Variant report

Variant	rs2428119
Chromosome Location	chr9:136707235-136707236
allele	C/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136706526..136708764-chr9:136709140..136712102,2	K562	blood:
2	chr9:136706828..136709602-chr9:136710306..136713075,3	MCF-7	breast:
3	chr9:136693193..136695419-chr9:136705719..136708043,2	MCF-7	breast:
4	chr9:136706030..136708990-chr9:136860281..136862454,2	MCF-7	breast:
5	chr9:136701985..136719064-chr9:136732605..136742545,35	MCF-7	breast:
6	chr9:136705845..136709816-chr9:136855790..136859235,6	MCF-7	breast:
7	chr9:136657809..136658776-chr9:136707143..136707993,3	MCF-7	breast:
8	chr9:136683947..136686001-chr9:136705549..136707591,2	MCF-7	breast:
9	chr9:136705990..136707757-chr9:136711957..136714615,2	MCF-7	breast:
10	chr9:136700981..136702843-chr9:136704343..136707980,3	MCF-7	breast:
11	chr9:136706526..136708477-chr9:136710602..136712874,2	K562	blood:
12	chr9:136697564..136700865-chr9:136704214..136707852,3	MCF-7	breast:
13	chr9:136705778..136709995-chr9:136855858..136859716,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10114092	1.00[AMR][1000 genomes]
rs10116423	1.00[AMR][1000 genomes]
rs10117330	1.00[AMR][1000 genomes]
rs10821538	1.00[AMR][1000 genomes]
rs10993858	1.00[AMR][1000 genomes]
rs10993859	1.00[AMR][1000 genomes]
rs10993867	1.00[AMR][1000 genomes]
rs10993868	1.00[AMR][1000 genomes]
rs2428120	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2428121	1.00[AMR][1000 genomes]
rs2486349	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2486352	1.00[AMR][1000 genomes]
rs2488562	1.00[AMR][1000 genomes]
rs2502733	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2502753	1.00[AMR][1000 genomes]
rs2502764	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2510236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2993799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3003585	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55950463	1.00[AMR][1000 genomes]
rs55977312	1.00[AMR][1000 genomes]
rs56908632	1.00[AMR][1000 genomes]
rs59975587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662309	1.00[AMR][1000 genomes]
rs73662310	1.00[AMR][1000 genomes]
rs73662321	1.00[AMR][1000 genomes]
rs73663862	1.00[AMR][1000 genomes]
rs9409867	1.00[AFR][1000 genomes];1.00[AMR][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	nsv894114	chr9:136538798-136779153	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv428546	chr9:136541745-136720872	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv831745	chr9:136593702-136780273	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv894117	chr9:136600201-136716399	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv831746	chr9:136607829-136750740	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv894122	chr9:136632662-136760639	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1035272	chr9:136665308-136772256	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv894123	chr9:136682408-136852501	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136675200-136728400	Weak transcription	Esophagus	oesophagus
2	chr9:136675400-136709400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr9:136686000-136709600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr9:136692000-136709800	Weak transcription	NH-A	brain
5	chr9:136697600-136709800	Weak transcription	Primary B cells from cord blood	blood
6	chr9:136698400-136718000	Weak transcription	Hela-S3	cervix
7	chr9:136699000-136709600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr9:136699200-136708800	Weak transcription	Brain Hippocampus Middle	brain
9	chr9:136700000-136709400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:136700000-136709600	Weak transcription	Gastric	stomach
11	chr9:136700800-136709800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr9:136701000-136707400	Weak transcription	NHEK	skin
13	chr9:136701000-136709800	Weak transcription	Brain Germinal Matrix	brain
14	chr9:136701400-136707600	Weak transcription	Lung	lung
15	chr9:136701400-136708800	Weak transcription	Ovary	ovary
16	chr9:136702000-136707400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:136702000-136708400	Enhancers	Fetal Intestine Large	intestine
18	chr9:136702600-136710000	Weak transcription	GM12878-XiMat	blood
19	chr9:136703200-136708200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:136704200-136710200	Enhancers	Fetal Muscle Leg	muscle
21	chr9:136704600-136708000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr9:136704800-136707800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr9:136704800-136708000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:136704800-136708200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr9:136705000-136707400	Enhancers	Fetal Brain Female	brain
26	chr9:136705000-136707600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:136705000-136709200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:136705200-136708400	Enhancers	Fetal Brain Male	brain
29	chr9:136705200-136710800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr9:136705200-136710800	Weak transcription	A549	lung
31	chr9:136705200-136711200	Genic enhancers	Fetal Intestine Small	intestine
32	chr9:136705400-136708800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr9:136705400-136709000	Weak transcription	Fetal Heart	heart
34	chr9:136705400-136709600	Weak transcription	HSMM	muscle
35	chr9:136705400-136709600	Weak transcription	HSMMtube	muscle
36	chr9:136705400-136726800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr9:136705600-136708800	Weak transcription	Liver	Liver
38	chr9:136705600-136708800	Weak transcription	Fetal Lung	lung
39	chr9:136705600-136709800	Weak transcription	Right Atrium	heart
40	chr9:136705600-136709800	Weak transcription	NHLF	lung
41	chr9:136705600-136710000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr9:136705600-136710200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr9:136705600-136710200	Weak transcription	NHDF-Ad	bronchial
44	chr9:136705600-136711000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr9:136705600-136719200	Weak transcription	Fetal Kidney	kidney
46	chr9:136705800-136707800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:136705800-136709400	Weak transcription	Left Ventricle	heart
48	chr9:136705800-136709800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:136705800-136709800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr9:136705800-136709800	Weak transcription	Osteobl	bone

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