Variant report

Variant	rs6948467
Chromosome Location	chr7:27869782-27869783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10214930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10230973	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs10241783	0.93[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs10250333	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10268051	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17155876	0.99[ASN][1000 genomes]
rs2057998	0.93[ASN][1000 genomes]
rs2074580	0.99[ASN][1000 genomes]
rs2237338	0.89[JPT][hapmap]
rs2391485	0.93[ASN][1000 genomes]
rs28521509	0.93[ASN][1000 genomes]
rs4481475	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4719906	0.93[ASN][1000 genomes]
rs4722740	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs55837822	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6462050	1.00[ASN][1000 genomes]
rs6462051	1.00[ASN][1000 genomes]
rs6970578	1.00[ASN][1000 genomes]
rs7800116	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7807738	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv5677	chr7:27839504-27884505	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6948467	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:27798600-27874000	Weak transcription	Brain Angular Gyrus	brain
3	chr7:27806000-27882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:27806400-27878600	Weak transcription	Right Ventricle	heart
5	chr7:27815600-27874000	Weak transcription	Pancreas	Pancrea
6	chr7:27823800-27878000	Weak transcription	Spleen	Spleen
7	chr7:27824200-27876800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:27825600-27874000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:27826000-27870000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:27827000-27881800	Weak transcription	Small Intestine	intestine
11	chr7:27827600-27878400	Weak transcription	Fetal Kidney	kidney
12	chr7:27834400-27873600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:27835200-27878200	Weak transcription	Gastric	stomach
14	chr7:27836400-27878000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:27836400-27882200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:27837000-27873800	Weak transcription	Psoas Muscle	Psoas
17	chr7:27840000-27880600	Weak transcription	Hela-S3	cervix
18	chr7:27842400-27877800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:27843600-27877000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:27847600-27885200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr7:27848400-27871600	Weak transcription	HMEC	breast
22	chr7:27848400-27873400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:27848600-27871000	Weak transcription	K562	blood
24	chr7:27849200-27873400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:27850200-27881400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:27854200-27882200	Weak transcription	Brain Substantia Nigra	brain
27	chr7:27856000-27882200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:27856600-27874000	Weak transcription	Fetal Stomach	stomach
29	chr7:27856800-27871800	Weak transcription	NH-A	brain
30	chr7:27856800-27873600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:27856800-27874000	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:27856800-27874200	Weak transcription	GM12878-XiMat	blood
33	chr7:27857200-27875600	Weak transcription	NHEK	skin
34	chr7:27857200-27877800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:27857800-27871200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:27858200-27882600	Weak transcription	Esophagus	oesophagus
37	chr7:27858400-27871200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:27858400-27873400	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:27858400-27879600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:27858600-27880000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:27858800-27879800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr7:27858800-27880200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr7:27859200-27876000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:27859400-27870800	Weak transcription	Fetal Lung	lung
45	chr7:27859400-27872000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:27859600-27872400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:27859800-27879400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:27860000-27881800	Weak transcription	Colonic Mucosa	Colon
49	chr7:27861400-27880800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr7:27861800-27877400	Weak transcription	Stomach Mucosa	stomach

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