Variant report

Variant	rs10040733
Chromosome Location	chr5:99915733-99915734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10070160	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10073562	1.00[AMR][1000 genomes]
rs10477616	0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12719287	0.90[AFR][1000 genomes]
rs13360835	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13361748	0.90[YRI][hapmap];0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599165	chr5:99469004-100063039	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv948969	chr5:99534096-100133827	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv882461	chr5:99745767-99927338	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv882462	chr5:99745767-100060150	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1025890	chr5:99745775-99936186	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1017420	chr5:99745775-100133140	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv537825	chr5:99745775-100133140	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv882465	chr5:99784116-99927338	Flanking Active TSS Enhancers Strong transcription Weak 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	13 gene(s)	inside rSNPs	diseases
10	nsv1018395	chr5:99827242-100003207	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv823158	chr5:99912491-99960408	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99872400-99931400	Weak transcription	Aorta	Aorta
2	chr5:99872600-99922800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:99872800-99916200	Weak transcription	Ovary	ovary
4	chr5:99873400-99916200	Weak transcription	Fetal Stomach	stomach
5	chr5:99873400-99930600	Weak transcription	NH-A	brain
6	chr5:99878400-99930600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:99886800-99930200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:99887200-99916200	Weak transcription	Lung	lung
9	chr5:99887200-99924600	Weak transcription	Fetal Thymus	thymus
10	chr5:99895400-99919800	Weak transcription	HSMMtube	muscle
11	chr5:99895800-99921000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:99895800-99931000	Weak transcription	Fetal Intestine Large	intestine
13	chr5:99896200-99916200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:99896200-99927600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:99896600-99933800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:99896800-99931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:99897000-99928800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:99897200-99923800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:99898000-99930800	Weak transcription	Dnd41	blood
20	chr5:99899000-99930000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:99899600-99923200	Weak transcription	Fetal Brain Female	brain
22	chr5:99899800-99915800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr5:99899800-99916400	Weak transcription	GM12878-XiMat	blood
24	chr5:99899800-99919800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:99899800-99931400	Weak transcription	Adipose Nuclei	Adipose
26	chr5:99900000-99915800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:99900000-99922600	Weak transcription	Liver	Liver
28	chr5:99900000-99927600	Weak transcription	Left Ventricle	heart
29	chr5:99900200-99916200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:99900200-99919600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr5:99900200-99922400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr5:99900200-99922600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:99901400-99919800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:99901400-99925800	Weak transcription	Right Ventricle	heart
35	chr5:99901600-99916000	Weak transcription	Fetal Muscle Leg	muscle
36	chr5:99902200-99916000	Weak transcription	Primary T cells from cord blood	blood
37	chr5:99902800-99916000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:99902800-99922000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:99902800-99922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:99903600-99924600	Weak transcription	Fetal Lung	lung
41	chr5:99904600-99922600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:99905800-99916200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:99905800-99931000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:99908200-99916400	Weak transcription	Fetal Intestine Small	intestine
45	chr5:99910600-99929600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:99910800-99922600	Weak transcription	HSMM	muscle
47	chr5:99910800-99926200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr5:99912200-99922600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:99912200-99928600	Weak transcription	Psoas Muscle	Psoas
50	chr5:99912600-99930800	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links