Variant report

Variant	rs3811099
Chromosome Location	chr6:144843858-144843859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144830436..144832615-chr6:144843234..144845107,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1005974	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10434891	0.82[JPT][hapmap]
rs11155357	0.87[ASN][1000 genomes]
rs11155361	0.86[CEU][hapmap]
rs12196553	0.82[JPT][hapmap]
rs12204372	0.94[ASN][1000 genomes]
rs12214126	0.91[ASN][1000 genomes]
rs13191597	0.94[CEU][hapmap]
rs13193448	0.93[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs13195928	0.94[CEU][hapmap]
rs13198102	0.89[ASN][1000 genomes]
rs13201946	0.82[ASN][1000 genomes]
rs13203229	0.93[CEU][hapmap]
rs13203387	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13205040	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13207331	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1534437	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1554814	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1590055	0.82[ASN][1000 genomes]
rs17793810	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1830271	0.93[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1918744	0.93[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs1918746	0.94[CEU][hapmap]
rs1918747	0.94[CEU][hapmap]
rs1918748	0.94[CEU][hapmap]
rs2178128	0.94[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs34095417	0.99[ASN][1000 genomes]
rs34504312	0.82[ASN][1000 genomes]
rs34571592	0.82[ASN][1000 genomes]
rs35866755	0.90[ASN][1000 genomes]
rs35904953	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3924656	0.94[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs3924657	0.94[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs4075776	0.98[ASN][1000 genomes]
rs4146297	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4401687	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4438980	0.94[CEU][hapmap]
rs56158631	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs66905872	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6908795	0.94[CEU][hapmap]
rs6915390	0.94[CEU][hapmap]
rs6918394	0.94[CEU][hapmap]
rs6920388	0.94[CEU][hapmap]
rs6938409	0.94[CEU][hapmap]
rs6938455	0.93[CEU][hapmap]
rs6938776	0.82[ASN][1000 genomes]
rs73001731	0.89[ASN][1000 genomes]
rs73005509	0.82[ASN][1000 genomes]
rs7739143	0.82[JPT][hapmap]
rs7740593	0.94[ASN][1000 genomes]
rs7753246	0.82[JPT][hapmap]
rs9376829	0.84[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs9390177	0.93[CEU][hapmap]
rs9390179	0.82[ASN][1000 genomes]
rs9390180	0.93[JPT][hapmap]
rs9403565	0.94[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap]
rs9403566	0.82[ASN][1000 genomes]
rs9403569	0.93[CEU][hapmap]
rs9497023	0.94[CEU][hapmap];0.94[JPT][hapmap]
rs952050	0.93[CEU][hapmap]
rs952051	0.94[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144795800-144849800	Weak transcription	HMEC	breast
2	chr6:144803400-144869800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:144807400-144904000	Weak transcription	Brain Substantia Nigra	brain
4	chr6:144812400-144844800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:144812400-144881000	Weak transcription	Stomach Mucosa	stomach
6	chr6:144812600-144849600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:144812600-144849600	Weak transcription	NH-A	brain
8	chr6:144812600-144869800	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:144813400-144850000	Weak transcription	Colonic Mucosa	Colon
10	chr6:144815000-144855400	Weak transcription	Psoas Muscle	Psoas
11	chr6:144815200-144881000	Weak transcription	NHEK	skin
12	chr6:144816600-144881400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:144821000-144844200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:144821200-144850000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:144821200-144861000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:144827200-144857200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr6:144829000-144849800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:144829200-144849600	Weak transcription	Right Ventricle	heart
19	chr6:144829200-144849800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:144829600-144849800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:144829800-144849200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:144829800-144849600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:144829800-144849600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr6:144829800-144849600	Weak transcription	Spleen	Spleen
25	chr6:144829800-144849800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:144829800-144850000	Weak transcription	Esophagus	oesophagus
27	chr6:144829800-144854200	Weak transcription	Gastric	stomach
28	chr6:144829800-144863800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr6:144831400-144849200	Weak transcription	Fetal Heart	heart
30	chr6:144831400-144879000	Strong transcription	Primary B cells from cord blood	blood
31	chr6:144831600-144853200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr6:144831800-144857000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr6:144832000-144844800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:144832200-144856800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr6:144832400-144862200	Weak transcription	Small Intestine	intestine
36	chr6:144833400-144845600	Strong transcription	Fetal Thymus	thymus
37	chr6:144833400-144849600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:144833800-144846200	Strong transcription	HepG2	liver
39	chr6:144833800-144857000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr6:144833800-144857200	Strong transcription	Primary T cells from cord blood	blood
41	chr6:144833800-144868200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr6:144834000-144846600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:144834200-144844000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:144834600-144849600	Weak transcription	NHLF	lung
45	chr6:144834800-144848400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:144835000-144846000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:144835000-144856400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:144835800-144849600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:144836000-144849800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr6:144836200-144849600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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