Variant report

Variant	rs2927335
Chromosome Location	chr16:81507033-81507034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81506233..81509171-chr16:81529935..81531469,2	MCF-7	breast:
2	chr16:81504288..81507057-chr16:81508113..81511868,3	MCF-7	breast:
3	chr16:81480768..81483026-chr16:81506735..81508794,2	MCF-7	breast:
4	chr16:81493353..81497487-chr16:81505659..81509589,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260229	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12443828	0.89[JPT][hapmap]
rs17197603	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2925998	0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs2927300	0.88[ASN][1000 genomes]
rs2927336	1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[ASN][1000 genomes]
rs2927337	1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[ASN][1000 genomes]
rs2966123	0.85[AMR][1000 genomes]
rs62043928	0.88[ASN][1000 genomes]
rs8044403	0.94[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.84[LWK][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv34108	chr16:81469090-81510471	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv3401957	chr16:81502651-81507149	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3419798	chr16:81503451-81507349	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2927335	CDYL2	cis	cerebellum	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81485600-81516800	Weak transcription	Hela-S3	cervix
2	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:81487000-81507200	Weak transcription	Colon Smooth Muscle	Colon
4	chr16:81490600-81509800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr16:81492200-81512200	Genic enhancers	A549	lung
6	chr16:81496800-81514400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr16:81497600-81514600	Weak transcription	HSMM	muscle
8	chr16:81501800-81514400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr16:81501800-81515200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:81503000-81516600	Weak transcription	Brain Germinal Matrix	brain
11	chr16:81503800-81511200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:81504000-81509800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr16:81504000-81511600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:81504000-81517800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr16:81504200-81507200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr16:81504200-81507800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr16:81504200-81513400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr16:81504200-81518200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr16:81504400-81507800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr16:81504400-81507800	Genic enhancers	Duodenum Mucosa	Duodenum
21	chr16:81504400-81507800	Genic enhancers	Gastric	stomach
22	chr16:81504400-81508600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr16:81504400-81508800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:81504400-81508800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr16:81504400-81514600	Strong transcription	NHEK	skin
26	chr16:81504600-81507400	Genic enhancers	Primary T cells from cord blood	blood
27	chr16:81504800-81507200	Strong transcription	Fetal Intestine Large	intestine
28	chr16:81504800-81507800	Genic enhancers	Primary monocytes fromperipheralblood	blood
29	chr16:81505000-81508200	Genic enhancers	Monocytes-CD14+_RO01746	blood
30	chr16:81505200-81508000	Genic enhancers	Primary T cells fromperipheralblood	blood
31	chr16:81505200-81508200	Genic enhancers	HepG2	liver
32	chr16:81505200-81511800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr16:81505200-81525600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr16:81505400-81521800	Weak transcription	Fetal Kidney	kidney
35	chr16:81505600-81508400	Enhancers	HUVEC	blood vessel
36	chr16:81505600-81508600	Enhancers	Placenta	Placenta
37	chr16:81505600-81512800	Strong transcription	Dnd41	blood
38	chr16:81505800-81507200	Strong transcription	Thymus	Thymus
39	chr16:81505800-81508000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr16:81505800-81508000	Genic enhancers	Lung	lung
41	chr16:81505800-81508400	Enhancers	Liver	Liver
42	chr16:81505800-81508400	Enhancers	Right Atrium	heart
43	chr16:81505800-81508600	Weak transcription	K562	blood
44	chr16:81505800-81514200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr16:81505800-81515000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr16:81505800-81523600	Weak transcription	Fetal Brain Male	brain
47	chr16:81506000-81508000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:81506000-81508000	Enhancers	Colonic Mucosa	Colon
49	chr16:81506000-81508400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr16:81506000-81508400	Enhancers	Left Ventricle	heart

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