Variant report

Variant	rs774215
Chromosome Location	chr12:56918233-56918234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56916433..56918956-chr12:56923495..56926214,2	MCF-7	breast:
2	chr12:56916195..56918397-chr12:57055172..57057323,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2638287	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2638301	0.89[AMR][1000 genomes]
rs2657896	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2657907	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2657910	0.81[ASN][1000 genomes]
rs2694917	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2694919	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2933235	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs774211	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs774213	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs799260	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs799261	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs813497	1.00[AMR][1000 genomes];0.97[EUR][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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv899106	chr12:56905558-57004668	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs774215	SPRYD4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56914000-56918400	Active TSS	Stomach Smooth Muscle	stomach
2	chr12:56914000-56919200	Weak transcription	Spleen	Spleen
3	chr12:56914400-56918600	Active TSS	NHLF	lung
4	chr12:56915000-56918600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:56915000-56918600	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr12:56915200-56918400	Active TSS	HMEC	breast
7	chr12:56915200-56918800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:56915200-56919000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:56915400-56918400	Active TSS	HSMM	muscle
10	chr12:56915600-56918600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:56916400-56918800	Flanking Active TSS	HUVEC	blood vessel
12	chr12:56916600-56918600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:56916600-56923200	Weak transcription	Small Intestine	intestine
14	chr12:56916800-56918400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:56916800-56918400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:56916800-56920200	Weak transcription	HepG2	liver
17	chr12:56916800-56930400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:56917000-56920200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:56917000-56920200	Weak transcription	Fetal Heart	heart
20	chr12:56917000-56920800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:56917000-56920800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:56917000-56921600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:56917000-56923000	Weak transcription	Aorta	Aorta
24	chr12:56917000-56958000	Weak transcription	Ovary	ovary
25	chr12:56917200-56918400	Enhancers	Fetal Lung	lung
26	chr12:56917200-56918600	Weak transcription	Colonic Mucosa	Colon
27	chr12:56917200-56920200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:56917200-56920200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:56917200-56920200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:56917200-56920400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:56917200-56920600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:56917200-56920800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:56917200-56920800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:56917200-56920800	Weak transcription	Stomach Mucosa	stomach
35	chr12:56917200-56923000	Weak transcription	Psoas Muscle	Psoas
36	chr12:56917200-56956200	Weak transcription	Primary T cells from cord blood	blood
37	chr12:56917200-56959200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:56917400-56918400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:56917400-56920200	Weak transcription	Fetal Thymus	thymus
40	chr12:56917400-56924600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:56917400-56931400	Weak transcription	Right Ventricle	heart
42	chr12:56917600-56918400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:56917600-56918400	Weak transcription	Lung	lung
44	chr12:56917600-56918600	Enhancers	Rectal Smooth Muscle	rectum
45	chr12:56917600-56919800	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:56917600-56920200	Weak transcription	HSMMtube	muscle
47	chr12:56917800-56918600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:56917800-56918600	Flanking Active TSS	A549	lung
49	chr12:56918000-56918400	Flanking Active TSS	NHEK	skin
50	chr12:56918000-56919000	Weak transcription	Fetal Stomach	stomach

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