Variant report

Variant	rs7540705
Chromosome Location	chr1:227772414-227772415
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227753836..227756057-chr1:227770854..227772985,2	K562	blood:
2	chr1:227770918..227773838-chr1:227849267..227851586,2	K562	blood:
3	chr1:227769896..227772528-chr12:68989932..68992642,2	K562	blood:
4	chr1:227746379..227748088-chr1:227771119..227773064,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10159323	0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10916168	0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1390402	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1817929	1.00[AMR][1000 genomes]
rs1826774	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1874372	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2313246	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2492633	1.00[AMR][1000 genomes]
rs2644142	1.00[AMR][1000 genomes]
rs2814062	1.00[AMR][1000 genomes]
rs2819497	1.00[AMR][1000 genomes]
rs2935148	0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2935151	0.91[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2999738	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2999739	0.95[AFR][1000 genomes]
rs2999747	0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3010184	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4653513	1.00[AMR][1000 genomes]
rs6426466	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6426467	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6662898	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7521659	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs903696	1.00[AMR][1000 genomes]
rs976960	1.00[AMR][1000 genomes]
rs9943170	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv873248	chr1:227710381-227786033	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3338615	chr1:227738421-227798486	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227752200-227774400	Weak transcription	Aorta	Aorta
2	chr1:227752400-227780600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:227754400-227783600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:227760200-227773600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:227760200-227783800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:227760200-227784600	Weak transcription	Fetal Kidney	kidney
7	chr1:227760800-227772800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:227764400-227778400	Weak transcription	HSMMtube	muscle
9	chr1:227766000-227774000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:227766400-227773400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:227767000-227772800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:227767000-227776400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr1:227767200-227773200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:227767200-227776200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:227767200-227779000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:227767600-227772600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:227767600-227774000	Weak transcription	Fetal Stomach	stomach
18	chr1:227767600-227780600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:227767600-227783400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:227768000-227774400	Weak transcription	Gastric	stomach
21	chr1:227768000-227774400	Weak transcription	Ovary	ovary
22	chr1:227768000-227774600	Weak transcription	Right Ventricle	heart
23	chr1:227768000-227783600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:227769800-227773600	Weak transcription	Fetal Brain Male	brain
25	chr1:227769800-227780800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:227770000-227775400	Weak transcription	Placenta	Placenta
27	chr1:227770000-227853800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:227770400-227775200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:227770600-227781200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:227770600-227784400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:227770800-227774000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:227771200-227773000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr1:227771200-227776200	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr1:227771400-227772600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
35	chr1:227771400-227772600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
36	chr1:227771400-227772800	ZNF genes & repeats	A549	lung
37	chr1:227771400-227776200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
38	chr1:227771400-227778800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:227771400-227778800	ZNF genes & repeats	Dnd41	blood
40	chr1:227771600-227772600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:227771600-227772600	ZNF genes & repeats	Fetal Muscle Leg	muscle
42	chr1:227771600-227773400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:227771800-227772600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:227771800-227774400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:227771800-227774600	ZNF genes & repeats	Fetal Lung	lung
46	chr1:227771800-227790600	Weak transcription	Left Ventricle	heart
47	chr1:227772000-227772600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:227772000-227772600	ZNF genes & repeats	Primary T cells from cord blood	blood
49	chr1:227772200-227773000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
50	chr1:227772400-227772600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood

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