Variant report

Variant	rs2712368
Chromosome Location	chr3:113519355-113519356
allele	A/C
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	chr3:113519305-113519358	K562	blood:	n/a	n/a
2	POLR2A	chr3:113519234-113519383	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:113516312..113519705-chr3:113519996..113523947,4	K562	blood:

Variant related genes	Relation type
ATP6V1A	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12493602	1.00[YRI][hapmap]
rs13096064	1.00[YRI][hapmap]

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	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv482804	chr3:113432431-113581672	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv829678	chr3:113446177-113633053	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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 target site	26 gene(s)	inside rSNPs	diseases
4	nsv877351	chr3:113450495-113637424	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
5	nsv1013746	chr3:113460162-113646657	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv432478	chr3:113492402-113614489	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113467200-113528600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:113469000-113519400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:113487800-113527800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:113491200-113524600	Weak transcription	Psoas Muscle	Psoas
5	chr3:113491200-113532600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:113494600-113522200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:113495200-113524800	Weak transcription	Spleen	Spleen
8	chr3:113495600-113535000	Weak transcription	Stomach Mucosa	stomach
9	chr3:113498400-113519600	Weak transcription	Aorta	Aorta
10	chr3:113499400-113531000	Weak transcription	Fetal Heart	heart
11	chr3:113502600-113531000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:113503200-113522800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:113503200-113522800	Weak transcription	NHEK	skin
14	chr3:113503400-113531600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:113503600-113531000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr3:113503600-113531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:113504400-113528200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:113504400-113531400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:113505000-113520600	Strong transcription	Fetal Intestine Large	intestine
20	chr3:113505000-113526400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:113505000-113532000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:113505000-113532000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:113505200-113530600	Strong transcription	Liver	Liver
24	chr3:113505600-113521600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:113506400-113527800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr3:113507600-113522800	Weak transcription	Esophagus	oesophagus
27	chr3:113507800-113532000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr3:113508000-113530200	Weak transcription	Colonic Mucosa	Colon
29	chr3:113508000-113531800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr3:113508200-113519600	Weak transcription	Brain Angular Gyrus	brain
31	chr3:113508400-113532000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:113508800-113522000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr3:113508800-113530800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:113509000-113524400	Weak transcription	Colon Smooth Muscle	Colon
35	chr3:113510000-113525400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:113510400-113530000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:113510600-113520600	Strong transcription	Osteobl	bone
38	chr3:113512800-113519400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:113512800-113520200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr3:113512800-113520400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr3:113512800-113520600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:113512800-113529400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:113513000-113521000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr3:113513000-113525200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr3:113513000-113531400	Strong transcription	Adipose Nuclei	Adipose
46	chr3:113513200-113520600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr3:113513200-113521200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr3:113513200-113525200	Strong transcription	Placenta	Placenta
49	chr3:113513200-113525800	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:113513400-113520600	Strong transcription	Dnd41	blood

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