Variant report

Variant	rs13397840
Chromosome Location	chr2:148996824-148996825
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:148995742..148998637-chr2:149000873..149004003,3	MCF-7	breast:
2	chr2:148994771..148998300-chr2:149002088..149006299,3	K562	blood:
3	chr2:148996066..148998300-chr2:149002088..149004966,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10178028	0.86[ASN][1000 genomes]
rs13389636	0.86[ASN][1000 genomes]
rs13396922	0.94[ASN][1000 genomes]
rs13425695	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16828420	0.86[ASN][1000 genomes]
rs1840139	0.83[ASN][1000 genomes]
rs1982387	0.86[ASN][1000 genomes]
rs28477138	0.86[ASN][1000 genomes]
rs34521647	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4264521	0.91[EUR][1000 genomes]
rs58880256	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6713264	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs6731657	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs67576946	0.83[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	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv875276	chr2:148844369-148996824	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1004431	chr2:148859099-149054114	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148984400-149011800	Weak transcription	Gastric	stomach
2	chr2:148984800-149011800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:148985400-149011200	Weak transcription	Pancreas	Pancrea
4	chr2:148986000-149002200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:148986800-149011600	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:148987600-148997200	Weak transcription	Lung	lung
7	chr2:148989000-148997400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:148989200-149000200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:148990200-149011400	Weak transcription	Spleen	Spleen
10	chr2:148990400-148997200	Weak transcription	Brain Anterior Caudate	brain
11	chr2:148992400-148997600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:148992600-149009600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:148993200-148999400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:148993200-148999600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:148993600-148997000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr2:148993800-148997000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:148994200-149002200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:148994600-148998400	Weak transcription	Fetal Brain Female	brain
19	chr2:148994800-148997600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:148994800-148998000	Weak transcription	Thymus	Thymus
21	chr2:148994800-149016600	Weak transcription	Fetal Brain Male	brain
22	chr2:148995000-148997600	Strong transcription	Fetal Lung	lung
23	chr2:148995000-148998600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:148995000-148998800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr2:148995000-149001400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:148995000-149002000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:148995000-149002000	Weak transcription	NHDF-Ad	bronchial
28	chr2:148995000-149019800	Weak transcription	Aorta	Aorta
29	chr2:148995000-149030800	Weak transcription	Left Ventricle	heart
30	chr2:148995200-148997000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:148995200-148997200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:148995200-148997200	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:148995200-148998000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:148995200-148998200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:148995200-148998600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:148995200-149011000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:148995200-149011400	Weak transcription	Placenta	Placenta
38	chr2:148995400-148997000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:148995400-148997200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:148995400-148997200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:148995400-148997200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:148995400-148997200	Weak transcription	Fetal Stomach	stomach
43	chr2:148995400-148997200	Weak transcription	Ovary	ovary
44	chr2:148995400-148997400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:148995400-148997800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:148995400-148998000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:148995400-148998200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:148995400-148998600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:148995400-148999000	Weak transcription	Primary B cells from cord blood	blood
50	chr2:148995400-148999000	Weak transcription	Fetal Thymus	thymus

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