Variant report

Variant	rs12184494
Chromosome Location	chr12:104187732-104187733
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104186877..104189949-chr12:104233437..104236104,3	MCF-7	breast:
2	chr12:104186150..104188258-chr12:104233575..104235121,2	K562	blood:
3	chr12:104178670..104180428-chr12:104186156..104188204,2	K562	blood:
4	chr12:104183990..104193430-chr12:104193641..104204611,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257327	Chromatin interaction
ENSG00000111696	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10219726	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs12367528	1.00[CHB][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899480	chr12:104092996-104211440	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899481	chr12:104092996-104213731	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899482	chr12:104092996-104218956	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv899483	chr12:104117462-104218956	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv899487	chr12:104118587-104218956	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv899489	chr12:104144835-104218956	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv899490	chr12:104149022-104218956	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104157400-104191200	Weak transcription	HUVEC	blood vessel
2	chr12:104163600-104204200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:104165800-104193400	Weak transcription	Fetal Lung	lung
4	chr12:104166400-104188400	Weak transcription	Fetal Thymus	thymus
5	chr12:104167200-104199800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:104168000-104190800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:104169000-104197800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:104171200-104193600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:104171400-104188200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:104171600-104194000	Weak transcription	Brain Substantia Nigra	brain
11	chr12:104171800-104216000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:104172400-104191400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:104173800-104208800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:104174000-104194200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:104175200-104190000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:104177800-104207600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:104178400-104188400	Weak transcription	Brain Anterior Caudate	brain
18	chr12:104178600-104193400	Weak transcription	Left Ventricle	heart
19	chr12:104178800-104194000	Weak transcription	Brain Angular Gyrus	brain
20	chr12:104178800-104194200	Weak transcription	Esophagus	oesophagus
21	chr12:104179000-104188000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:104179000-104188400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:104179000-104188600	Weak transcription	Lung	lung
24	chr12:104179000-104190600	Weak transcription	Gastric	stomach
25	chr12:104179000-104193200	Weak transcription	Spleen	Spleen
26	chr12:104179000-104193600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:104179200-104188200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:104179400-104188400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:104179400-104191400	Weak transcription	Hela-S3	cervix
30	chr12:104179400-104193800	Weak transcription	Fetal Kidney	kidney
31	chr12:104179800-104192800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:104179800-104193800	Weak transcription	NHDF-Ad	bronchial
33	chr12:104180000-104188600	Weak transcription	HepG2	liver
34	chr12:104183600-104192800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:104183800-104193600	Weak transcription	Stomach Mucosa	stomach
36	chr12:104184200-104187800	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:104184800-104188600	Strong transcription	Fetal Stomach	stomach
38	chr12:104184800-104190400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:104184800-104192600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:104184800-104193400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:104185000-104188200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:104185000-104189200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:104185000-104190800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr12:104185000-104190800	Strong transcription	Fetal Muscle Leg	muscle
45	chr12:104185000-104191200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr12:104185000-104191200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:104185000-104191200	Strong transcription	Aorta	Aorta
48	chr12:104185200-104187800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:104185200-104189000	Enhancers	Brain Germinal Matrix	brain
50	chr12:104185200-104189200	Strong transcription	HUES6 Cell Line	embryonic stem cell

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