Variant report

Variant	rs10992618
Chromosome Location	chr9:95823560-95823561
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95819533..95824260-chr9:95855982..95859349,6	K562	blood:
2	chr9:95822333..95825278-chr9:95837106..95839130,2	K562	blood:
3	chr9:95818455..95825266-chr9:95831322..95836031,9	K562	blood:
4	chr9:95816364..95826268-chr9:95852309..95863275,20	MCF-7	breast:
5	chr9:95791616..95793622-chr9:95821963..95824381,2	MCF-7	breast:
6	chr9:95819594..95823966-chr9:95894549..95897415,5	MCF-7	breast:
7	chr9:95823455..95825994-chr9:96212209..96214573,2	MCF-7	breast:
8	chr9:95819521..95827100-chr9:95855273..95859349,14	K562	blood:
9	chr9:95821374..95823833-chr9:95837106..95839340,2	K562	blood:
10	chr9:95819208..95822509-chr9:95822531..95826993,4	K562	blood:
11	chr9:95821315..95824272-chr9:95832580..95834111,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223446	Chromatin interaction
ENSG00000127084	Chromatin interaction
ENSG00000157303	Chromatin interaction
ENSG00000165233	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000131669	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10821061	0.94[EUR][1000 genomes]
rs10992619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10992620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10992621	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12375683	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12378442	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1054767	chr9:95738134-95875977	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1035230	chr9:95770249-95934982	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats 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	28 gene(s)	inside rSNPs	diseases
4	nsv893575	chr9:95781040-95854013	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv1824329	chr9:95811604-95921347	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv893577	chr9:95812707-95872216	Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv893578	chr9:95818641-95887320	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95820800-95827600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr9:95821000-95827400	Flanking Active TSS	GM12878-XiMat	blood
3	chr9:95821400-95823600	Bivalent Enhancer	Fetal Stomach	stomach
4	chr9:95821400-95823800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:95821400-95824400	Enhancers	Lung	lung
6	chr9:95821600-95823600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr9:95821600-95823800	Flanking Active TSS	K562	blood
8	chr9:95821600-95824800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr9:95821600-95827400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr9:95821600-95827600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr9:95821800-95823800	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr9:95821800-95824000	Enhancers	A549	lung
13	chr9:95821800-95824200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:95821800-95824200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr9:95821800-95824800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr9:95821800-95824800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr9:95821800-95825000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr9:95821800-95825000	Flanking Active TSS	HepG2	liver
19	chr9:95821800-95825400	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr9:95821800-95827400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr9:95822000-95824000	Enhancers	Placenta	Placenta
22	chr9:95822000-95824200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr9:95822000-95824600	Enhancers	Gastric	stomach
24	chr9:95822000-95825000	Enhancers	Spleen	Spleen
25	chr9:95822000-95825200	Enhancers	Liver	Liver
26	chr9:95822000-95825600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr9:95822000-95825600	Enhancers	Fetal Intestine Small	intestine
28	chr9:95822000-95826200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr9:95822000-95834200	Weak transcription	Esophagus	oesophagus
30	chr9:95822000-95834200	Weak transcription	Right Atrium	heart
31	chr9:95822200-95824000	Enhancers	Ovary	ovary
32	chr9:95822200-95825200	Enhancers	Pancreas	Pancrea
33	chr9:95822200-95825800	Enhancers	Fetal Intestine Large	intestine
34	chr9:95822400-95823800	Enhancers	Colon Smooth Muscle	Colon
35	chr9:95822400-95824000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr9:95822400-95824400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr9:95822400-95824600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr9:95822400-95824600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr9:95822400-95826200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr9:95822400-95828600	Enhancers	Primary hematopoietic stem cells	blood
41	chr9:95822600-95823800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:95822600-95824000	Enhancers	Thymus	Thymus
43	chr9:95822600-95824000	Enhancers	Osteobl	bone
44	chr9:95822600-95825000	Enhancers	Fetal Muscle Leg	muscle
45	chr9:95822600-95834400	Weak transcription	Brain Hippocampus Middle	brain
46	chr9:95822800-95823600	Enhancers	NHLF	lung
47	chr9:95822800-95823800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr9:95822800-95824000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr9:95822800-95824200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr9:95822800-95824200	Weak transcription	H1 Cell Line	embryonic stem cell

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