Variant report

Variant	rs12887558
Chromosome Location	chr14:77841358-77841359
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:8)
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	MXI1	chr14:77841038-77844400	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr14:77840528-77841421	MCF-7	breast:	n/a	n/a
3	SIN3AK20	chr14:77840454-77841410	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:77840497..77841430-chr14:77866326..77867203,8	MCF-7	breast:
2	chr14:77841182..77844130-chr14:78173275..78175250,2	MCF-7	breast:
3	chr14:77834994..77837691-chr14:77840044..77842472,2	K562	blood:
4	chr14:77840462..77841430-chr14:77866326..77867416,14	MCF-7	breast:
5	chr14:77826527..77828604-chr14:77841218..77842967,2	MCF-7	breast:
6	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:
7	chr14:77800138..77802593-chr14:77840615..77842904,2	MCF-7	breast:
8	chr14:77838311..77841794-chr14:77920547..77923802,4	MCF-7	breast:

No data

Variant related genes	Relation type
SAMD15	TF binding region
ENSG00000100577	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000100601	Chromatin interaction
ENSG00000119705	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10132619	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1017186	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1046428	0.85[ASN][1000 genomes]
rs11845842	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11850308	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850771	0.85[ASN][1000 genomes]
rs12881799	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886056	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893462	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12894718	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468951	0.85[ASN][1000 genomes]
rs17105724	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2111700	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160838	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2160839	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2160840	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364155	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759731	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56162150	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67845205	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155184	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73311369	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73311375	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8005730	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671248	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902107	chr14:77790416-77871777	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77809600-77842000	Weak transcription	HUVEC	blood vessel
2	chr14:77812800-77842000	Weak transcription	Pancreas	Pancrea
3	chr14:77813800-77842400	Weak transcription	Aorta	Aorta
4	chr14:77817000-77842000	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:77817200-77841600	Weak transcription	Brain Germinal Matrix	brain
6	chr14:77817200-77842000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:77818000-77842000	Weak transcription	Fetal Stomach	stomach
8	chr14:77822400-77841600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:77829600-77842000	Weak transcription	Spleen	Spleen
10	chr14:77829800-77842400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:77831000-77841400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr14:77832000-77842000	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:77832600-77841400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr14:77836000-77842200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:77836000-77842400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:77836200-77841600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr14:77836200-77841600	Weak transcription	Thymus	Thymus
18	chr14:77836200-77842000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr14:77836200-77842000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:77836200-77842000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:77836200-77842000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr14:77836400-77842000	Weak transcription	Fetal Thymus	thymus
23	chr14:77837400-77841600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:77837400-77842000	Enhancers	HepG2	liver
25	chr14:77837600-77841400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr14:77837600-77841600	Enhancers	Primary hematopoietic stem cells	blood
27	chr14:77837800-77841800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:77838800-77842000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:77839000-77841600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:77839000-77841600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:77839000-77841600	Weak transcription	Fetal Brain Male	brain
32	chr14:77839000-77841600	Weak transcription	Fetal Intestine Small	intestine
33	chr14:77839000-77841800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:77839000-77841800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:77839000-77842000	Weak transcription	Adipose Nuclei	Adipose
36	chr14:77839000-77842000	Weak transcription	Fetal Intestine Large	intestine
37	chr14:77839000-77842000	Weak transcription	Ovary	ovary
38	chr14:77839000-77842200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr14:77839000-77842400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr14:77839200-77841400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:77839200-77841600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:77839200-77841600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr14:77839200-77841600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:77839200-77841600	Weak transcription	Liver	Liver
45	chr14:77839200-77841800	Enhancers	Primary B cells from peripheral blood	blood
46	chr14:77839200-77842600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr14:77839600-77842000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:77839600-77842000	Weak transcription	Fetal Muscle Leg	muscle
49	chr14:77839800-77841600	Flanking Active TSS	GM12878-XiMat	blood
50	chr14:77839800-77841800	Enhancers	Pancreatic Islets	Pancreatic Islet

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