Variant report

Variant	rs10992621
Chromosome Location	chr9:95825927-95825928
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: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	chr9:95824581..95826118-chr9:95826533..95829514,2	MCF-7	breast:
2	chr9:95816364..95826268-chr9:95852309..95863275,20	MCF-7	breast:
3	chr9:95820029..95822398-chr9:95824222..95826137,2	MCF-7	breast:
4	chr9:95824479..95826328-chr9:95840688..95842946,2	K562	blood:
5	chr9:95823455..95825994-chr9:96212209..96214573,2	MCF-7	breast:
6	chr9:95812448..95814756-chr9:95824271..95826609,2	K562	blood:
7	chr9:95819521..95827100-chr9:95855273..95859349,14	K562	blood:
8	chr9:95819208..95822509-chr9:95822531..95826993,4	K562	blood:
9	chr9:95825270..95827646-chr9:95832621..95835628,3	K562	blood:

No data

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

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10761192	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs10821061	0.96[EUR][1000 genomes]
rs10992618	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10992619	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10992620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12375683	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12378442	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12552158	0.82[CEU][hapmap]
rs4743881	1.00[JPT][hapmap]
rs7028691	1.00[CEU][hapmap]

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:58 , 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	chr9:95821600-95827400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr9:95821600-95827600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
5	chr9:95821800-95827400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr9:95822000-95826200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr9:95822000-95834200	Weak transcription	Esophagus	oesophagus
8	chr9:95822000-95834200	Weak transcription	Right Atrium	heart
9	chr9:95822400-95826200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr9:95822400-95828600	Enhancers	Primary hematopoietic stem cells	blood
11	chr9:95822600-95834400	Weak transcription	Brain Hippocampus Middle	brain
12	chr9:95822800-95826000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:95822800-95831000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:95823000-95826000	Enhancers	Dnd41	blood
15	chr9:95823200-95826200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr9:95823400-95826400	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr9:95823400-95827800	Weak transcription	Right Ventricle	heart
18	chr9:95823600-95826200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr9:95823600-95826600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr9:95823800-95826800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:95824000-95826600	Weak transcription	HSMM	muscle
22	chr9:95824000-95826800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:95824000-95827000	Weak transcription	Placenta	Placenta
24	chr9:95824000-95833800	Weak transcription	Ovary	ovary
25	chr9:95824200-95827200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr9:95824400-95826600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr9:95824400-95827200	Weak transcription	Lung	lung
28	chr9:95824600-95826000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:95824600-95826800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr9:95824600-95854000	Weak transcription	Gastric	stomach
31	chr9:95824800-95826200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
32	chr9:95824800-95826800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr9:95824800-95827000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr9:95824800-95833200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr9:95825000-95826000	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr9:95825000-95827000	Weak transcription	Fetal Muscle Leg	muscle
37	chr9:95825200-95827000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr9:95825200-95829000	Weak transcription	Pancreas	Pancrea
39	chr9:95825200-95834000	Weak transcription	Liver	Liver
40	chr9:95825400-95826000	Enhancers	Primary T cells from cord blood	blood
41	chr9:95825400-95826000	Enhancers	Thymus	Thymus
42	chr9:95825400-95826400	Enhancers	Primary B cells from cord blood	blood
43	chr9:95825400-95826600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr9:95825400-95826800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr9:95825400-95827600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr9:95825400-95828200	Enhancers	Duodenum Mucosa	Duodenum
47	chr9:95825600-95826000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
48	chr9:95825600-95826000	Genic enhancers	Fetal Thymus	thymus
49	chr9:95825600-95826200	Genic enhancers	Fetal Intestine Small	intestine
50	chr9:95825600-95826800	Weak transcription	HepG2	liver

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