Variant report

Variant	rs16865234
Chromosome Location	chr2:178284107-178284108
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178199860..178200463-chr2:178283792..178284347,2	MCF-7	breast:
2	chr2:178129118..178131059-chr2:178283315..178285354,2	K562	blood:
3	chr2:178133439..178136379-chr2:178282371..178284754,2	K562	blood:
4	chr2:178277628..178281147-chr2:178283035..178284877,3	K562	blood:
5	chr2:178203312..178206215-chr2:178282887..178284406,2	K562	blood:

Variant related genes	Relation type
ENSG00000116044	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1046370	0.83[AMR][1000 genomes]
rs10497507	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865184	0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16865187	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16865191	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16865226	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865279	0.93[AFR][1000 genomes];1.00[AMR][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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178258800-178285000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:178258800-178294200	Weak transcription	Thymus	Thymus
3	chr2:178260400-178285600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:178263400-178291800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:178264200-178291600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:178265600-178287000	Weak transcription	K562	blood
7	chr2:178270400-178294400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:178271800-178291600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:178272400-178285600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:178272800-178295200	Weak transcription	Left Ventricle	heart
11	chr2:178273000-178288800	Weak transcription	GM12878-XiMat	blood
12	chr2:178273400-178286600	Weak transcription	HSMMtube	muscle
13	chr2:178273400-178288600	Weak transcription	Primary T cells from cord blood	blood
14	chr2:178274600-178291800	Weak transcription	Primary B cells from cord blood	blood
15	chr2:178276400-178291400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:178276800-178289800	Weak transcription	Fetal Intestine Large	intestine
17	chr2:178276800-178294400	Weak transcription	Psoas Muscle	Psoas
18	chr2:178277400-178291800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:178278000-178285400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:178278200-178285000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:178279600-178294400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:178279800-178284200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:178280200-178291600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:178280400-178296000	Weak transcription	Small Intestine	intestine
25	chr2:178280800-178284600	Enhancers	Colon Smooth Muscle	Colon
26	chr2:178280800-178294400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:178281000-178285000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:178281200-178285400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr2:178281200-178289400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:178281200-178291600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:178281200-178292200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:178281800-178291800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:178282200-178284200	Enhancers	HUVEC	blood vessel
34	chr2:178282200-178284400	Enhancers	Rectal Smooth Muscle	rectum
35	chr2:178282600-178284800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:178282800-178284200	Enhancers	Fetal Lung	lung
37	chr2:178282800-178284400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:178282800-178284400	Enhancers	Adipose Nuclei	Adipose
39	chr2:178282800-178284600	Enhancers	Dnd41	blood
40	chr2:178282800-178284800	Enhancers	NHEK	skin
41	chr2:178282800-178287200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:178283000-178284600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:178283000-178284600	Enhancers	HSMM	muscle
44	chr2:178283000-178284600	Enhancers	Osteobl	bone
45	chr2:178283000-178284800	Enhancers	Hela-S3	cervix
46	chr2:178283000-178285000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:178283000-178294600	Weak transcription	Fetal Kidney	kidney
48	chr2:178283200-178286600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:178283600-178284400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:178283600-178284800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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