Variant report

Variant	rs2232209
Chromosome Location	chr12:50503159-50503160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr12:50502880-50507261	SK-N-SH	brain:	n/a	n/a
2	RFX5	chr12:50503133-50506733	IMR90	lung:	n/a	n/a
3	HCFC1	chr12:50502851-50506900	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50475972..50484033-chr12:50500850..50507517,14	K562	blood:
2	chr12:50491501..50494072-chr12:50502085..50505008,3	K562	blood:
3	chr12:50478595..50483647-chr12:50502911..50507517,7	K562	blood:
4	chr12:50467168..50469530-chr12:50502079..50503763,2	MCF-7	breast:
5	chr12:50499334..50507442-chr12:50559441..50562987,11	K562	blood:

No data

Variant related genes	Relation type
COX14	TF binding region
ENSG00000272368	TF binding region
ENSG00000066117	Chromatin interaction
ENSG00000110881	Chromatin interaction
ENSG00000139624	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17119741	1.00[EUR][1000 genomes]
rs17124532	1.00[EUR][1000 genomes]
rs297903	1.00[EUR][1000 genomes]
rs297904	1.00[EUR][1000 genomes]
rs297908	1.00[EUR][1000 genomes]
rs297912	1.00[EUR][1000 genomes]
rs297915	1.00[EUR][1000 genomes]
rs364895	1.00[EUR][1000 genomes]
rs440721	1.00[EUR][1000 genomes]
rs487193	1.00[EUR][1000 genomes]
rs55853170	1.00[EUR][1000 genomes]
rs57423894	1.00[EUR][1000 genomes]
rs726044	1.00[EUR][1000 genomes]
rs7304815	1.00[EUR][1000 genomes]
rs74089213	1.00[EUR][1000 genomes]
rs74091125	1.00[EUR][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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv558840	chr12:50449976-50523964	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50490600-50504200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:50492200-50504400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:50492400-50504800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:50492600-50504200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:50492600-50504600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:50493600-50504400	Weak transcription	Small Intestine	intestine
7	chr12:50494000-50503200	Weak transcription	GM12878-XiMat	blood
8	chr12:50494000-50503400	Weak transcription	Aorta	Aorta
9	chr12:50494000-50503600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:50494000-50504200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:50494000-50504400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:50494000-50505200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:50494800-50503400	Weak transcription	NHDF-Ad	bronchial
14	chr12:50494800-50505000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:50495000-50504000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:50495000-50504800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:50495600-50504000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:50495600-50504200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:50495800-50505200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:50496000-50503400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:50496000-50504200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:50496200-50503800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:50496200-50504200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:50496200-50504800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:50496400-50504600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:50496600-50503800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:50496600-50503800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:50496600-50504400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:50496600-50504600	Weak transcription	Primary T cells from cord blood	blood
30	chr12:50496800-50503400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:50496800-50504800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:50498000-50503400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:50498000-50503800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:50498200-50503200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:50498200-50503400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:50498200-50503600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:50498400-50503200	Weak transcription	Spleen	Spleen
38	chr12:50498400-50503800	Weak transcription	HSMM	muscle
39	chr12:50498400-50503800	Weak transcription	NHEK	skin
40	chr12:50498600-50503200	Weak transcription	Lung	lung
41	chr12:50498600-50504000	Weak transcription	HSMMtube	muscle
42	chr12:50498800-50503600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:50499000-50503200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:50499000-50503800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:50499200-50504000	Weak transcription	Gastric	stomach
46	chr12:50499400-50503200	Weak transcription	Right Atrium	heart
47	chr12:50499400-50503600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr12:50499400-50504600	Weak transcription	Colon Smooth Muscle	Colon
49	chr12:50499600-50503200	Weak transcription	Fetal Thymus	thymus
50	chr12:50499600-50503400	Weak transcription	Brain Anterior Caudate	brain

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