Variant report

Variant	rs74083751
Chromosome Location	chr12:46780551-46780552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46495435..46496952-chr12:46778066..46780745,2	MCF-7	breast:
2	chr12:46778629..46780721-chr12:46796448..46799296,3	K562	blood:
3	chr12:46778278..46780739-chr12:46799465..46801687,2	K562	blood:
4	chr12:46660942..46665525-chr12:46775819..46780739,12	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC38A2-1	chr12:46780551-46780826	NONHSAT027862

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11830080	1.00[AMR][1000 genomes]
rs11830086	1.00[AMR][1000 genomes]
rs11837634	1.00[AMR][1000 genomes]
rs17096996	1.00[AMR][1000 genomes]
rs2085682	1.00[AMR][1000 genomes]
rs2408578	1.00[AMR][1000 genomes]
rs55649919	1.00[AMR][1000 genomes]
rs55698768	1.00[AMR][1000 genomes]
rs56160202	1.00[AMR][1000 genomes]
rs59451063	1.00[AMR][1000 genomes]
rs61351787	1.00[AMR][1000 genomes]
rs7136748	1.00[AMR][1000 genomes]
rs74081912	1.00[AMR][1000 genomes]
rs74082033	1.00[AMR][1000 genomes]
rs74082237	1.00[AMR][1000 genomes]
rs74082263	1.00[AMR][1000 genomes]
rs74082274	1.00[AMR][1000 genomes]
rs74082433	1.00[AMR][1000 genomes]
rs74083758	1.00[AMR][1000 genomes]
rs74085404	1.00[AMR][1000 genomes]
rs74085421	1.00[AMR][1000 genomes]
rs74085432	1.00[AMR][1000 genomes]
rs74085442	1.00[AMR][1000 genomes]
rs7975472	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46778000-46781200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr12:46778200-46784800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:46778400-46780600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr12:46778400-46780600	Enhancers	HSMMtube	muscle
5	chr12:46778400-46780800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr12:46778400-46780800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:46778400-46780800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:46778400-46781000	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:46778400-46781400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:46778400-46781400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:46778400-46781600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:46778400-46781600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:46778400-46781600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:46778400-46781600	Weak transcription	Colonic Mucosa	Colon
15	chr12:46778400-46781600	Enhancers	Fetal Stomach	stomach
16	chr12:46778400-46782200	Enhancers	Colon Smooth Muscle	Colon
17	chr12:46778400-46782800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:46778400-46782800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr12:46778400-46783400	Enhancers	Fetal Heart	heart
20	chr12:46778400-46784200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:46778400-46786800	Enhancers	NHDF-Ad	bronchial
22	chr12:46778600-46780600	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:46778600-46780800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:46778600-46780800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:46778600-46780800	Enhancers	Rectal Smooth Muscle	rectum
26	chr12:46778600-46780800	Enhancers	HSMM	muscle
27	chr12:46778600-46781000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:46778600-46781000	Enhancers	Fetal Intestine Large	intestine
29	chr12:46778600-46781200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:46778600-46781600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:46778600-46781800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:46778600-46782000	Enhancers	Fetal Kidney	kidney
33	chr12:46778600-46782400	Enhancers	Dnd41	blood
34	chr12:46778600-46783600	Enhancers	HMEC	breast
35	chr12:46778600-46784200	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr12:46778600-46785400	Enhancers	Adipose Nuclei	Adipose
37	chr12:46778600-46787000	Enhancers	Fetal Lung	lung
38	chr12:46778800-46780600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:46778800-46780800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:46778800-46781000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:46778800-46781600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:46778800-46784000	Enhancers	Duodenum Mucosa	Duodenum
43	chr12:46778800-46797200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:46779000-46780800	Enhancers	Primary T cells from cord blood	blood
45	chr12:46779000-46780800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr12:46779000-46781000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr12:46779200-46780600	Enhancers	Brain Substantia Nigra	brain
48	chr12:46779200-46780800	Enhancers	Stomach Mucosa	stomach
49	chr12:46779200-46783400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:46779400-46780800	Weak transcription	Thymus	Thymus

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