Variant report

Variant	rs12303997
Chromosome Location	chr12:104901273-104901274
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104889078..104893153-chr12:104897198..104902053,5	K562	blood:
2	chr12:104889682..104892508-chr12:104899984..104902053,3	K562	blood:
3	chr12:104900996..104904283-chr12:104904979..104908368,3	K562	blood:
4	chr12:104882770..104885599-chr12:104898967..104901298,2	K562	blood:
5	chr12:104899181..104901734-chr12:104930308..104932411,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258111	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12301935	1.00[AMR][1000 genomes]
rs12314344	1.00[AMR][1000 genomes]
rs73384135	1.00[AMR][1000 genomes]
rs73384139	1.00[AMR][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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104875400-104904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:104887200-104903000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:104890000-104903800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:104893000-104904400	Genic enhancers	Dnd41	blood
5	chr12:104894400-104903800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:104894800-104913000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:104895600-104901400	Weak transcription	Primary T cells from cord blood	blood
8	chr12:104895600-104904000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:104897000-104901600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:104897400-104905600	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:104897600-104901800	Enhancers	Fetal Heart	heart
12	chr12:104897600-104903600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:104897600-104903800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:104897600-104907800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:104897800-104901600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:104898000-104901800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:104898000-104903200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:104898200-104901400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:104898400-104901400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:104898400-104905000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:104898800-104905200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr12:104898800-104905600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr12:104899400-104901600	Weak transcription	K562	blood
24	chr12:104899600-104901800	Enhancers	Fetal Brain Female	brain
25	chr12:104899600-104903600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:104899600-104903800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:104899600-104904000	Weak transcription	A549	lung
28	chr12:104899800-104901800	Enhancers	Pancreas	Pancrea
29	chr12:104899800-104904000	Weak transcription	HSMMtube	muscle
30	chr12:104899800-104904000	Weak transcription	HUVEC	blood vessel
31	chr12:104900000-104901600	Genic enhancers	Fetal Thymus	thymus
32	chr12:104900000-104902200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr12:104900000-104902200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr12:104900000-104903000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr12:104900000-104903600	Weak transcription	Brain Anterior Caudate	brain
36	chr12:104900000-104907200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr12:104900200-104901400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr12:104900200-104901400	Enhancers	Left Ventricle	heart
39	chr12:104900200-104901800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:104900200-104901800	Bivalent Enhancer	Fetal Stomach	stomach
41	chr12:104900200-104902000	Enhancers	Right Atrium	heart
42	chr12:104900200-104902200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:104900200-104902800	Enhancers	Fetal Lung	lung
44	chr12:104900200-104904600	Enhancers	Primary T cells fromperipheralblood	blood
45	chr12:104900200-104905400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr12:104900400-104901400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:104900400-104901600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr12:104900400-104902000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr12:104900400-104902000	Enhancers	Primary hematopoietic stem cells	blood
50	chr12:104900400-104902000	Enhancers	Fetal Brain Male	brain

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