Variant report

Variant	rs16846351
Chromosome Location	chr1:226846712-226846713
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226845713..226848053-chr1:226861534..226863406,2	K562	blood:
2	chr1:226838115..226840553-chr1:226843836..226846958,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228382	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12095028	0.91[ASN][1000 genomes]
rs16846357	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16846378	1.00[CHB][hapmap];0.85[CHD][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16846413	1.00[AFR][1000 genomes]
rs16846452	1.00[AFR][1000 genomes]
rs16846458	1.00[AFR][1000 genomes]
rs16846461	1.00[AFR][1000 genomes]
rs16846464	1.00[AFR][1000 genomes]
rs16846466	1.00[AFR][1000 genomes]
rs3754398	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3754399	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3754400	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3754401	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3754402	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3754403	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3754406	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs3754407	1.00[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.91[ASN][1000 genomes]
rs3754409	1.00[ASW][hapmap]
rs3754413	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs3768388	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3768389	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3768397	0.91[ASN][1000 genomes]
rs3768400	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3768416	0.88[CHB][hapmap];1.00[AFR][1000 genomes]
rs3820641	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3820647	0.88[CHB][hapmap]
rs41440951	1.00[ASW][hapmap];0.85[MEX][hapmap]
rs4653461	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs4653464	0.88[CHB][hapmap];1.00[AFR][1000 genomes]
rs4653763	1.00[AFR][1000 genomes]
rs56095953	1.00[AFR][1000 genomes]
rs58091460	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59173465	1.00[AFR][1000 genomes]
rs60932168	1.00[AFR][1000 genomes]
rs7524854	0.83[ASN][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	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv873235	chr1:226819073-226851963	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226836400-226847200	Weak transcription	Ovary	ovary
2	chr1:226836800-226856200	Enhancers	Left Ventricle	heart
3	chr1:226837000-226849800	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr1:226837400-226848600	Enhancers	Right Atrium	heart
5	chr1:226837400-226856200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:226837400-226856600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr1:226837400-226856600	Enhancers	Brain Substantia Nigra	brain
8	chr1:226838800-226848200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:226839200-226846800	Enhancers	Spleen	Spleen
10	chr1:226839400-226856200	Enhancers	Fetal Muscle Leg	muscle
11	chr1:226840600-226851800	Enhancers	Adipose Nuclei	Adipose
12	chr1:226840600-226852600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:226840600-226852800	Enhancers	Primary hematopoietic stem cells	blood
14	chr1:226841000-226847000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:226841000-226847000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:226841000-226847200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:226841400-226847200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:226841800-226850200	Enhancers	Psoas Muscle	Psoas
19	chr1:226841800-226856200	Enhancers	Brain Angular Gyrus	brain
20	chr1:226841800-226860600	Enhancers	Brain Cingulate Gyrus	brain
21	chr1:226842000-226848800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr1:226842200-226849200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:226842200-226850600	Enhancers	Pancreas	Pancrea
24	chr1:226842200-226852400	Enhancers	Esophagus	oesophagus
25	chr1:226842800-226848000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr1:226843200-226850200	Genic enhancers	Fetal Thymus	thymus
27	chr1:226843400-226848800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:226843400-226849800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:226843400-226850400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:226843400-226850400	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr1:226843600-226847200	Enhancers	Stomach Mucosa	stomach
32	chr1:226843600-226847400	Weak transcription	Liver	Liver
33	chr1:226843600-226848200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:226843600-226848400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:226843600-226849000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:226843600-226849600	Genic enhancers	Primary B cells from cord blood	blood
37	chr1:226843800-226846800	Enhancers	HMEC	breast
38	chr1:226843800-226854400	Enhancers	Brain Hippocampus Middle	brain
39	chr1:226844000-226846800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:226844200-226850400	Genic enhancers	Primary T cells fromperipheralblood	blood
41	chr1:226844400-226847200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:226844400-226850600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:226844600-226847400	Weak transcription	Fetal Heart	heart
44	chr1:226844600-226848200	Enhancers	GM12878-XiMat	blood
45	chr1:226844800-226846800	Weak transcription	Colonic Mucosa	Colon
46	chr1:226844800-226847600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr1:226844800-226849600	Weak transcription	Hela-S3	cervix
48	chr1:226844800-226852400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:226845000-226846800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:226845000-226846800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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