Variant report

Variant	rs414488
Chromosome Location	chr2:152117122-152117123
allele	A/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152117023..152117744-chr2:152145873..152146526,2	MCF-7	breast:
2	chr2:152114685..152117760-chr2:152145226..152147705,4	K562	blood:
3	chr2:150442857..150445501-chr2:152115437..152118070,2	MCF-7	breast:
4	chr2:152115426..152120009-chr2:152142898..152146726,5	K562	blood:
5	chr2:152116994..152118893-chr2:152266218..152268136,2	MCF-7	breast:
6	chr2:152116678..152120470-chr2:152265032..152268454,8	MCF-7	breast:
7	chr2:152116022..152119511-chr2:152263980..152267786,5	K562	blood:
8	chr2:152114819..152117297-chr2:152137988..152139768,2	K562	blood:
9	chr2:152110500..152112739-chr2:152114755..152117569,2	K562	blood:
10	chr2:152116868..152120610-chr2:152144685..152147660,4	MCF-7	breast:
11	chr2:152112196..152114253-chr2:152116352..152117895,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000080345	Chromatin interaction
ENSG00000123609	Chromatin interaction
ENSG00000231969	Chromatin interaction
ENSG00000168288	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs289886	0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs289902	0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs289916	0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
2	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1014936	chr2:152019809-152118479	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152101600-152117200	Weak transcription	Fetal Kidney	kidney
2	chr2:152103400-152117600	Weak transcription	Gastric	stomach
3	chr2:152103800-152117600	Weak transcription	Esophagus	oesophagus
4	chr2:152104400-152117200	Weak transcription	Colonic Mucosa	Colon
5	chr2:152104600-152117200	Weak transcription	Stomach Mucosa	stomach
6	chr2:152105800-152117200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:152105800-152117200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:152106400-152117200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:152106400-152117200	Weak transcription	Brain Substantia Nigra	brain
10	chr2:152106400-152117600	Weak transcription	Left Ventricle	heart
11	chr2:152106600-152117200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:152106600-152117200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:152106600-152117200	Weak transcription	Fetal Intestine Large	intestine
14	chr2:152106600-152117400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:152108000-152117200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:152108000-152117200	Weak transcription	HSMM	muscle
17	chr2:152108400-152117200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:152109000-152117200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:152109200-152117200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:152109800-152117600	Weak transcription	Spleen	Spleen
21	chr2:152110400-152117200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:152110400-152117600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:152110400-152117600	Weak transcription	Lung	lung
24	chr2:152110600-152117200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:152110800-152117200	Weak transcription	Right Ventricle	heart
26	chr2:152111400-152117200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:152111400-152117200	Weak transcription	Aorta	Aorta
28	chr2:152111400-152117400	Weak transcription	Fetal Thymus	thymus
29	chr2:152111600-152117200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:152112000-152117200	Weak transcription	Fetal Intestine Small	intestine
31	chr2:152112400-152117200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:152113800-152117200	Weak transcription	Ovary	ovary
33	chr2:152113800-152117400	Weak transcription	Psoas Muscle	Psoas
34	chr2:152114200-152117800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:152115200-152117200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:152115200-152117200	Weak transcription	HSMMtube	muscle
37	chr2:152115200-152117200	Weak transcription	NH-A	brain
38	chr2:152115200-152117400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:152115400-152117200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:152115800-152117200	Enhancers	Primary T cells fromperipheralblood	blood
41	chr2:152115800-152117200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:152116000-152117200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr2:152116200-152117200	Enhancers	Liver	Liver
44	chr2:152116600-152117200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:152116600-152117200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:152116600-152117200	Enhancers	Fetal Muscle Trunk	muscle
47	chr2:152116600-152117200	Enhancers	Small Intestine	intestine
48	chr2:152116600-152117400	Enhancers	Placenta	Placenta
49	chr2:152116800-152117200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:152116800-152117200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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