Variant report

Variant	rs8085977
Chromosome Location	chr18:9495233-9495234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9488871..9491577-chr18:9494305..9496056,2	MCF-7	breast:
2	chr18:9474140..9476697-chr18:9492130..9496293,4	MCF-7	breast:
3	chr18:9483756..9486081-chr18:9493514..9495477,2	K562	blood:
4	chr18:9473406..9476796-chr18:9492556..9495953,5	MCF-7	breast:
5	chr18:9494936..9496887-chr18:9498757..9501330,3	K562	blood:

Variant related genes	Relation type
ENSG00000017797	Chromatin interaction
ENSG00000273335	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11874157	1.00[TSI][hapmap]
rs2165909	1.00[AMR][1000 genomes]
rs8089205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8094679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9476800-9496000	Weak transcription	Stomach Mucosa	stomach
2	chr18:9477000-9514000	Weak transcription	NH-A	brain
3	chr18:9477200-9513800	Weak transcription	HSMM	muscle
4	chr18:9477800-9501800	Weak transcription	NHDF-Ad	bronchial
5	chr18:9477800-9503200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr18:9478000-9503400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr18:9478000-9508400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:9478000-9522400	Weak transcription	Hela-S3	cervix
9	chr18:9479000-9496800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:9479000-9500200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr18:9479000-9514000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr18:9479000-9533200	Weak transcription	Aorta	Aorta
13	chr18:9479000-9533600	Weak transcription	Gastric	stomach
14	chr18:9480200-9513800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr18:9483000-9513800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:9483400-9498000	Weak transcription	Dnd41	blood
17	chr18:9489200-9500400	Weak transcription	Primary B cells from cord blood	blood
18	chr18:9491400-9495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr18:9492400-9501400	Weak transcription	Fetal Thymus	thymus
20	chr18:9492600-9497400	Weak transcription	Fetal Intestine Large	intestine
21	chr18:9492600-9499000	Weak transcription	Fetal Intestine Small	intestine
22	chr18:9492600-9514000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr18:9492800-9503400	Weak transcription	A549	lung
24	chr18:9493000-9495600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:9493000-9495600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr18:9493000-9495600	Weak transcription	Fetal Muscle Leg	muscle
27	chr18:9493000-9499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr18:9493000-9500800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:9493600-9495400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr18:9493600-9495800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr18:9493600-9496000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr18:9493600-9496000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr18:9493600-9496200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr18:9493600-9496800	Weak transcription	Fetal Stomach	stomach
35	chr18:9493800-9495800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr18:9493800-9496200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr18:9493800-9496800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr18:9493800-9496800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr18:9493800-9496800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr18:9493800-9506200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr18:9494000-9495400	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr18:9494000-9495400	Enhancers	Small Intestine	intestine
43	chr18:9494000-9495400	Enhancers	Spleen	Spleen
44	chr18:9494000-9495800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr18:9494000-9496200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr18:9494000-9497600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr18:9494000-9497600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr18:9494000-9497600	Enhancers	Placenta	Placenta
49	chr18:9494200-9495400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr18:9494200-9495400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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