Variant report

Variant	rs152826
Chromosome Location	chr16:72126180-72126181
allele	C/T
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	MAZ	chr16:72126160-72128982	IMR90	lung:	n/a	chr16:72127351-72127360

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:72117368..72119841-chr16:72123694..72126741,5	MCF-7	breast:
2	chr16:72087766..72090367-chr16:72125547..72128434,2	K562	blood:
3	chr16:72042306..72048206-chr16:72125753..72130155,8	MCF-7	breast:
4	chr16:72083527..72085440-chr16:72125131..72126986,2	MCF-7	breast:
5	chr16:72040983..72044286-chr16:72126039..72129128,5	MCF-7	breast:
6	chr16:72049013..72051278-chr16:72125940..72127742,2	MCF-7	breast:
7	chr16:72088867..72091285-chr16:72125547..72127887,2	K562	blood:
8	chr16:71840719..71844104-chr16:72124883..72128411,3	K562	blood:

No data

Variant related genes	Relation type
DHX38	TF binding region
ENSG00000261701	Chromatin interaction
ENSG00000260252	Chromatin interaction
ENSG00000257017	Chromatin interaction
ENSG00000102967	Chromatin interaction
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs150617	0.82[EUR][1000 genomes]
rs152827	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs152828	0.84[EUR][1000 genomes]
rs152838	0.83[EUR][1000 genomes]
rs30433	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking 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	58 gene(s)	inside rSNPs	diseases
7	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
9	esv1808086	chr16:72088669-72128767	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
10	esv3343168	chr16:72111500-72128436	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72106600-72126400	Weak transcription	Small Intestine	intestine
2	chr16:72108000-72126400	Weak transcription	Fetal Heart	heart
3	chr16:72117000-72126600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:72119400-72126200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:72119400-72126400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr16:72119400-72126400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:72120400-72126200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:72120600-72126800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:72121800-72126400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr16:72123600-72126200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr16:72123800-72126200	Weak transcription	Stomach Mucosa	stomach
12	chr16:72123800-72126400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr16:72124200-72126200	Weak transcription	HSMM	muscle
14	chr16:72124200-72126400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr16:72124200-72126400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr16:72124200-72126400	Weak transcription	Fetal Kidney	kidney
17	chr16:72124400-72126200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr16:72124400-72126200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr16:72124400-72126400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr16:72124400-72126400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:72124400-72126400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr16:72124400-72126400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr16:72124400-72126400	Weak transcription	Aorta	Aorta
24	chr16:72124400-72126400	Weak transcription	Gastric	stomach
25	chr16:72124400-72126400	Weak transcription	Spleen	Spleen
26	chr16:72124600-72126200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr16:72124600-72126200	Weak transcription	Fetal Thymus	thymus
28	chr16:72124600-72126200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr16:72124600-72126400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr16:72124800-72126400	Weak transcription	HSMMtube	muscle
31	chr16:72125000-72126200	Enhancers	Adipose Nuclei	Adipose
32	chr16:72125000-72126200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr16:72125000-72126400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr16:72125000-72126400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr16:72125000-72126400	Enhancers	Brain Cingulate Gyrus	brain
36	chr16:72125000-72126400	Weak transcription	Colonic Mucosa	Colon
37	chr16:72125000-72126400	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr16:72125000-72126400	Enhancers	A549	lung
39	chr16:72125000-72126400	Weak transcription	NH-A	brain
40	chr16:72125000-72126600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr16:72125200-72126200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr16:72125200-72126200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:72125200-72126200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr16:72125200-72126200	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr16:72125200-72126400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr16:72125200-72126400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr16:72125200-72126400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr16:72125200-72126400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr16:72125200-72126400	Enhancers	Brain Germinal Matrix	brain
50	chr16:72125200-72126400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links