Variant report

Variant	rs12100931
Chromosome Location	chr14:32551258-32551259
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32546737..32549001-chr14:32550002..32551642,2	K562	blood:

Variant related genes	Relation type
ENSG00000100852	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10134888	1.00[EUR][1000 genomes]
rs10143850	1.00[EUR][1000 genomes]
rs11849454	1.00[EUR][1000 genomes]
rs12100687	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs12100688	1.00[EUR][1000 genomes]
rs12100768	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100775	1.00[ASN][1000 genomes]
rs12100930	1.00[EUR][1000 genomes]
rs12101226	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17098508	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28765407	1.00[EUR][1000 genomes]
rs28802314	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28845852	1.00[EUR][1000 genomes]
rs57218277	1.00[EUR][1000 genomes]
rs58280109	1.00[EUR][1000 genomes]
rs59021515	1.00[EUR][1000 genomes]
rs59609395	1.00[EUR][1000 genomes]
rs7140954	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7148967	1.00[MEX][hapmap]
rs7152059	1.00[ASW][hapmap];1.00[CHB][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.80[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157301	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74041589	1.00[EUR][1000 genomes]
rs74041590	1.00[EUR][1000 genomes]
rs74041597	1.00[EUR][1000 genomes]
rs74041599	1.00[EUR][1000 genomes]
rs74041600	1.00[EUR][1000 genomes]
rs8012001	0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021655	1.00[EUR][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	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32547600-32571400	Weak transcription	Spleen	Spleen
2	chr14:32548000-32551800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:32548000-32555400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:32548000-32559800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:32548000-32586200	Weak transcription	Lung	lung
6	chr14:32548000-32597400	Weak transcription	Esophagus	oesophagus
7	chr14:32548200-32559800	Weak transcription	Placenta	Placenta
8	chr14:32548200-32560000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr14:32548400-32551400	Weak transcription	Stomach Mucosa	stomach
10	chr14:32548400-32554200	Enhancers	Liver	Liver
11	chr14:32548400-32559600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr14:32548400-32560800	Weak transcription	Fetal Thymus	thymus
13	chr14:32548400-32569600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:32548400-32571200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr14:32548600-32552200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr14:32548600-32555400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:32548600-32560000	Weak transcription	Primary B cells from cord blood	blood
18	chr14:32548600-32562000	Weak transcription	HUVEC	blood vessel
19	chr14:32548600-32564600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:32548600-32584000	Weak transcription	Fetal Stomach	stomach
21	chr14:32548800-32551400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr14:32548800-32552600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:32548800-32556800	Weak transcription	Brain Angular Gyrus	brain
24	chr14:32548800-32560000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr14:32548800-32560000	Weak transcription	Adipose Nuclei	Adipose
26	chr14:32548800-32562000	Weak transcription	Fetal Brain Female	brain
27	chr14:32548800-32570600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr14:32548800-32571600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:32548800-32572800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:32549000-32551400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr14:32549000-32552200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:32549000-32554400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:32549000-32555000	Enhancers	NHEK	skin
34	chr14:32549000-32555200	Weak transcription	HSMMtube	muscle
35	chr14:32549000-32555600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:32549000-32559800	Weak transcription	Primary T cells from cord blood	blood
37	chr14:32549000-32559800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:32549000-32559800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr14:32549000-32559800	Weak transcription	Fetal Kidney	kidney
40	chr14:32549000-32574000	Weak transcription	Aorta	Aorta
41	chr14:32549200-32551600	Weak transcription	Brain Germinal Matrix	brain
42	chr14:32549200-32552000	Weak transcription	Fetal Lung	lung
43	chr14:32549200-32552000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr14:32549200-32552200	Enhancers	HepG2	liver
45	chr14:32549200-32552400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:32549200-32555600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:32549200-32556400	Weak transcription	NH-A	brain
48	chr14:32549200-32560600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr14:32549200-32570800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:32549200-32571600	Weak transcription	K562	blood

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