Variant report

Variant	rs2280942
Chromosome Location	chr8:11667895-11667896
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	chr8:11666673..11669607-chr8:11678720..11681322,2	K562	blood:
2	chr8:11658229..11662389-chr8:11662980..11669380,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255046	Chromatin interaction
ENSG00000079459	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12543505	0.93[ASN][1000 genomes]
rs2280943	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription 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	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1032739	chr8:11643803-11716473	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv890363	chr8:11647941-11681825	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv890364	chr8:11654796-11671041	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
18	nsv890365	chr8:11666451-11735641	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv890366	chr8:11666451-11900847	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv1031158	chr8:11666558-11759064	Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv539477	chr8:11666558-11759064	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv1018042	chr8:11667496-11882385	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11660400-11668200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr8:11664200-11669000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:11666200-11668000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:11666400-11669000	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr8:11666400-11670400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:11666400-11671400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:11666600-11668000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:11666600-11668000	Genic enhancers	K562	blood
9	chr8:11666600-11669600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:11666600-11670400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:11666600-11671200	Weak transcription	Small Intestine	intestine
12	chr8:11666800-11668000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:11666800-11668000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:11666800-11668000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
15	chr8:11666800-11668200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:11666800-11668200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr8:11666800-11668200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:11666800-11668200	Genic enhancers	HMEC	breast
19	chr8:11666800-11669000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:11666800-11669200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:11666800-11669600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr8:11666800-11669600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:11666800-11670800	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:11666800-11670800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:11666800-11673000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:11666800-11673600	Strong transcription	Fetal Thymus	thymus
27	chr8:11667000-11668000	Genic enhancers	Primary T cells fromperipheralblood	blood
28	chr8:11667000-11668000	Enhancers	Psoas Muscle	Psoas
29	chr8:11667000-11668200	Genic enhancers	NHEK	skin
30	chr8:11667000-11668400	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr8:11667000-11669000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:11667000-11669000	Enhancers	Stomach Mucosa	stomach
33	chr8:11667000-11669400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:11667000-11669400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:11667000-11670000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:11667000-11670200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:11667000-11670800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:11667000-11670800	Strong transcription	GM12878-XiMat	blood
39	chr8:11667000-11671200	Strong transcription	Hela-S3	cervix
40	chr8:11667000-11671600	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:11667000-11672000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr8:11667000-11672000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr8:11667000-11672000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
44	chr8:11667000-11672000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
45	chr8:11667000-11672000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:11667000-11672200	Strong transcription	A549	lung
47	chr8:11667000-11672200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr8:11667000-11672400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:11667000-11673000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:11667000-11711000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links