Variant report

Variant	rs4851165
Chromosome Location	chr2:99485421-99485422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99223862..99225617-chr2:99483733..99486358,2	MCF-7	breast:
2	chr2:99485026..99487433-chr2:100105196..100107704,3	MCF-7	breast:
3	chr2:99484412..99487919-chr2:99523957..99528531,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135945	Chromatin interaction
ENSG00000115446	Chromatin interaction
ENSG00000196872	Chromatin interaction
ENSG00000183513	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12616060	0.87[GIH][hapmap]
rs17022034	0.81[CHB][hapmap];0.83[EUR][1000 genomes]
rs17022036	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1983353	0.90[TSI][hapmap]
rs4851164	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851166	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66484268	0.82[EUR][1000 genomes]
rs67543009	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67650979	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67983743	0.82[EUR][1000 genomes]
rs72960707	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868921	0.87[GIH][hapmap]
rs925884	0.80[CHB][hapmap]

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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv582517	chr2:99440917-99487972	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99480400-99485800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:99481400-99486400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:99481400-99486400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:99481800-99487000	Weak transcription	Lung	lung
5	chr2:99482400-99485800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:99483000-99486000	Weak transcription	HSMM	muscle
7	chr2:99484000-99489000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:99484200-99486600	Flanking Active TSS	Hela-S3	cervix
9	chr2:99484400-99485600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:99484600-99485600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:99484600-99485800	Enhancers	Brain Anterior Caudate	brain
12	chr2:99484600-99486200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:99484600-99486400	Flanking Active TSS	NHEK	skin
14	chr2:99484800-99486200	Active TSS	Esophagus	oesophagus
15	chr2:99484800-99486200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:99484800-99486400	Flanking Active TSS	Fetal Intestine Large	intestine
17	chr2:99485000-99485800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:99485000-99485800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:99485000-99486000	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr2:99485000-99486200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:99485000-99486200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:99485000-99486400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:99485000-99486400	Active TSS	Rectal Smooth Muscle	rectum
24	chr2:99485000-99486800	Active TSS	Duodenum Mucosa	Duodenum
25	chr2:99485000-99488200	Enhancers	Fetal Muscle Leg	muscle
26	chr2:99485200-99486000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:99485200-99486200	Flanking Active TSS	HMEC	breast
28	chr2:99485200-99487400	Weak transcription	Brain Angular Gyrus	brain
29	chr2:99485200-99487800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:99485400-99485600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr2:99485400-99485600	Flanking Active TSS	Stomach Mucosa	stomach
32	chr2:99485400-99485800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
33	chr2:99485400-99485800	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr2:99485400-99486000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:99485400-99486200	Flanking Bivalent TSS/Enh	HepG2	liver
36	chr2:99485400-99486400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr2:99485400-99486400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:99485400-99486400	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr2:99485400-99486400	Active TSS	Gastric	stomach
40	chr2:99485400-99486600	Active TSS	Colonic Mucosa	Colon
41	chr2:99485400-99486600	Flanking Active TSS	Pancreas	Pancrea
42	chr2:99485400-99486800	Enhancers	Placenta	Placenta
43	chr2:99485400-99487400	Enhancers	Fetal Muscle Trunk	muscle

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