Variant report

Variant	rs2391485
Chromosome Location	chr7:27793139-27793140
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	chr7:27779032..27781221-chr7:27791836..27793708,2	K562	blood:
2	chr7:27793093..27795415-chr7:27795434..27796969,2	K562	blood:

Variant related genes	Relation type
ENSG00000106052	Chromatin interaction
ENSG00000229893	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10214930	1.00[ASN][1000 genomes]
rs10230973	1.00[ASN][1000 genomes]
rs10241783	0.87[ASN][1000 genomes]
rs10250333	1.00[ASN][1000 genomes]
rs10268051	1.00[ASN][1000 genomes]
rs17155876	0.92[ASN][1000 genomes]
rs2057998	1.00[ASN][1000 genomes]
rs2074580	0.92[ASN][1000 genomes]
rs28521509	1.00[ASN][1000 genomes]
rs4481475	1.00[ASN][1000 genomes]
rs4719906	1.00[ASN][1000 genomes]
rs4722740	0.97[ASN][1000 genomes]
rs55837822	0.89[ASN][1000 genomes]
rs6462050	0.93[ASN][1000 genomes]
rs6462051	0.93[ASN][1000 genomes]
rs6948467	0.93[ASN][1000 genomes]
rs6970578	0.93[ASN][1000 genomes]
rs7800116	0.94[ASN][1000 genomes]
rs7807738	0.96[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2391485	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27780800-27796400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:27780800-27805600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:27780800-27810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:27780800-27815200	Weak transcription	Gastric	stomach
5	chr7:27781000-27800200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
7	chr7:27781400-27799600	Weak transcription	Fetal Stomach	stomach
8	chr7:27781400-27803200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:27781400-27812800	Weak transcription	Brain Germinal Matrix	brain
10	chr7:27784800-27799200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:27784800-27801000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:27784800-27834000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:27785000-27793200	Weak transcription	Fetal Heart	heart
15	chr7:27785000-27805600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:27785000-27806200	Weak transcription	Spleen	Spleen
17	chr7:27785000-27825000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:27785200-27809800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:27787000-27804200	Weak transcription	Fetal Intestine Small	intestine
20	chr7:27787400-27799200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:27787600-27793600	Weak transcription	Stomach Mucosa	stomach
22	chr7:27787600-27805600	Weak transcription	Pancreas	Pancrea
23	chr7:27787600-27825000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:27787800-27793400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:27787800-27793800	Strong transcription	Primary B cells from cord blood	blood
26	chr7:27787800-27826600	Weak transcription	Small Intestine	intestine
27	chr7:27788200-27793200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr7:27788200-27793800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:27788200-27793800	Strong transcription	Placenta	Placenta
30	chr7:27788200-27794000	Strong transcription	Osteobl	bone
31	chr7:27788200-27795400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:27788200-27798800	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:27788200-27799400	Strong transcription	Dnd41	blood
34	chr7:27788200-27800400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr7:27788200-27801600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:27788200-27801800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:27788200-27801800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:27788200-27802200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr7:27788400-27793800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:27788400-27793800	Strong transcription	Liver	Liver
41	chr7:27788400-27801800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:27789000-27793200	Strong transcription	Fetal Thymus	thymus
43	chr7:27789000-27800800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:27789000-27801200	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:27789400-27793800	Strong transcription	Primary T cells from cord blood	blood
46	chr7:27789600-27811000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr7:27789800-27805400	Weak transcription	Esophagus	oesophagus
48	chr7:27790200-27815200	Weak transcription	Psoas Muscle	Psoas
49	chr7:27790400-27793800	Strong transcription	Primary hematopoietic stem cells	blood
50	chr7:27790600-27795600	Weak transcription	NH-A	brain

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