Variant report

Variant	rs73285975
Chromosome Location	chr8:100298971-100298972
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	chr8:100298711..100300024-chr8:100370075..100371268,5	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1487023	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57616437	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58745976	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59148253	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59713666	1.00[AMR][1000 genomes]
rs6999918	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271304	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271307	1.00[AMR][1000 genomes]
rs73271310	1.00[AMR][1000 genomes]
rs73271311	1.00[AMR][1000 genomes]
rs73271318	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285938	0.87[AFR][1000 genomes]
rs73285941	1.00[AMR][1000 genomes]
rs73285958	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285995	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287828	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287834	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287839	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287840	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287848	1.00[AMR][1000 genomes]
rs73287852	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287856	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287858	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287866	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287871	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv821659	chr8:100147641-100369829	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
10	nsv1031524	chr8:100204139-100399935	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv933080	chr8:100204936-100417432	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv611810	chr8:100208966-100301621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv891224	chr8:100232372-100336092	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv611811	chr8:100232372-100336447	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv611812	chr8:100232372-100464671	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv531506	chr8:100242477-100344417	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv1027031	chr8:100250184-100442195	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv539696	chr8:100250184-100442195	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
19	nsv933677	chr8:100254133-100455039	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv831407	chr8:100284406-100448725	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv1031100	chr8:100290887-100508952	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv539697	chr8:100290887-100508952	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv529685	chr8:100290888-100463947	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
25	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100278800-100302400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:100280800-100299000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:100284200-100301200	Weak transcription	GM12878-XiMat	blood
4	chr8:100284600-100312000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:100284800-100307200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:100286600-100303000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:100286600-100306000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:100286800-100314000	Weak transcription	HSMM	muscle
9	chr8:100288400-100304400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:100288800-100301600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:100288800-100302200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:100288800-100309000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr8:100289000-100301600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr8:100291000-100301800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr8:100291000-100303400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:100291200-100301800	Weak transcription	Primary T cells from cord blood	blood
17	chr8:100291200-100301800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:100291200-100302200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:100291200-100305000	Weak transcription	Dnd41	blood
20	chr8:100291400-100301800	Weak transcription	Psoas Muscle	Psoas
21	chr8:100291800-100314400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:100292000-100299200	Weak transcription	HepG2	liver
23	chr8:100292000-100315800	Weak transcription	Ovary	ovary
24	chr8:100292800-100305000	Weak transcription	Fetal Intestine Large	intestine
25	chr8:100293000-100302000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr8:100293600-100301800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:100293600-100303000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:100293600-100304400	Weak transcription	Right Ventricle	heart
29	chr8:100293800-100305200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:100294000-100301000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:100294000-100301600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr8:100294000-100301600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:100294400-100316400	Weak transcription	Primary B cells from cord blood	blood
34	chr8:100295800-100299200	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:100295800-100301600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:100297400-100299000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:100297600-100299000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr8:100297600-100299400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr8:100297600-100302200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr8:100298000-100299000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr8:100298000-100299000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr8:100298000-100299200	Enhancers	Colon Smooth Muscle	Colon
43	chr8:100298000-100299400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr8:100298000-100299400	Enhancers	Rectal Smooth Muscle	rectum
45	chr8:100298200-100299000	Enhancers	Fetal Stomach	stomach
46	chr8:100298200-100299400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:100298200-100299400	Enhancers	Liver	Liver
48	chr8:100298200-100299600	Enhancers	Fetal Heart	heart
49	chr8:100298400-100302200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:100298400-100305200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links