Variant report

Variant	rs57177343
Chromosome Location	chr12:104905214-104905215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:104905045-104905245	HUVEC	blood vessel:	n/a	n/a
2	IRF1	chr12:104905014-104905614	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000258111	TF binding region

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

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

rs_ID	r²[population]
rs56192201	0.92[AFR][1000 genomes]
rs59472543	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60868797	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977451	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];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	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	chr12:104894800-104913000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:104897400-104905600	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:104897600-104907800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:104898800-104905600	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr12:104900000-104907200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:104900200-104905400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:104901000-104905600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr12:104901000-104906400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:104901000-104913200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:104901200-104907800	Weak transcription	Right Ventricle	heart
11	chr12:104901200-104919200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:104901400-104906400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr12:104901400-104907200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:104901400-104907800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:104901600-104906600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:104901800-104906600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:104901800-104907400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:104901800-104909400	Weak transcription	Pancreas	Pancrea
19	chr12:104901800-104920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:104902000-104906600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:104902000-104907000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:104902000-104907200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:104902000-104915600	Weak transcription	Fetal Brain Male	brain
24	chr12:104902200-104906600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:104902200-104906600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:104902200-104906600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:104902600-104905600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:104903200-104905600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:104903200-104905600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr12:104903200-104906600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:104903400-104905400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr12:104903400-104905600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr12:104903400-104905800	Enhancers	Primary hematopoietic stem cells	blood
34	chr12:104903600-104905400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:104903600-104905600	Enhancers	Colon Smooth Muscle	Colon
36	chr12:104903800-104905400	Enhancers	Right Atrium	heart
37	chr12:104903800-104905600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:104903800-104905600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr12:104903800-104905600	Enhancers	Gastric	stomach
40	chr12:104903800-104905800	Enhancers	Rectal Smooth Muscle	rectum
41	chr12:104903800-104907200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:104904000-104905400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr12:104904000-104905600	Enhancers	HUVEC	blood vessel
44	chr12:104904200-104905400	Weak transcription	Fetal Stomach	stomach
45	chr12:104904200-104909200	Weak transcription	Thymus	Thymus
46	chr12:104904400-104906600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:104904400-104907200	Weak transcription	Brain Germinal Matrix	brain
48	chr12:104904400-104907200	Weak transcription	Dnd41	blood
49	chr12:104904400-104907600	Weak transcription	Lung	lung
50	chr12:104904400-104910600	Weak transcription	Brain Inferior Temporal Lobe	brain

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