Variant report

Variant	rs1670571
Chromosome Location	chr11:73550026-73550027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr11:73549503-73550030	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF12	chr11:73549943-73550501	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73547802..73550044-chr11:73567818..73570244,2	MCF-7	breast:
2	chr11:73533086..73535847-chr11:73549972..73551920,2	MCF-7	breast:

Variant related genes	Relation type
MRPL48	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1466218	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1531001	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1598044	0.89[AFR][1000 genomes]
rs1618529	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1621654	0.86[YRI][hapmap]
rs1623476	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1670538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1670553	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1670555	0.91[AFR][1000 genomes]
rs1670560	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1670561	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1670574	0.93[AFR][1000 genomes]
rs1723834	0.86[YRI][hapmap]
rs1723838	0.86[YRI][hapmap]
rs1723844	0.86[YRI][hapmap]
rs1723845	0.86[YRI][hapmap]
rs1723846	0.86[YRI][hapmap]
rs1723849	0.86[YRI][hapmap]
rs17244671	0.91[EUR][1000 genomes]
rs17310409	0.93[EUR][1000 genomes]
rs1792157	0.86[YRI][hapmap];0.89[AFR][1000 genomes]
rs1792164	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792186	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1792189	0.91[AFR][1000 genomes]
rs1792194	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792197	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1792202	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs1880643	0.86[YRI][hapmap]
rs2444602	0.93[AFR][1000 genomes]
rs2511262	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2511269	0.83[AFR][1000 genomes]
rs2511273	0.82[AFR][1000 genomes]
rs2511275	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2512633	1.00[YRI][hapmap]
rs2515091	0.90[AFR][1000 genomes]
rs2515095	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs2886812	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2924504	0.96[AFR][1000 genomes]
rs3019137	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35133035	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4944854	0.86[YRI][hapmap]
rs4944859	0.86[YRI][hapmap]
rs594814	0.85[YRI][hapmap]
rs627627	0.96[AFR][1000 genomes]
rs651833	0.96[AFR][1000 genomes]
rs6592529	0.86[YRI][hapmap]
rs7480464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7932364	0.86[YRI][hapmap]
rs935987	1.00[YRI][hapmap]
rs935989	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs9634024	0.86[YRI][hapmap]
rs9651759	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
2	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
3	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
4	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
5	chr11:73500600-73553800	Weak transcription	Fetal Lung	lung
6	chr11:73500800-73558800	Weak transcription	NHEK	skin
7	chr11:73508400-73570600	Weak transcription	Psoas Muscle	Psoas
8	chr11:73508800-73565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
10	chr11:73508800-73575400	Weak transcription	Gastric	stomach
11	chr11:73509000-73553200	Weak transcription	Lung	lung
12	chr11:73516000-73553200	Weak transcription	HepG2	liver
13	chr11:73517000-73562800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr11:73517000-73565200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
16	chr11:73531800-73555600	Weak transcription	Fetal Kidney	kidney
17	chr11:73533000-73580400	Weak transcription	Stomach Mucosa	stomach
18	chr11:73537200-73559800	Weak transcription	Small Intestine	intestine
19	chr11:73537400-73582600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:73539000-73577200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:73539200-73574200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:73539200-73583800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:73540000-73571200	Weak transcription	NHDF-Ad	bronchial
24	chr11:73540800-73577400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:73541200-73553800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:73541200-73554200	Weak transcription	Placenta	Placenta
27	chr11:73541400-73554000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:73541600-73553200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:73541600-73567000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:73541800-73574000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr11:73541800-73583600	Weak transcription	Esophagus	oesophagus
32	chr11:73542000-73552200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:73542400-73553200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:73542400-73553600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:73542400-73577400	Weak transcription	HUVEC	blood vessel
36	chr11:73542600-73553600	Weak transcription	Left Ventricle	heart
37	chr11:73542600-73553800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:73542600-73553800	Weak transcription	Fetal Thymus	thymus
39	chr11:73542600-73554000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:73542600-73555000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:73542600-73577200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:73543600-73554000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr11:73543800-73555200	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:73543800-73560400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:73544000-73553000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:73544000-73553200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr11:73544000-73555400	Weak transcription	Brain Germinal Matrix	brain
48	chr11:73544400-73550600	Weak transcription	Hela-S3	cervix
49	chr11:73544400-73553200	Weak transcription	Fetal Brain Female	brain
50	chr11:73544400-73553800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links