30378800-30379200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:30378800-30379200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr16:30378800-30379200	Enhancers	Primary hematopoietic stem cells	blood
48	chr16:30378800-30379200	Transcr. at gene 5' and 3'	Lung	lung
49	chr16:30378800-30379200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
50	chr16:30378800-30379200	Flanking Active TSS	HSMMtube	muscle

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