Variant report

Variant	rs13388142
Chromosome Location	chr2:233994928-233994929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:14580552..14582142-chr2:233993589..233995498,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10176163	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179137	0.90[EUR][1000 genomes]
rs10202748	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10754947	0.82[AMR][1000 genomes]
rs12694926	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694927	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694928	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694929	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987520	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13011232	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13013293	0.86[EUR][1000 genomes]
rs13021947	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022011	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28429042	0.81[AMR][1000 genomes]
rs28655385	0.80[AMR][1000 genomes]
rs35349669	0.80[AMR][1000 genomes]
rs62192871	0.90[EUR][1000 genomes]
rs62192872	0.89[EUR][1000 genomes]
rs62192874	0.82[AMR][1000 genomes]
rs6431237	0.82[AMR][1000 genomes]
rs6431239	0.82[AMR][1000 genomes]
rs6715767	0.82[AMR][1000 genomes]
rs67498812	0.80[AMR][1000 genomes]
rs7419666	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7558417	0.82[AMR][1000 genomes]
rs7568389	0.81[AMR][1000 genomes]
rs7570320	0.82[AMR][1000 genomes]
rs7577360	0.80[AMR][1000 genomes]
rs7581787	0.80[AMR][1000 genomes]
rs7589369	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597516	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597763	0.81[AMR][1000 genomes]
rs7605743	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233969800-233996800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:233982200-233997000	Weak transcription	Right Atrium	heart
3	chr2:233982400-233995000	Weak transcription	Colonic Mucosa	Colon
4	chr2:233982600-233995000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:233984000-234003600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:233984800-233996400	Weak transcription	Brain Anterior Caudate	brain
7	chr2:233986600-234001200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:233986600-234001600	Strong transcription	Primary hematopoietic stem cells	blood
9	chr2:233986600-234001800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:233987400-233996400	Weak transcription	Fetal Brain Female	brain
11	chr2:233988600-234003400	Weak transcription	HUVEC	blood vessel
12	chr2:233989400-234000400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:233989800-234003400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr2:233990400-234002000	Strong transcription	Primary B cells from cord blood	blood
15	chr2:233990800-233995200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:233990800-234001600	Weak transcription	Gastric	stomach
17	chr2:233991000-234002200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:233991200-234002800	Weak transcription	Left Ventricle	heart
19	chr2:233992000-234000000	Weak transcription	Liver	Liver
20	chr2:233992000-234002600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:233992200-233995000	Weak transcription	Adipose Nuclei	Adipose
22	chr2:233992400-233995000	Weak transcription	HepG2	liver
23	chr2:233992600-233997600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:233992800-233995400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
25	chr2:233993400-233995200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr2:233993600-233995000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:233993600-233995200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:233993600-233995200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr2:233993600-233995200	Genic enhancers	Fetal Thymus	thymus
30	chr2:233993600-233995200	Genic enhancers	Thymus	Thymus
31	chr2:233993600-233995400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:233993600-233995400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:233993600-233995400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:233993600-233995400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:233993600-233995600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:233993600-233995600	Genic enhancers	Primary T cells fromperipheralblood	blood
37	chr2:233993600-233995600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:233994000-233995200	Genic enhancers	Primary B cells from peripheral blood	blood
39	chr2:233994000-233995200	Genic enhancers	Primary T cells from cord blood	blood
40	chr2:233994000-233995200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr2:233994000-233999600	Strong transcription	Dnd41	blood
42	chr2:233994200-233995200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
43	chr2:233994200-233995400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:233994200-234002800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:233994400-233995000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:233994400-233995000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:233994400-233995000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:233994400-233995200	Weak transcription	Fetal Brain Male	brain
49	chr2:233994400-233995600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:233994400-233996000	Strong transcription	Spleen	Spleen

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