Variant report

Variant	rs1781419
Chromosome Location	chr1:151747799-151747800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151734673..151739235-chr1:151743434..151748412,7	K562	blood:
2	chr1:151747348..151750868-chr1:151751909..151754177,3	MCF-7	breast:
3	chr1:151747278..151749965-chr1:151750344..151752531,2	K562	blood:
4	chr1:151747330..151748912-chr1:151773783..151775986,2	MCF-7	breast:
5	chr1:151747278..151749965-chr1:151750344..151752531,3	K562	blood:
6	chr1:151743016..151748388-chr1:151755339..151760990,6	MCF-7	breast:
7	chr1:151747349..151749226-chr1:151752622..151754895,2	K562	blood:
8	chr1:151747349..151750061-chr1:151752622..151754355,2	K562	blood:
9	chr1:151747136..151750558-chr1:151761891..151764421,4	K562	blood:
10	chr1:151741435..151743883-chr1:151746073..151749758,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182134	Chromatin interaction
ENSG00000232937	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000249602	Chromatin interaction
ENSG00000143450	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10888435	0.83[CEU][hapmap];0.84[JPT][hapmap];0.93[EUR][1000 genomes]
rs11204885	0.84[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11204887	0.94[EUR][1000 genomes]
rs11204888	0.94[EUR][1000 genomes]
rs12066445	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12073999	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12409493	0.88[CEU][hapmap];0.81[JPT][hapmap];0.93[EUR][1000 genomes]
rs12567867	0.91[EUR][1000 genomes]
rs2293088	0.84[CEU][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes]
rs33911740	0.93[EUR][1000 genomes]
rs3748612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3923394	0.96[CEU][hapmap];0.99[EUR][1000 genomes]
rs4845572	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6667279	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6679233	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7534811	0.88[CEU][hapmap];0.81[JPT][hapmap];0.93[EUR][1000 genomes]
rs868868	0.88[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9017	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs9826	0.87[CEU][hapmap];0.81[JPT][hapmap];0.92[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1781419	TDRKH	Cis_1M	lymphoblastoid	RTeQTL
rs1781419	TDRKH	cis	multi-tissue	Pritchard

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151736600-151751000	Weak transcription	Ovary	ovary
2	chr1:151736800-151747800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:151736800-151748000	Weak transcription	Colonic Mucosa	Colon
4	chr1:151736800-151750800	Weak transcription	Right Atrium	heart
5	chr1:151736800-151762600	Weak transcription	Gastric	stomach
6	chr1:151737000-151747800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:151737000-151748000	Weak transcription	Fetal Stomach	stomach
8	chr1:151737000-151748400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:151737000-151752200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:151737000-151762400	Weak transcription	Fetal Intestine Small	intestine
11	chr1:151737000-151762400	Weak transcription	HSMMtube	muscle
12	chr1:151737000-151762600	Weak transcription	Small Intestine	intestine
13	chr1:151737200-151748000	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:151737200-151753800	Weak transcription	A549	lung
15	chr1:151737800-151748400	Weak transcription	HepG2	liver
16	chr1:151738600-151750600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:151739400-151753200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:151740800-151759000	Weak transcription	Esophagus	oesophagus
19	chr1:151741000-151762600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:151741200-151753000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:151741200-151756200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:151742400-151755200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:151742800-151762600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:151744000-151762200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:151744200-151750600	Weak transcription	Fetal Intestine Large	intestine
26	chr1:151744600-151762200	Weak transcription	Primary B cells from cord blood	blood
27	chr1:151745200-151752600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:151745200-151752800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:151745400-151749800	Strong transcription	Fetal Brain Female	brain
30	chr1:151745400-151753200	Weak transcription	Fetal Kidney	kidney
31	chr1:151745400-151755600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:151745600-151754400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:151745600-151755400	Strong transcription	Primary T cells from cord blood	blood
34	chr1:151745800-151748200	Strong transcription	Liver	Liver
35	chr1:151745800-151749400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:151745800-151752800	Strong transcription	Brain Substantia Nigra	brain
37	chr1:151745800-151754600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:151745800-151754600	Strong transcription	Brain Germinal Matrix	brain
39	chr1:151745800-151755000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:151745800-151755400	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr1:151745800-151755600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:151745800-151755600	Strong transcription	Dnd41	blood
43	chr1:151746000-151748000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:151746000-151748000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:151746000-151749200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:151746000-151752800	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr1:151746000-151754600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:151746000-151762400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:151746200-151747800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:151746200-151748200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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