Variant report

Variant	rs61752509
Chromosome Location	chr16:31714603-31714604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31713818-31716132	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:31714327-31715392	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:31713794-31715067	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:31469614..31471877-chr16:31713296..31715229,2	K562	blood:
2	chr16:31711697..31713658-chr16:31714336..31716806,2	MCF-7	breast:
3	chr16:31467446..31470732-chr16:31710400..31715735,8	MCF-7	breast:
4	chr16:31468309..31472565-chr16:31709404..31716221,13	MCF-7	breast:
5	chr16:31084135..31087518-chr16:31711748..31714825,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260568	TF binding region
CLUHP3	TF binding region
ENSG00000260568	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000167394	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1852665	1.00[AMR][1000 genomes]
rs74017506	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
2	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv833195	chr16:31576112-31763222	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1057598	chr16:31608831-31726446	Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv1067321	chr16:31652036-31959992	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv918074	chr16:31669781-31935033	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv1063037	chr16:31669981-31934894	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv542903	chr16:31669981-31934894	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31712600-31715000	Weak transcription	Aorta	Aorta
2	chr16:31712600-31724200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr16:31712600-31724200	Weak transcription	Psoas Muscle	Psoas
4	chr16:31712600-31724200	Weak transcription	HSMM	muscle
5	chr16:31712800-31714800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr16:31712800-31715400	Weak transcription	Placenta	Placenta
7	chr16:31712800-31724200	Weak transcription	HSMMtube	muscle
8	chr16:31712800-31724200	Weak transcription	NHDF-Ad	bronchial
9	chr16:31712800-31724400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:31712800-31724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr16:31713000-31714800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:31713000-31714800	Weak transcription	Colon Smooth Muscle	Colon
13	chr16:31713000-31715400	Weak transcription	Fetal Lung	lung
14	chr16:31713000-31716400	Weak transcription	Osteobl	bone
15	chr16:31713000-31724400	Weak transcription	Right Atrium	heart
16	chr16:31713200-31714800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr16:31713200-31714800	Weak transcription	Brain Hippocampus Middle	brain
18	chr16:31713200-31715000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:31713200-31715400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:31713200-31715400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:31713200-31715400	Weak transcription	Small Intestine	intestine
22	chr16:31713200-31715600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr16:31713200-31724000	Weak transcription	Fetal Heart	heart
24	chr16:31713200-31724200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr16:31713400-31715600	Weak transcription	HMEC	breast
26	chr16:31713400-31720000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:31713400-31720800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr16:31713400-31722400	Strong transcription	Fetal Intestine Small	intestine
29	chr16:31713400-31724000	Weak transcription	K562	blood
30	chr16:31713400-31724200	Weak transcription	Fetal Brain Male	brain
31	chr16:31713600-31714800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr16:31713600-31715000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr16:31713600-31715200	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr16:31713600-31717000	Weak transcription	Stomach Mucosa	stomach
35	chr16:31713600-31718800	Strong transcription	Primary T cells from cord blood	blood
36	chr16:31713600-31720800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:31713600-31722200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr16:31713800-31715800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr16:31713800-31716400	Strong transcription	Primary B cells from cord blood	blood
40	chr16:31713800-31718200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:31713800-31719000	Strong transcription	Thymus	Thymus
42	chr16:31713800-31719200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr16:31713800-31720000	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr16:31713800-31720000	Strong transcription	Colonic Mucosa	Colon
45	chr16:31713800-31720400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr16:31713800-31720800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:31713800-31721400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr16:31713800-31721400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr16:31713800-31721600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr16:31713800-31721800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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