Variant report

Variant	rs11988179
Chromosome Location	chr8:125210194-125210195
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125209307..125211794-chr8:125460227..125463007,2	K562	blood:
2	chr8:125206026..125208794-chr8:125210162..125212251,3	MCF-7	breast:
3	chr8:125052750..125054296-chr8:125209994..125212919,2	MCF-7	breast:
4	chr8:125209984..125213201-chr8:125217353..125219383,3	K562	blood:
5	chr8:125208704..125210410-chr8:125218564..125221034,2	K562	blood:
6	chr8:125199649..125202361-chr8:125208886..125211211,2	K562	blood:
7	chr8:125208077..125210980-chr8:125384559..125386358,2	K562	blood:
8	chr3:101567349..101568966-chr8:125209451..125212175,2	MCF-7	breast:
9	chr8:125201433..125203179-chr8:125210038..125211818,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164983	Chromatin interaction
ENSG00000144802	Chromatin interaction
ENSG00000181171	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11985624	1.00[EUR][1000 genomes]
rs11986399	1.00[EUR][1000 genomes]
rs11993616	1.00[EUR][1000 genomes]
rs16899392	1.00[EUR][1000 genomes]
rs16899395	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16899398	1.00[EUR][1000 genomes]
rs16899412	1.00[EUR][1000 genomes]
rs16899415	1.00[EUR][1000 genomes]
rs55665685	1.00[EUR][1000 genomes]
rs55983716	1.00[EUR][1000 genomes]
rs56187466	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56245137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56293000	1.00[EUR][1000 genomes]
rs56348823	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59692764	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60849706	1.00[EUR][1000 genomes]
rs61668924	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6470232	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6470234	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6980940	1.00[EUR][1000 genomes]
rs6991501	1.00[EUR][1000 genomes]
rs6999329	1.00[EUR][1000 genomes]
rs7003668	1.00[EUR][1000 genomes]
rs7003913	1.00[EUR][1000 genomes]
rs73328371	1.00[EUR][1000 genomes]
rs73703979	1.00[EUR][1000 genomes]
rs73703980	1.00[EUR][1000 genomes]
rs73703982	1.00[EUR][1000 genomes]
rs73703990	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73703992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73703993	1.00[EUR][1000 genomes]
rs73703995	1.00[EUR][1000 genomes]
rs73703996	1.00[EUR][1000 genomes]
rs73703997	1.00[EUR][1000 genomes]
rs73703999	1.00[EUR][1000 genomes]
rs73704000	1.00[EUR][1000 genomes]
rs73704001	1.00[EUR][1000 genomes]
rs7816741	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv891429	chr8:125163219-125246937	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125202400-125212800	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr8:125203000-125213200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr8:125205600-125212800	Weak transcription	Pancreas	Pancrea
4	chr8:125206200-125211200	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:125206400-125213400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:125206600-125214000	Weak transcription	Gastric	stomach
7	chr8:125207000-125210200	Enhancers	Thymus	Thymus
8	chr8:125207200-125215000	Enhancers	Fetal Lung	lung
9	chr8:125207400-125210800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr8:125207400-125211200	Enhancers	Placenta	Placenta
11	chr8:125207600-125211000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:125207600-125211000	Enhancers	Dnd41	blood
13	chr8:125207800-125210600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr8:125208200-125210800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:125208200-125211200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:125208200-125211600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:125208200-125211600	Enhancers	A549	lung
18	chr8:125208200-125211800	Enhancers	Hela-S3	cervix
19	chr8:125208400-125210400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:125208400-125210400	Enhancers	Right Ventricle	heart
21	chr8:125208400-125210600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:125208400-125210800	Enhancers	Fetal Heart	heart
23	chr8:125208400-125211000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr8:125208600-125210200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:125208600-125210200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr8:125208600-125210400	Enhancers	Fetal Kidney	kidney
27	chr8:125208600-125210400	Enhancers	Right Atrium	heart
28	chr8:125208600-125210400	Enhancers	NHDF-Ad	bronchial
29	chr8:125208600-125210600	Enhancers	Spleen	Spleen
30	chr8:125208600-125211800	Enhancers	NHLF	lung
31	chr8:125208600-125215000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:125208600-125215000	Enhancers	Psoas Muscle	Psoas
33	chr8:125208800-125210600	Enhancers	Left Ventricle	heart
34	chr8:125208800-125212200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:125209000-125210400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:125209000-125210400	Enhancers	Stomach Mucosa	stomach
37	chr8:125209000-125210600	Enhancers	Fetal Muscle Leg	muscle
38	chr8:125209200-125210200	Flanking Active TSS	NH-A	brain
39	chr8:125209200-125210400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr8:125209200-125210400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:125209200-125210400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:125209200-125210400	Enhancers	Esophagus	oesophagus
43	chr8:125209200-125210400	Enhancers	Fetal Intestine Small	intestine
44	chr8:125209200-125210600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:125209200-125210600	Enhancers	Fetal Intestine Large	intestine
46	chr8:125209200-125210600	Enhancers	HSMMtube	muscle
47	chr8:125209200-125214400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr8:125209400-125210200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr8:125209400-125210200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr8:125209400-125210200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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