Variant report

Variant	rs2240385
Chromosome Location	chr7:99026837-99026838
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	chr7:99021211..99022744-chr7:99025529..99028020,2	MCF-7	breast:
2	chr7:99005571..99007892-chr7:99025987..99028381,2	MCF-7	breast:
3	chr7:99015297..99018039-chr7:99026570..99029303,2	K562	blood:
4	chr7:99026500..99029422-chr7:99032400..99035110,2	K562	blood:
5	chr7:99019766..99021951-chr7:99025804..99027414,2	MCF-7	breast:
6	chr7:99025112..99027290-chr7:99035346..99038143,2	K562	blood:
7	chr7:99025099..99027768-chr7:99034111..99036844,3	MCF-7	breast:
8	chr7:99020429..99023882-chr7:99024975..99028179,3	K562	blood:
9	chr7:99004290..99006114-chr7:99025633..99027496,2	K562	blood:
10	chr7:99020471..99023882-chr7:99024975..99028185,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160917	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000106244	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1002172	0.84[EUR][1000 genomes]
rs1004387	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10225314	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes]
rs10238965	0.85[CHB][hapmap];0.87[CHD][hapmap];0.83[JPT][hapmap]
rs10240199	0.82[ASN][1000 genomes]
rs10244158	0.82[ASN][1000 genomes]
rs10254729	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs10265385	0.84[ASN][1000 genomes]
rs10271049	0.86[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs10279308	0.94[YRI][hapmap]
rs1043466	0.86[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs10464604	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11539770	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11772470	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs11976018	0.86[CHB][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap]
rs12538826	0.99[ASN][1000 genomes]
rs13227795	0.81[ASN][1000 genomes]
rs13240600	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs13437771	0.81[ASN][1000 genomes]
rs17161652	1.00[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17161677	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17161698	1.00[CEU][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161766	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17161768	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17161769	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17161771	0.84[EUR][1000 genomes]
rs17161772	0.84[EUR][1000 genomes]
rs17161774	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17161780	0.92[EUR][1000 genomes]
rs17161783	0.92[EUR][1000 genomes]
rs1980307	0.85[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1985453	1.00[ASW][hapmap];0.82[LWK][hapmap];0.88[MEX][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2003499	0.94[YRI][hapmap]
rs2057906	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2107705	1.00[EUR][1000 genomes]
rs2240384	0.86[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs2269985	1.00[CEU][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2272168	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs2280600	0.86[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2280601	0.86[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2404322	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28457808	0.81[ASN][1000 genomes]
rs3137	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs3764815	1.00[CEU][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3779354	0.90[CHB][hapmap];0.89[CHD][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs3800960	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3843540	0.86[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap]
rs45492098	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs45540134	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45622743	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4646447	0.92[EUR][1000 genomes]
rs4646449	0.92[EUR][1000 genomes]
rs4646453	0.92[EUR][1000 genomes]
rs4646456	0.92[EUR][1000 genomes]
rs58024720	0.84[EUR][1000 genomes]
rs58222677	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58421977	1.00[EUR][1000 genomes]
rs59986060	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60301933	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60865030	0.92[EUR][1000 genomes]
rs61159815	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61337492	0.92[EUR][1000 genomes]
rs61402640	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61543997	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6961634	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs6962772	0.86[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs72494451	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72494452	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73709637	1.00[EUR][1000 genomes]
rs73709641	1.00[EUR][1000 genomes]
rs7794682	0.86[ASN][1000 genomes]
rs7794705	0.86[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs868564	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs883403	0.83[ASN][1000 genomes]
rs917154	0.86[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs940336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv888767	chr7:99017832-99050039	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv888768	chr7:99017832-99052428	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv888769	chr7:99018584-99041748	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
6	nsv888770	chr7:99021344-99041748	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2240385	BUD31	cis	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99007200-99035400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:99011400-99035000	Weak transcription	Fetal Brain Male	brain
3	chr7:99011600-99032200	Weak transcription	NHDF-Ad	bronchial
4	chr7:99013200-99028800	Strong transcription	Fetal Intestine Small	intestine
5	chr7:99015600-99035200	Weak transcription	Fetal Kidney	kidney
6	chr7:99015600-99035400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:99015600-99035600	Weak transcription	Stomach Mucosa	stomach
8	chr7:99016800-99036000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:99017600-99030200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:99017600-99035600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:99017800-99027000	Weak transcription	HUVEC	blood vessel
12	chr7:99018200-99035200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:99018200-99035400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:99018400-99035600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:99019000-99027000	Weak transcription	Hela-S3	cervix
16	chr7:99020200-99030000	Weak transcription	HSMM	muscle
17	chr7:99021400-99034400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:99021600-99035200	Weak transcription	HMEC	breast
19	chr7:99022200-99035400	Weak transcription	NH-A	brain
20	chr7:99023000-99027000	Weak transcription	HSMMtube	muscle
21	chr7:99023000-99027800	Weak transcription	Osteobl	bone
22	chr7:99023000-99036000	Weak transcription	Small Intestine	intestine
23	chr7:99025600-99027000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:99025600-99027000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:99025600-99028400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:99025600-99028600	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr7:99025600-99028600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:99025600-99028600	Strong transcription	Brain Substantia Nigra	brain
29	chr7:99025600-99031400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr7:99025600-99033000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:99025600-99033000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:99025600-99033000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:99025600-99033000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:99025600-99033200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:99025600-99033200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:99025600-99033400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:99025600-99033400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:99025600-99033800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:99025600-99034400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:99025600-99034800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:99025600-99034800	Strong transcription	Fetal Muscle Leg	muscle
42	chr7:99025600-99035200	Strong transcription	Fetal Stomach	stomach
43	chr7:99025800-99028200	Strong transcription	NHEK	skin
44	chr7:99025800-99031200	Strong transcription	Thymus	Thymus
45	chr7:99025800-99033000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:99025800-99033200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr7:99025800-99034000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:99026000-99028200	Strong transcription	Fetal Lung	lung
49	chr7:99026000-99028400	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr7:99026000-99032800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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