Variant report

Variant	rs16846378
Chromosome Location	chr1:226872143-226872144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226870709..226873469-chr1:226876259..226878342,2	K562	blood:
2	chr1:226871969..226874742-chr1:226876259..226878047,2	K562	blood:
3	chr1:226864917..226867492-chr1:226868629..226873346,4	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12095028	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16846351	1.00[CHB][hapmap];0.85[CHD][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16846357	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754399	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754400	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754402	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754403	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754406	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754407	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754409	0.89[GIH][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap]
rs3754413	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3768388	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3768389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3768397	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3768400	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3768416	0.88[CHB][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3820641	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3820647	0.88[CHB][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs41440951	1.00[MEX][hapmap]
rs4653461	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4653464	0.88[CHB][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4653765	0.95[GIH][hapmap];0.82[MEX][hapmap]
rs4653766	0.95[GIH][hapmap]
rs56095953	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58091460	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7524854	0.93[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	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
2	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226865600-226878000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:226866400-226874800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:226866800-226874200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:226867800-226874200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:226868000-226876000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr1:226868200-226873400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:226868200-226877400	Enhancers	Left Ventricle	heart
8	chr1:226868200-226884600	Enhancers	Brain Substantia Nigra	brain
9	chr1:226868400-226872200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr1:226868400-226872200	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr1:226868400-226873200	Enhancers	Spleen	Spleen
12	chr1:226868400-226874200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr1:226868400-226876000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr1:226868400-226876800	Genic enhancers	Fetal Thymus	thymus
15	chr1:226868400-226876800	Genic enhancers	Thymus	Thymus
16	chr1:226868400-226877400	Enhancers	Psoas Muscle	Psoas
17	chr1:226868400-226880600	Enhancers	Brain Anterior Caudate	brain
18	chr1:226868400-226881200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:226868400-226881400	Enhancers	Brain Angular Gyrus	brain
20	chr1:226868400-226881800	Enhancers	Fetal Muscle Leg	muscle
21	chr1:226868600-226872200	Enhancers	Primary B cells from cord blood	blood
22	chr1:226868600-226873000	Weak transcription	Colonic Mucosa	Colon
23	chr1:226868600-226874400	Weak transcription	Brain Germinal Matrix	brain
24	chr1:226868600-226874600	Weak transcription	Fetal Intestine Large	intestine
25	chr1:226868600-226874600	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:226868600-226875800	Enhancers	Brain Hippocampus Middle	brain
27	chr1:226868600-226876400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:226868600-226877200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:226868600-226878000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:226868600-226881200	Enhancers	Adipose Nuclei	Adipose
31	chr1:226868600-226884800	Weak transcription	Fetal Kidney	kidney
32	chr1:226868600-226888200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:226868800-226874400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr1:226868800-226874400	Weak transcription	Aorta	Aorta
35	chr1:226868800-226875200	Weak transcription	Small Intestine	intestine
36	chr1:226868800-226876000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:226868800-226878000	Weak transcription	NHEK	skin
38	chr1:226869000-226874200	Weak transcription	Fetal Intestine Small	intestine
39	chr1:226869000-226874400	Weak transcription	NHDF-Ad	bronchial
40	chr1:226869000-226875200	Weak transcription	Fetal Heart	heart
41	chr1:226869000-226878000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:226869000-226880200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr1:226869000-226881800	Enhancers	Colon Smooth Muscle	Colon
44	chr1:226869000-226884200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:226869000-226884200	Weak transcription	NHLF	lung
46	chr1:226869000-226884400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:226869200-226873800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:226869200-226876000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:226869400-226878000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
50	chr1:226869400-226878400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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