Variant report

Variant	rs13431302
Chromosome Location	chr2:54788916-54788917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54767756..54770528-chr2:54788177..54790066,2	MCF-7	breast:
2	chr2:54786715..54789713-chr2:54890702..54893003,2	K562	blood:
3	chr2:54749132..54757147-chr2:54784492..54789269,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228108	Chromatin interaction
ENSG00000237887	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10169013	1.00[ASN][1000 genomes]
rs10171393	1.00[ASN][1000 genomes]
rs10172671	1.00[ASN][1000 genomes]
rs10182310	1.00[ASN][1000 genomes]
rs10188548	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10189084	1.00[ASN][1000 genomes]
rs10191357	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10194488	1.00[ASN][1000 genomes]
rs10195423	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10206622	1.00[ASN][1000 genomes]
rs13391762	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13403817	1.00[ASN][1000 genomes]
rs13414727	1.00[ASN][1000 genomes]
rs13415413	1.00[ASN][1000 genomes]
rs13415949	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13423872	1.00[ASN][1000 genomes]
rs13425620	1.00[ASN][1000 genomes]
rs13426037	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13427468	1.00[ASN][1000 genomes]
rs13428524	1.00[ASN][1000 genomes]
rs17045949	1.00[ASN][1000 genomes]
rs2229505	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28496426	1.00[ASN][1000 genomes]
rs28609649	1.00[ASN][1000 genomes]
rs28660202	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28679552	1.00[ASN][1000 genomes]
rs4387841	1.00[ASN][1000 genomes]
rs6545417	1.00[ASN][1000 genomes]
rs6545426	1.00[ASN][1000 genomes]
rs6735962	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6746379	1.00[ASN][1000 genomes]
rs7340250	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73934326	1.00[ASN][1000 genomes]
rs7574433	1.00[ASN][1000 genomes]
rs9808516	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription 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	14 gene(s)	inside rSNPs	diseases
2	nsv2731	chr2:54745069-54790057	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54784800-54789000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:54784800-54789800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:54785000-54789000	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr2:54785000-54789400	Active TSS	GM12878-XiMat	blood
5	chr2:54785400-54789000	Active TSS	HMEC	breast
6	chr2:54786400-54789000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:54786400-54790200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr2:54786400-54793200	Enhancers	Fetal Heart	heart
9	chr2:54787200-54789800	Active TSS	Fetal Stomach	stomach
10	chr2:54787600-54789000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:54787600-54789200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:54787600-54791400	Enhancers	Left Ventricle	heart
13	chr2:54787600-54791400	Weak transcription	Right Ventricle	heart
14	chr2:54787600-54791400	Weak transcription	Spleen	Spleen
15	chr2:54787600-54796800	Weak transcription	Aorta	Aorta
16	chr2:54787600-54797000	Weak transcription	Gastric	stomach
17	chr2:54787800-54789000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:54787800-54789200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:54787800-54790600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:54787800-54796200	Weak transcription	Esophagus	oesophagus
21	chr2:54787800-54797200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:54788000-54789400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:54788000-54791000	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:54788000-54791200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:54788000-54796000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:54788200-54789000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:54788200-54790600	Enhancers	Fetal Lung	lung
28	chr2:54788200-54795000	Weak transcription	Brain Anterior Caudate	brain
29	chr2:54788400-54789000	Enhancers	HSMM	muscle
30	chr2:54788400-54789000	Enhancers	K562	blood
31	chr2:54788400-54789000	Enhancers	NH-A	brain
32	chr2:54788400-54789400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:54788400-54789400	Weak transcription	Fetal Brain Male	brain
34	chr2:54788400-54789600	Enhancers	Osteobl	bone
35	chr2:54788400-54789800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:54788400-54789800	Enhancers	Small Intestine	intestine
37	chr2:54788400-54790600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr2:54788400-54790600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr2:54788400-54791200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:54788400-54797600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:54788600-54789000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr2:54788600-54789000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:54788600-54789000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:54788600-54789000	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr2:54788600-54789000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr2:54788600-54789000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr2:54788600-54789000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:54788600-54789000	Active TSS	Liver	Liver
49	chr2:54788600-54789000	Weak transcription	Brain Angular Gyrus	brain
50	chr2:54788600-54789000	Enhancers	Rectal Mucosa Donor 31	rectum

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