Variant report

Variant	rs2119733
Chromosome Location	chr4:77114748-77114749
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:62221990..62223690-chr4:77114396..77116252,2	MCF-7	breast:
2	chr4:77108730..77110793-chr4:77112512..77115192,2	K562	blood:

Variant related genes	Relation type
ENSG00000199753	Chromatin interaction
ENSG00000266402	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12499989	0.80[ASN][1000 genomes]
rs12508946	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17001561	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17001654	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4376175	0.81[EUR][1000 genomes]
rs61750814	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6825004	0.88[AFR][1000 genomes]
rs6829784	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835324	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655523	0.81[EUR][1000 genomes]
rs72655532	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655536	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72655538	0.95[EUR][1000 genomes]
rs72655539	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461558	chr4:77033725-77115553	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv594694	chr4:77033725-77115553	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77090200-77114800	Weak transcription	Hela-S3	cervix
2	chr4:77097400-77115000	Weak transcription	NH-A	brain
3	chr4:77097600-77119600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:77105600-77115000	Weak transcription	Fetal Heart	heart
5	chr4:77107800-77114800	Weak transcription	Colonic Mucosa	Colon
6	chr4:77109800-77117400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:77110200-77117000	Strong transcription	Primary T cells from cord blood	blood
8	chr4:77110600-77116600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:77111000-77118000	Strong transcription	Duodenum Mucosa	Duodenum
10	chr4:77111200-77115200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:77111400-77115000	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr4:77112000-77115000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:77112200-77114800	Strong transcription	NHLF	lung
14	chr4:77112400-77114800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:77112400-77115200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr4:77112400-77115200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:77112400-77115400	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:77112400-77117000	Genic enhancers	Brain Substantia Nigra	brain
19	chr4:77112600-77114800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr4:77112600-77114800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:77112600-77115000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:77112600-77115200	Strong transcription	Aorta	Aorta
23	chr4:77112600-77115400	Genic enhancers	Gastric	stomach
24	chr4:77112600-77116200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr4:77112600-77117000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr4:77113000-77114800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:77113000-77114800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
28	chr4:77113000-77115400	Genic enhancers	Left Ventricle	heart
29	chr4:77113000-77115400	Genic enhancers	Pancreas	Pancrea
30	chr4:77113000-77117000	Strong transcription	Rectal Smooth Muscle	rectum
31	chr4:77113000-77117200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr4:77113000-77117400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:77113200-77115600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:77113200-77115600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
35	chr4:77113200-77115800	Strong transcription	Fetal Brain Female	brain
36	chr4:77113200-77116000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr4:77113200-77117000	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr4:77113200-77134000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:77113400-77114800	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr4:77113400-77115000	Strong transcription	HSMM	muscle
41	chr4:77113400-77115200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr4:77113400-77115200	Genic enhancers	Fetal Intestine Large	intestine
43	chr4:77113400-77115400	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr4:77113400-77116200	Genic enhancers	Brain Angular Gyrus	brain
45	chr4:77113400-77116800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr4:77113400-77117200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr4:77113600-77115000	Strong transcription	NHEK	skin
48	chr4:77113600-77115200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr4:77113600-77115400	Genic enhancers	Lung	lung
50	chr4:77113600-77115600	Strong transcription	A549	lung

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