Variant report

Variant	rs12462251
Chromosome Location	chr19:39620039-39620040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39618750..39620262-chr19:39623192..39625353,2	K562	blood:
2	chr19:39618887..39621010-chr19:39677122..39680092,2	MCF-7	breast:
3	chr19:39615259..39630637-chr19:39640467..39653924,38	MCF-7	breast:
4	chr19:39619372..39620875-chr19:39624285..39626260,2	K562	blood:
5	chr19:39617953..39620169-chr19:39796601..39798987,2	MCF-7	breast:
6	chr19:39618847..39620928-chr19:39651016..39653972,2	K562	blood:
7	chr19:39619125..39620938-chr19:39926907..39929414,2	K562	blood:
8	chr19:39619517..39621262-chr19:39687570..39690464,2	MCF-7	breast:
9	chr19:39619979..39621693-chr19:39658488..39661418,2	MCF-7	breast:
10	chr19:39452714..39453366-chr19:39619438..39620098,2	MCF-7	breast:
11	chr19:39617432..39618936-chr19:39618990..39621023,2	K562	blood:
12	chr19:39618807..39620742-chr19:39901218..39902940,2	MCF-7	breast:
13	chr19:39615078..39616937-chr19:39618172..39620698,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188505	Chromatin interaction
ENSG00000130669	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs62119541	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458571	chr19:39533754-39628050	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv579508	chr19:39533754-39628050	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1067028	chr19:39567228-39622846	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1060469	chr19:39567228-39624790	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv833829	chr19:39569681-39730777	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 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	chr19:39617000-39622400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:39617000-39630800	Weak transcription	Primary T cells from cord blood	blood
3	chr19:39617000-39635000	Weak transcription	Aorta	Aorta
4	chr19:39617200-39624800	Enhancers	Left Ventricle	heart
5	chr19:39617400-39620800	Weak transcription	Primary B cells from cord blood	blood
6	chr19:39617400-39621000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr19:39617400-39621200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr19:39617400-39659800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr19:39617600-39620200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:39617600-39622000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:39617600-39625600	Enhancers	Spleen	Spleen
12	chr19:39617600-39627600	Enhancers	Fetal Heart	heart
13	chr19:39617800-39620200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr19:39617800-39620400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:39617800-39621000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr19:39617800-39621000	Weak transcription	Psoas Muscle	Psoas
17	chr19:39617800-39622200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:39617800-39622400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr19:39617800-39623000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:39617800-39623200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:39617800-39623800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr19:39617800-39624000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:39617800-39624200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr19:39617800-39624600	Enhancers	Stomach Mucosa	stomach
25	chr19:39617800-39625000	Enhancers	Ovary	ovary
26	chr19:39617800-39625200	Enhancers	Pancreas	Pancrea
27	chr19:39617800-39627200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr19:39617800-39628600	Enhancers	Placenta	Placenta
29	chr19:39617800-39630200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr19:39617800-39641600	Weak transcription	Thymus	Thymus
31	chr19:39618000-39620200	Enhancers	Brain Substantia Nigra	brain
32	chr19:39618000-39621000	Weak transcription	Fetal Kidney	kidney
33	chr19:39618000-39621800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr19:39618000-39622200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr19:39618000-39622400	Enhancers	Small Intestine	intestine
36	chr19:39618000-39623600	Enhancers	Brain Angular Gyrus	brain
37	chr19:39618000-39624400	Enhancers	Liver	Liver
38	chr19:39618000-39624600	Enhancers	Fetal Muscle Leg	muscle
39	chr19:39618200-39620600	Enhancers	Brain Germinal Matrix	brain
40	chr19:39618200-39620600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr19:39618200-39621000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr19:39618200-39621600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr19:39618200-39621600	Weak transcription	Fetal Thymus	thymus
44	chr19:39618200-39621800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:39618200-39622000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr19:39618200-39623600	Genic enhancers	Fetal Intestine Small	intestine
47	chr19:39618200-39623600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr19:39618200-39628400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr19:39618400-39620400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:39618400-39621600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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