Variant report

Variant	rs12881799
Chromosome Location	chr14:77840099-77840100
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77834994..77837691-chr14:77840044..77842472,2	K562	blood:
2	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:
3	chr14:77832875..77836043-chr14:77836828..77840686,4	MCF-7	breast:
4	chr14:77838311..77841794-chr14:77920547..77923802,4	MCF-7	breast:
5	chr14:77800069..77802729-chr14:77837038..77840150,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100577	Chromatin interaction
ENSG00000009830	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	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1017186	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1046428	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11845842	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11850308	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850771	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12886056	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12887558	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893462	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12894718	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468951	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17105724	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2111700	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160838	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2160839	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2160840	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364155	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759731	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56162150	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67845205	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155184	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73311369	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73311375	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8005730	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671248	0.88[AMR][1000 genomes];0.82[EUR][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:76 , 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	chr14:77817400-77841200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr14:77818000-77842000	Weak transcription	Fetal Stomach	stomach
9	chr14:77822400-77841600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:77829600-77842000	Weak transcription	Spleen	Spleen
11	chr14:77829800-77842400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:77831000-77841400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr14:77832000-77842000	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:77832600-77841400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr14:77835400-77840400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:77835600-77840800	Weak transcription	Brain Anterior Caudate	brain
17	chr14:77836000-77840600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:77836000-77842200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:77836000-77842400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:77836200-77841200	Weak transcription	Primary T cells from cord blood	blood
21	chr14:77836200-77841600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr14:77836200-77841600	Weak transcription	Thymus	Thymus
23	chr14:77836200-77842000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr14:77836200-77842000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:77836200-77842000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:77836200-77842000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr14:77836400-77840600	Weak transcription	Dnd41	blood
28	chr14:77836400-77842000	Weak transcription	Fetal Thymus	thymus
29	chr14:77837400-77841600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:77837400-77842000	Enhancers	HepG2	liver
31	chr14:77837600-77840200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:77837600-77841400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr14:77837600-77841600	Enhancers	Primary hematopoietic stem cells	blood
34	chr14:77837800-77840200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:77837800-77841800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:77838400-77840200	Enhancers	Osteobl	bone
37	chr14:77838800-77840200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:77838800-77842000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:77839000-77840200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:77839000-77840600	Weak transcription	Brain Angular Gyrus	brain
41	chr14:77839000-77841600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:77839000-77841600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:77839000-77841600	Weak transcription	Fetal Brain Male	brain
44	chr14:77839000-77841600	Weak transcription	Fetal Intestine Small	intestine
45	chr14:77839000-77841800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:77839000-77841800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:77839000-77842000	Weak transcription	Adipose Nuclei	Adipose
48	chr14:77839000-77842000	Weak transcription	Fetal Intestine Large	intestine
49	chr14:77839000-77842000	Weak transcription	Ovary	ovary
50	chr14:77839000-77842200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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