Variant report

Variant	rs573545381
Chromosome Location	chr16:30378978-30378979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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
ENSG00000183604	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000179965	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30368200-30379000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:30369400-30380000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:30370800-30379000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr16:30371000-30379200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr16:30372000-30379200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr16:30374800-30379600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr16:30375800-30379000	Enhancers	Fetal Heart	heart
8	chr16:30376400-30379000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr16:30377000-30379000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:30377400-30379000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:30377600-30379400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:30377800-30379000	Enhancers	Small Intestine	intestine
13	chr16:30377800-30379600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr16:30378000-30379000	Genic enhancers	Primary monocytes fromperipheralblood	blood
15	chr16:30378000-30379000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr16:30378000-30379200	Enhancers	Primary B cells from cord blood	blood
17	chr16:30378000-30379200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:30378000-30379400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr16:30378000-30379400	Transcr. at gene 5' and 3'	Dnd41	blood
20	chr16:30378000-30379600	Enhancers	Primary B cells from peripheral blood	blood
21	chr16:30378200-30379000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr16:30378200-30379000	Enhancers	Aorta	Aorta
23	chr16:30378200-30379000	Genic enhancers	Fetal Muscle Trunk	muscle
24	chr16:30378200-30379000	Enhancers	Placenta	Placenta
25	chr16:30378200-30379000	Enhancers	Fetal Thymus	thymus
26	chr16:30378200-30379000	Enhancers	Ovary	ovary
27	chr16:30378200-30380000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr16:30378200-30380600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:30378400-30379000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:30378400-30379200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr16:30378400-30379800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
32	chr16:30378400-30380600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr16:30378600-30379000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr16:30378600-30379000	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
35	chr16:30378600-30379200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr16:30378600-30379400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:30378600-30379400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
38	chr16:30378600-30379400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
39	chr16:30378600-30379400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
40	chr16:30378600-30379400	Flanking Active TSS	NHDF-Ad	bronchial
41	chr16:30378600-30379600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr16:30378600-30379600	Flanking Active TSS	Psoas Muscle	Psoas
43	chr16:30378600-30379600	Transcr. at gene 5' and 3'	K562	blood
44	chr16:30378600-30379800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr16:30378600-30379800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr16:30378600-30379800	Enhancers	Spleen	Spleen
47	chr16:30378600-30380000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr16:30378600-30380200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:30378600-30380400	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr16:30378600-30380400	Flanking Active TSS	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links