Variant report

Variant	rs7981648
Chromosome Location	chr13:50698153-50698154
allele	A/C
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:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155657855..155658631-chr13:50697915..50698694,2	Hela-S3	cervix:
2	chr13:50698118..50698742-chr3:73159765..73160613,2	Hela-S3	cervix:
3	chr13:50696984..50702154-chr13:51483455..51488031,9	K562	blood:
4	chr13:50696115..50698761-chr13:50935615..50937568,2	K562	blood:
5	chr13:50697606..50698365-chr14:96968135..96968884,2	NB4	blood:
6	chr13:50678670..50682437-chr13:50696050..50699691,4	K562	blood:
7	chr13:50658945..50659888-chr13:50697989..50698542,2	MCF-7	breast:
8	chr13:50676147..50677856-chr13:50697391..50699773,2	MCF-7	breast:
9	chr13:50652169..50667024-chr13:50693268..50703943,57	K562	blood:
10	chr13:50696202..50700492-chr13:50759152..50762847,4	K562	blood:
11	chr13:50568991..50573569-chr13:50697831..50701767,8	K562	blood:
12	chr13:50698039..50698709-chr5:177631325..177632017,2	Hela-S3	cervix:
13	chr13:50697681..50699849-chr13:50994691..50997532,2	K562	blood:
14	chr13:50569500..50573569-chr13:50696112..50701767,10	K562	blood:
15	chr1:12677990..12678893-chr13:50698130..50698692,2	Hela-S3	cervix:
16	chr13:50602746..50605620-chr13:50696752..50699195,2	K562	blood:
17	chr13:50696783..50699348-chr13:50762880..50765509,3	K562	blood:
18	chr13:50667173..50669730-chr13:50696420..50698590,2	K562	blood:
19	chr13:50697643..50699321-chr13:50747140..50749271,2	K562	blood:
20	chr13:50697161..50699455-chr13:51219489..51221158,2	MCF-7	breast:
21	chr13:50697804..50699328-chr13:50929557..50931227,2	MCF-7	breast:
22	chr13:50697912..50698717-chr3:152879896..152880555,2	Hela-S3	cervix:
23	chr13:50696547..50698472-chr13:50741739..50743363,2	MCF-7	breast:
24	chr13:50698015..50701526-chr13:51100615..51103673,4	MCF-7	breast:
25	chr13:50654073..50663597-chr13:50696674..50702768,25	MCF-7	breast:
26	chr13:50697977..50698964-chr13:51485927..51486494,2	K562	blood:
27	chr13:50697624..50699348-chr13:50762880..50765509,2	K562	blood:
28	chr13:50652189..50666968-chr13:50693462..50701392,46	MCF-7	breast:
29	chr13:50648761..50651214-chr13:50695521..50698783,3	K562	blood:
30	chr13:50696699..50698604-chr13:50990333..50993085,2	MCF-7	breast:
31	chr13:50696939..50701257-chr13:51483386..51488031,9	K562	blood:
32	chr13:50696930..50699533-chr13:50721791..50723702,2	MCF-7	breast:
33	chr13:50697182..50699802-chr2:74734440..74736539,2	MCF-7	breast:
34	chr13:50421554..50424015-chr13:50696890..50698594,2	K562	blood:
35	chr13:50642440..50645245-chr13:50696883..50698935,2	K562	blood:
36	chr13:50509656..50512115-chr13:50697543..50699521,2	K562	blood:
37	chr13:50696811..50698790-chr13:50714697..50717058,2	K562	blood:
38	chr13:50695987..50698741-chr13:50773838..50775840,2	K562	blood:
39	chr13:50672721..50675302-chr13:50698038..50700346,2	K562	blood:
40	chr13:50653006..50665770-chr13:50696335..50703879,43	K562	blood:
41	chr13:50698003..50698653-chr15:22833241..22833810,2	NB4	blood:
42	chr13:50696545..50699318-chr13:50829348..50831026,2	MCF-7	breast:
43	chr13:50697261..50699908-chr13:50935542..50937568,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000090060	Chromatin interaction
ENSG00000136104	Chromatin interaction
ENSG00000260806	Chromatin interaction
ENSG00000123178	Chromatin interaction
ENSG00000214359	Chromatin interaction
ENSG00000221198	Chromatin interaction
ENSG00000223676	Chromatin interaction
ENSG00000229323	Chromatin interaction
ENSG00000181467	Chromatin interaction
ENSG00000176124	Chromatin interaction
ENSG00000115289	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000163374	Chromatin interaction
ENSG00000233672	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000231607	Chromatin interaction
ENSG00000153575	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000197451	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12100048	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12583615	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.86[LWK][hapmap];0.88[MEX][hapmap];0.93[MKK][hapmap];0.84[TSI][hapmap];0.86[YRI][hapmap]
rs12584069	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap]
rs1323451	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17073655	1.00[CHB][hapmap]
rs17073724	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs17073826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17073834	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17471092	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1807033	1.00[CHB][hapmap];0.90[GIH][hapmap]
rs2066540	1.00[CHB][hapmap];0.90[GIH][hapmap]
rs2066552	0.90[GIH][hapmap]
rs2066553	1.00[CHB][hapmap];0.90[GIH][hapmap]
rs2066555	1.00[CHB][hapmap];0.90[GIH][hapmap]
rs2066566	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2066586	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2066598	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2177313	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs2181267	1.00[CHB][hapmap];0.89[GIH][hapmap]
rs2181268	1.00[CHB][hapmap]
rs2407882	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap]
rs61961304	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61961305	0.82[EUR][1000 genomes]
