Variant report

Variant	rs3851335
Chromosome Location	chr2:99794749-99794750
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99767297..99778137-chr2:99793643..99800044,16	MCF-7	breast:
2	chr2:99767233..99772869-chr2:99793831..99799744,8	K562	blood:
3	chr2:99792102..99795354-chr2:99796757..99799088,4	MCF-7	breast:
4	chr2:99785228..99787870-chr2:99793605..99795675,2	K562	blood:

Variant related genes	Relation type
ENSG00000135951	Chromatin interaction
ENSG00000144182	Chromatin interaction
ENSG00000273155	Chromatin interaction
ENSG00000185414	Chromatin interaction
ENSG00000241962	Chromatin interaction
ENSG00000158411	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10166721	1.00[AMR][1000 genomes]
rs11683472	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6542874	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs896885	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]

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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1013507	chr2:99729047-99861692	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv961842	chr2:99781138-99886836	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99772200-99795600	Weak transcription	Gastric	stomach
2	chr2:99772400-99795600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:99772400-99795600	Weak transcription	Small Intestine	intestine
4	chr2:99772400-99796400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:99772400-99796600	Weak transcription	Right Ventricle	heart
6	chr2:99772400-99796800	Weak transcription	Colonic Mucosa	Colon
7	chr2:99772400-99797000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:99772600-99795800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:99772600-99796600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:99772600-99796600	Weak transcription	Fetal Kidney	kidney
11	chr2:99772600-99797000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:99772800-99796400	Weak transcription	Fetal Heart	heart
13	chr2:99773000-99796400	Weak transcription	Fetal Brain Male	brain
14	chr2:99774000-99796200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:99774600-99795400	Weak transcription	K562	blood
16	chr2:99775000-99795600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:99775400-99795400	Weak transcription	Brain Substantia Nigra	brain
18	chr2:99776400-99795600	Weak transcription	Fetal Lung	lung
19	chr2:99776600-99795200	Weak transcription	Brain Angular Gyrus	brain
20	chr2:99779400-99795600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:99783000-99795600	Weak transcription	Stomach Mucosa	stomach
22	chr2:99784600-99795600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:99784600-99797000	Weak transcription	Ovary	ovary
24	chr2:99784800-99795600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:99785200-99795600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:99785200-99795600	Weak transcription	Pancreas	Pancrea
27	chr2:99785200-99796000	Weak transcription	Spleen	Spleen
28	chr2:99785200-99796400	Weak transcription	NHEK	skin
29	chr2:99785200-99796600	Weak transcription	HSMMtube	muscle
30	chr2:99785200-99797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:99785800-99795600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:99786000-99796000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:99786400-99795400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:99786400-99795600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:99786600-99795200	Weak transcription	Hela-S3	cervix
36	chr2:99786600-99795400	Weak transcription	Thymus	Thymus
37	chr2:99786600-99795600	Weak transcription	A549	lung
38	chr2:99786600-99796600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:99786600-99797000	Weak transcription	Aorta	Aorta
40	chr2:99786600-99797000	Weak transcription	Esophagus	oesophagus
41	chr2:99786600-99797000	Weak transcription	Lung	lung
42	chr2:99786800-99795200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:99787600-99795600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:99787600-99796400	Weak transcription	HMEC	breast
45	chr2:99787600-99797000	Weak transcription	Psoas Muscle	Psoas
46	chr2:99787800-99795600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:99787800-99795600	Weak transcription	Fetal Brain Female	brain
48	chr2:99787800-99795600	Weak transcription	NH-A	brain
49	chr2:99787800-99796400	Weak transcription	NHLF	lung
50	chr2:99787800-99796600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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