Variant report

Variant	rs58031860
Chromosome Location	chr11:46597389-46597390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46592583..46594145-chr11:46596692..46598551,2	K562	blood:
2	chr11:46578962..46580967-chr11:46596699..46599276,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1037873	1.00[AMR][1000 genomes]
rs55762640	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56692163	1.00[AMR][1000 genomes]
rs56851661	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59379166	1.00[AMR][1000 genomes]
rs61183349	1.00[AMR][1000 genomes]
rs7110413	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7117944	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7121799	1.00[AMR][1000 genomes]
rs736633	1.00[AMR][1000 genomes]
rs7938644	1.00[AMR][1000 genomes]
rs7946071	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7946801	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46568800-46611000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:46568800-46612600	Weak transcription	Brain Germinal Matrix	brain
3	chr11:46578000-46606200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:46579800-46606600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:46583000-46609600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr11:46583000-46613000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:46583200-46603800	Weak transcription	Right Atrium	heart
8	chr11:46583200-46606200	Weak transcription	K562	blood
9	chr11:46583200-46611800	Weak transcription	Thymus	Thymus
10	chr11:46583200-46612200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:46583200-46613800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:46583400-46597800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:46583400-46608400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr11:46583600-46612400	Weak transcription	Primary B cells from cord blood	blood
15	chr11:46584000-46613600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:46586600-46613800	Weak transcription	NH-A	brain
17	chr11:46587000-46602200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr11:46587600-46598000	Weak transcription	Pancreas	Pancrea
19	chr11:46587600-46602000	Weak transcription	Hela-S3	cervix
20	chr11:46587800-46597800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:46587800-46613200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:46589000-46614000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:46589600-46598800	Weak transcription	Fetal Thymus	thymus
24	chr11:46589600-46609600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:46589600-46613000	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:46589600-46613000	Weak transcription	Fetal Stomach	stomach
27	chr11:46589600-46614000	Weak transcription	Fetal Intestine Large	intestine
28	chr11:46589800-46599800	Weak transcription	Fetal Intestine Small	intestine
29	chr11:46591400-46611000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:46591800-46612200	Weak transcription	Aorta	Aorta
31	chr11:46592600-46597400	Weak transcription	Osteobl	bone
32	chr11:46592600-46597800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:46592600-46601400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:46592600-46612200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:46592600-46612200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:46592800-46597400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:46592800-46598000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr11:46592800-46600600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:46592800-46604000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr11:46592800-46606000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:46592800-46608200	Weak transcription	Primary T cells from cord blood	blood
42	chr11:46592800-46612200	Weak transcription	NHEK	skin
43	chr11:46592800-46612600	Weak transcription	Fetal Lung	lung
44	chr11:46592800-46613600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:46593000-46601800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:46593000-46612200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:46593000-46612600	Weak transcription	HSMMtube	muscle
48	chr11:46593200-46601600	Weak transcription	Fetal Heart	heart
49	chr11:46593200-46610600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:46593200-46612200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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