Variant report

Variant	rs376446947
Chromosome Location	chr16:71756493-71756494
allele	A/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	TEAD4	chr16:71756463-71757099	HepG2	liver:	n/a	n/a
2	RCOR1	chr16:71756459-71758468	IMR90	lung:	n/a	n/a
3	SIN3AK20	chr16:71756411-71757379	MCF-7	breast:	n/a	n/a
4	SIN3AK20	chr16:71756401-71758541	MCF-7	breast:	n/a	n/a
5	SIN3AK20	chr16:71756488-71756900	A549	lung:	n/a	n/a
6	MXI1	chr16:71756396-71758734	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:71756383..71758703-chr16:71759355..71761226,2	MCF-7	breast:
2	chr16:71756102..71758936-chr16:71915033..71919382,3	MCF-7	breast:
3	chr16:71756273..71758753-chr16:71927656..71930818,3	MCF-7	breast:
4	chr16:71755537..71758357-chr16:71878950..71881033,2	K562	blood:
5	chr16:71756413..71761113-chr16:71764688..71769079,7	K562	blood:
6	chr16:71748955..71755873-chr16:71756069..71760101,14	MCF-7	breast:
7	chr16:71756422..71758416-chr16:71842004..71843953,2	MCF-7	breast:
8	chr16:71755635..71758602-chr16:71927230..71929480,2	MCF-7	breast:
9	chr16:71756251..71759040-chr16:71918074..71919809,2	K562	blood:
10	chr16:71658952..71666464-chr16:71755738..71760832,8	MCF-7	breast:
11	chr1:11967125..11969776-chr16:71755847..71757507,2	MCF-7	breast:
12	chr16:71755880..71759578-chr16:71759607..71764621,8	MCF-7	breast:
13	chr16:71756009..71758513-chr16:71878989..71881221,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260612	TF binding region
ENSG00000261513	TF binding region
ENSG00000224470	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000260612	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000140832	Chromatin interaction
ENSG00000261765	Chromatin interaction
ENSG00000260593	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a
5	esv3326836	chr16:71756476-71759024	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71683800-71756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:71705000-71756800	Weak transcription	Gastric	stomach
3	chr16:71710600-71756800	Weak transcription	Lung	lung
4	chr16:71716800-71756600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr16:71725000-71756600	Weak transcription	Left Ventricle	heart
6	chr16:71733400-71756600	Weak transcription	Aorta	Aorta
7	chr16:71734000-71756600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr16:71734000-71756600	Weak transcription	Thymus	Thymus
9	chr16:71734000-71756800	Weak transcription	Pancreas	Pancrea
10	chr16:71741600-71756800	Weak transcription	Small Intestine	intestine
11	chr16:71741800-71756600	Weak transcription	Psoas Muscle	Psoas
12	chr16:71742000-71756600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:71742000-71756800	Weak transcription	Spleen	Spleen
14	chr16:71753400-71756800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:71753800-71756600	Weak transcription	Fetal Muscle Leg	muscle
16	chr16:71755600-71758000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr16:71755800-71758400	Active TSS	NHLF	lung
18	chr16:71756000-71756600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr16:71756000-71756600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:71756000-71756600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr16:71756000-71756600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr16:71756000-71756600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr16:71756000-71756600	Enhancers	Brain Hippocampus Middle	brain
24	chr16:71756000-71756600	Enhancers	Fetal Muscle Trunk	muscle
25	chr16:71756000-71756600	Enhancers	Fetal Thymus	thymus
26	chr16:71756000-71756600	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr16:71756000-71756600	Enhancers	Stomach Mucosa	stomach
28	chr16:71756000-71756600	Flanking Active TSS	HepG2	liver
29	chr16:71756000-71756800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr16:71756000-71756800	Enhancers	Esophagus	oesophagus
31	chr16:71756000-71756800	Flanking Active TSS	Hela-S3	cervix
32	chr16:71756000-71757000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:71756000-71757000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr16:71756200-71756600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr16:71756200-71756600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr16:71756200-71756600	Enhancers	Primary B cells from peripheral blood	blood
37	chr16:71756200-71756600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr16:71756200-71756600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr16:71756200-71756600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr16:71756200-71756600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:71756200-71756600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:71756200-71756600	Enhancers	Colon Smooth Muscle	Colon
43	chr16:71756200-71756600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr16:71756200-71756600	Enhancers	Fetal Stomach	stomach
45	chr16:71756200-71756600	Weak transcription	Ovary	ovary
46	chr16:71756200-71756600	Flanking Active TSS	HMEC	breast
47	chr16:71756200-71756800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr16:71756200-71756800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr16:71756200-71756800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr16:71756200-71756800	Flanking Active TSS	GM12878-XiMat	blood

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