Variant report

Variant	rs6433816
Chromosome Location	chr2:180809317-180809318
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180808241..180810462-chr2:180810582..180812457,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12465592	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12468986	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12693214	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12693215	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16867131	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1904850	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2367990	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs259810	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs259811	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2678936	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3843323	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3845701	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3856415	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56401468	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6433818	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6433820	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6433821	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6722147	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6727890	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6733426	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6744281	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6759271	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72958863	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960660	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72960664	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72960701	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72962517	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72962575	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs818661	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9288045	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv521134	chr2:180746041-180848488	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1006598	chr2:180766983-180923051	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv531444	chr2:180796233-181434590	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180783800-180811800	Weak transcription	Left Ventricle	heart
2	chr2:180792000-180816400	Weak transcription	Aorta	Aorta
3	chr2:180793200-180809400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:180794800-180810000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:180795800-180809400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:180796000-180810600	Weak transcription	Fetal Intestine Small	intestine
7	chr2:180796400-180809800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:180796400-180815000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:180796600-180809800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:180796600-180810200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:180797000-180810600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:180797000-180815800	Weak transcription	Right Ventricle	heart
13	chr2:180797400-180809600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:180797400-180815200	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:180797800-180809800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:180797800-180811400	Weak transcription	Fetal Lung	lung
17	chr2:180797800-180818200	Weak transcription	Esophagus	oesophagus
18	chr2:180798000-180809400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:180798000-180809800	Weak transcription	Fetal Intestine Large	intestine
20	chr2:180798000-180813800	Weak transcription	Brain Angular Gyrus	brain
21	chr2:180798000-180814200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:180798000-180816200	Weak transcription	Pancreas	Pancrea
23	chr2:180798200-180815000	Weak transcription	Brain Substantia Nigra	brain
24	chr2:180798600-180816000	Weak transcription	Fetal Heart	heart
25	chr2:180799600-180813400	Weak transcription	HMEC	breast
26	chr2:180799800-180809800	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:180800000-180812800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:180800200-180816200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:180800800-180809800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:180800800-180809800	Weak transcription	HSMMtube	muscle
31	chr2:180801000-180809400	Weak transcription	Osteobl	bone
32	chr2:180801000-180813600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:180801000-180836400	Weak transcription	Psoas Muscle	Psoas
34	chr2:180802000-180811600	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:180802000-180813400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:180802000-180814400	Weak transcription	Fetal Brain Female	brain
37	chr2:180803000-180809400	Weak transcription	Fetal Kidney	kidney
38	chr2:180803400-180843600	Weak transcription	Fetal Brain Male	brain
39	chr2:180803600-180810200	Weak transcription	GM12878-XiMat	blood
40	chr2:180804000-180815000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:180804200-180816200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:180804400-180811800	Weak transcription	Primary T cells from cord blood	blood
43	chr2:180805000-180816000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:180805600-180812600	Weak transcription	NHEK	skin
45	chr2:180805600-180831800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:180806000-180809600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:180806600-180813800	Weak transcription	Brain Germinal Matrix	brain
48	chr2:180807000-180809400	Weak transcription	NHLF	lung
49	chr2:180807000-180809600	Weak transcription	K562	blood
50	chr2:180807000-180819400	Strong transcription	Primary B cells from cord blood	blood

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