Variant report

Variant	rs16955751
Chromosome Location	chr16:81731233-81731234
allele	A/G
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:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81729153..81731833-chr16:81743451..81746002,2	MCF-7	breast:
2	chr16:81475858..81478568-chr16:81729319..81732099,2	K562	blood:
3	chr16:81730652..81731383-chr16:81771565..81772253,2	MCF-7	breast:
4	chr16:81726984..81731246-chr16:81732450..81737036,4	MCF-7	breast:
5	chr16:81731022..81732663-chr16:81734009..81736117,2	K562	blood:
6	chr16:81436788..81437850-chr16:81730501..81731765,8	MCF-7	breast:
7	chr16:81399729..81400539-chr16:81730864..81731487,2	MCF-7	breast:
8	chr16:81435943..81438207-chr16:81730859..81732900,2	MCF-7	breast:
9	chr16:81439134..81439811-chr16:81730614..81731277,3	MCF-7	breast:
10	chr16:81656727..81657699-chr16:81730549..81731454,3	K562	blood:
11	chr16:81462259..81462772-chr16:81731086..81732049,2	MCF-7	breast:
12	chr16:81616214..81616953-chr16:81730576..81731454,2	MCF-7	breast:
13	chr16:81436903..81437571-chr16:81730620..81731331,2	MCF-7	breast:
14	chr16:81666751..81667490-chr16:81730762..81731414,3	MCF-7	breast:
15	chr16:81656309..81658434-chr16:81730439..81731504,14	MCF-7	breast:
16	chr16:81730274..81732700-chr16:81737067..81739760,2	MCF-7	breast:
17	chr16:81730936..81733026-chr16:81743181..81745537,2	K562	blood:
18	chr16:81730757..81732987-chr16:81738352..81740599,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLCG2-3	chr16:81729042-81731726	NONHSAT143954
2	lnc-PLCG2-3	chr16:81730165-81731452	NONHSAT143953

No data

Variant related genes	Relation type
ENSG00000261218	Chromatin interaction
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1017238	0.82[CEU][hapmap]
rs10454070	0.85[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1047289	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11150399	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2288011	0.82[CEU][hapmap]
rs55894401	0.90[ASN][1000 genomes]
rs58070059	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7186510	0.88[ASW][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.93[LWK][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
2	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
3	nsv907011	chr16:81639190-81757252	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16955751	CDH13	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81688400-81736800	Weak transcription	NHDF-Ad	bronchial
2	chr16:81713200-81740600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr16:81713200-81744400	Weak transcription	Fetal Kidney	kidney
4	chr16:81721800-81748400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr16:81722000-81738400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr16:81724000-81743400	Strong transcription	HepG2	liver
7	chr16:81724400-81745800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:81724600-81733000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr16:81724600-81734000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr16:81724600-81743400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr16:81724600-81746000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr16:81724800-81732000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr16:81724800-81736400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr16:81724800-81740600	Strong transcription	Gastric	stomach
15	chr16:81724800-81741400	Strong transcription	Liver	Liver
16	chr16:81724800-81743200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr16:81724800-81743400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr16:81724800-81743400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr16:81724800-81743400	Strong transcription	Dnd41	blood
20	chr16:81724800-81744400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr16:81724800-81744600	Strong transcription	Primary T cells from cord blood	blood
22	chr16:81725000-81731600	Genic enhancers	Adipose Nuclei	Adipose
23	chr16:81725000-81733200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr16:81725000-81744400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr16:81725000-81744600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr16:81725000-81746000	Strong transcription	Thymus	Thymus
27	chr16:81725200-81743200	Strong transcription	Primary B cells from cord blood	blood
28	chr16:81725600-81739600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr16:81725600-81741200	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr16:81725800-81748200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr16:81726000-81732400	Genic enhancers	Fetal Muscle Leg	muscle
32	chr16:81726000-81732400	Genic enhancers	Fetal Stomach	stomach
33	chr16:81726000-81733800	Enhancers	Fetal Brain Male	brain
34	chr16:81726400-81732800	Genic enhancers	Fetal Lung	lung
35	chr16:81726800-81731400	Strong transcription	GM12878-XiMat	blood
36	chr16:81727200-81731400	Genic enhancers	A549	lung
37	chr16:81727200-81740600	Weak transcription	Hela-S3	cervix
38	chr16:81727800-81731400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr16:81727800-81732200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr16:81727800-81732400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr16:81727800-81732800	Genic enhancers	Fetal Thymus	thymus
42	chr16:81727800-81736800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:81728000-81733800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:81728000-81735000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr16:81728000-81738000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr16:81728000-81738600	Weak transcription	Aorta	Aorta
47	chr16:81728000-81741000	Strong transcription	Placenta	Placenta
48	chr16:81728200-81732400	Enhancers	Brain Angular Gyrus	brain
49	chr16:81728200-81732400	Enhancers	Brain Cingulate Gyrus	brain
50	chr16:81728200-81732800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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