Variant report

Variant	rs448420
Chromosome Location	chr6:149785802-149785803
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	chr6:149785728..149788361-chr6:149790642..149793612,2	K562	blood:

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

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

rs_ID	r²[population]
rs11155641	0.80[AFR][1000 genomes]
rs11155644	0.84[AFR][1000 genomes]
rs237003	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs237005	0.93[JPT][hapmap]
rs237009	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs237010	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs237024	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs372205	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs372238	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs384334	0.84[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs394563	0.85[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs399673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs400279	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs409099	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs409111	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs412746	1.00[YRI][hapmap]
rs412894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs415434	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs420099	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs420430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421453	0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs438852	0.85[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs444784	0.86[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs447025	0.89[ASN][1000 genomes]
rs448874	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs480870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548848	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs584916	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6922130	0.85[CEU][hapmap]
rs6942381	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv470866	chr6:149744632-149806552	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv5533	chr6:149748047-149793072	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv464076	chr6:149755695-149798835	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv604846	chr6:149755695-149798835	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149769600-149787200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:149772000-149788800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr6:149772600-149787000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:149776200-149789600	Weak transcription	Fetal Thymus	thymus
5	chr6:149776800-149802000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:149778400-149787200	Weak transcription	Spleen	Spleen
7	chr6:149780800-149793400	Weak transcription	Primary T cells from cord blood	blood
8	chr6:149781400-149787000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:149781400-149788800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:149781400-149793800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:149782200-149802000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:149783200-149787000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:149783200-149802400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:149783400-149786800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:149783400-149788400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:149783400-149789200	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr6:149783600-149786000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
18	chr6:149783800-149793400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr6:149784400-149789600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:149784600-149787400	Strong transcription	Fetal Intestine Small	intestine
21	chr6:149784600-149788200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr6:149784800-149786000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr6:149784800-149786200	Enhancers	Stomach Mucosa	stomach
24	chr6:149785000-149787000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:149785200-149786000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:149785200-149786000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:149785200-149786000	Genic enhancers	Primary T cells fromperipheralblood	blood
28	chr6:149785200-149786000	Enhancers	Colonic Mucosa	Colon
29	chr6:149785200-149786000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr6:149785200-149786000	Enhancers	Lung	lung
31	chr6:149785200-149786200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:149785200-149786200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:149785200-149786200	Enhancers	Pancreas	Pancrea
34	chr6:149785200-149786200	Enhancers	Stomach Smooth Muscle	stomach
35	chr6:149785200-149786200	Genic enhancers	GM12878-XiMat	blood
36	chr6:149785200-149786200	Enhancers	Osteobl	bone
37	chr6:149785200-149786400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr6:149785200-149792800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:149785400-149786200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr6:149785400-149786200	Enhancers	HSMMtube	muscle
41	chr6:149785600-149786400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr6:149785600-149788400	Weak transcription	HepG2	liver
43	chr6:149785800-149786000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:149785800-149786000	Enhancers	NH-A	brain
45	chr6:149785800-149787000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:149785800-149787400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr6:149785800-149788200	Enhancers	Primary B cells from cord blood	blood
48	chr6:149785800-149789600	Weak transcription	Colon Smooth Muscle	Colon
49	chr6:149785800-149789600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr6:149785800-149793400	Weak transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links