Variant report

Variant	rs360143
Chromosome Location	chr11:9787947-9787948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9780866..9785648-chr11:9787509..9790769,4	K562	blood:
2	chr11:9783060..9784913-chr11:9787043..9789186,2	MCF-7	breast:
3	chr11:9780268..9785648-chr11:9787366..9790238,5	K562	blood:
4	chr11:9780371..9782120-chr11:9786518..9788356,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245522	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10118	0.84[CHB][hapmap];0.89[JPT][hapmap];0.97[ASN][1000 genomes]
rs10770062	0.89[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1392026	0.98[ASN][1000 genomes]
rs183110	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1875030	0.97[ASN][1000 genomes]
rs2173030	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2645017	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2645029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs360120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs360124	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs360127	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs360129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs360130	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs360131	0.91[ASN][1000 genomes]
rs360132	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs360140	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs360141	0.98[ASN][1000 genomes]
rs360142	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs360146	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs360150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs360151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs360158	0.90[CHB][hapmap]
rs380806	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs391304	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs394315	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs405449	0.80[AMR][1000 genomes]
rs432849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs438151	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs446760	1.00[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs472487	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs634680	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6483726	0.85[CHB][hapmap];0.90[JPT][hapmap]

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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1045550	chr11:9718324-9790088	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
5	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9780600-9813200	Weak transcription	Small Intestine	intestine
2	chr11:9780800-9788600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:9780800-9788600	Enhancers	Fetal Heart	heart
4	chr11:9780800-9794200	Enhancers	Fetal Muscle Leg	muscle
5	chr11:9781200-9789400	Enhancers	Placenta	Placenta
6	chr11:9781400-9795200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr11:9781400-9800800	Weak transcription	Fetal Brain Female	brain
8	chr11:9781600-9798200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:9781600-9801000	Weak transcription	Primary T cells from cord blood	blood
10	chr11:9781600-9809000	Weak transcription	Fetal Brain Male	brain
11	chr11:9781800-9790800	Enhancers	NHDF-Ad	bronchial
12	chr11:9781800-9799200	Weak transcription	Primary B cells from cord blood	blood
13	chr11:9781800-9799200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:9781800-9801200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:9781800-9801600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:9782000-9798000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:9782200-9796200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:9782400-9791600	Weak transcription	A549	lung
19	chr11:9782400-9799400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:9782600-9797800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:9783600-9788200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:9783800-9788200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:9784000-9788400	Weak transcription	NHEK	skin
24	chr11:9784000-9797200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:9784000-9801200	Weak transcription	Gastric	stomach
26	chr11:9784400-9797000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:9785400-9788000	Enhancers	Ovary	ovary
28	chr11:9785400-9788600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:9785400-9788600	Enhancers	Left Ventricle	heart
30	chr11:9785600-9788200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr11:9785600-9788800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:9785600-9789200	Enhancers	Spleen	Spleen
33	chr11:9785800-9788000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:9785800-9789000	Enhancers	NHLF	lung
35	chr11:9786000-9788400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:9786000-9788400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr11:9786200-9788000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:9786200-9788000	Enhancers	NH-A	brain
39	chr11:9786200-9788200	Enhancers	HUVEC	blood vessel
40	chr11:9786200-9788200	Enhancers	Osteobl	bone
41	chr11:9786200-9789000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr11:9786400-9788000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:9786400-9788000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:9786400-9788800	Genic enhancers	Fetal Stomach	stomach
45	chr11:9786600-9788000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:9786600-9788000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:9786600-9788000	Enhancers	Right Atrium	heart
48	chr11:9786600-9788200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr11:9786600-9788200	Enhancers	Right Ventricle	heart
50	chr11:9786600-9788600	Enhancers	Fetal Muscle Trunk	muscle

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