rs61961323	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61961325	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61961327	0.86[EUR][1000 genomes]
rs61961328	0.86[EUR][1000 genomes]
rs61962359	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561571	1.00[CHB][hapmap]
rs6561572	1.00[CHB][hapmap];0.90[GIH][hapmap]
rs6561575	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.88[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73196768	0.91[EUR][1000 genomes]
rs7325091	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7325993	0.86[EUR][1000 genomes]
rs732729	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap]
rs7334063	1.00[CHB][hapmap];0.90[GIH][hapmap]
rs7339181	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap]
rs7982125	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.88[MEX][hapmap];0.93[MKK][hapmap];0.94[TSI][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes]
rs7984332	1.00[CHB][hapmap];0.90[GIH][hapmap]
rs7986364	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs7990502	1.00[CHB][hapmap]
rs7991744	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7994224	1.00[CHB][hapmap];0.90[GIH][hapmap]
rs7995192	1.00[JPT][hapmap]
rs7995557	1.00[CHB][hapmap];0.90[GIH][hapmap]
rs7998223	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs9596240	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7981648	TRIM13	cis	cerebellum	SCAN
rs7981648	RB1	cis	cerebellum	SCAN
rs7981648	DLEU1	cis	parietal	SCAN
rs7981648	KCNRG	cis	cerebellum	SCAN
rs7981648	TRIM13	Cis_1M	lymphoblastoid	RTeQTL
rs7981648	C13orf1	cis	cerebellum	SCAN
rs7981648	DLEU1	cis	lymphoblastoid	seeQTL
rs7981648	DLEU1	Cis_1M	lymphoblastoid	RTeQTL
rs7981648	PCDH8	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50696400-50698600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr13:50697200-50698200	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr13:50697200-50698200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:50697200-50700400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:50697200-50700400	Active TSS	NHLF	lung
6	chr13:50697400-50698200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:50697400-50698200	Flanking Active TSS	Fetal Brain Male	brain
8	chr13:50697400-50700200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:50697400-50700400	Active TSS	Fetal Brain Female	brain
10	chr13:50697400-50700400	Active TSS	Fetal Muscle Leg	muscle
11	chr13:50697400-50700600	Active TSS	Right Ventricle	heart
12	chr13:50697600-50698200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr13:50697600-50698200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr13:50697600-50698200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr13:50697600-50698200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:50697600-50698200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:50697600-50698200	Flanking Active TSS	HMEC	breast
18	chr13:50697600-50698200	Flanking Active TSS	HUVEC	blood vessel
19	chr13:50697600-50700000	Active TSS	Colonic Mucosa	Colon
20	chr13:50697600-50700200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:50697600-50700200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr13:50697600-50700200	Active TSS	Pancreas	Pancrea
23	chr13:50697600-50700400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr13:50697600-50700400	Active TSS	Placenta	Placenta
25	chr13:50697600-50700600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:50697600-50700600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:50697600-50700600	Active TSS	Aorta	Aorta
28	chr13:50697600-50700600	Active TSS	Lung	lung
29	chr13:50697600-50700800	Active TSS	Esophagus	oesophagus
30	chr13:50697600-50700800	Active TSS	Fetal Muscle Trunk	muscle
31	chr13:50697600-50702000	Active TSS	Psoas Muscle	Psoas
32	chr13:50697600-50702000	Active TSS	Right Atrium	heart
33	chr13:50697600-50702200	Active TSS	Left Ventricle	heart
34	chr13:50697800-50698200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
35	chr13:50697800-50698200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:50697800-50698200	Bivalent/Poised TSS	HepG2	liver
37	chr13:50697800-50698600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr13:50697800-50698800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr13:50697800-50699000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr13:50697800-50699400	Active TSS	Fetal Heart	heart
41	chr13:50697800-50699600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr13:50697800-50700000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:50697800-50700000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr13:50697800-50700000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr13:50697800-50700000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
46	chr13:50697800-50700000	Active TSS	Placenta Amnion	Placenta Amnion
47	chr13:50697800-50700200	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr13:50697800-50700200	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr13:50697800-50700200	Active TSS	Fetal Intestine Large	intestine
50	chr13:50697800-50700200	Active TSS	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links