Variant report

Variant	rs3820647
Chromosome Location	chr1:226911679-226911680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226907282..226909315-chr1:226911559..226915839,4	K562	blood:
2	chr1:226911625..226913719-chr1:226914585..226916735,2	K562	blood:
3	chr1:226898990..226899508-chr1:226911625..226912178,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1124377	0.80[AMR][1000 genomes]
rs12095028	0.82[ASN][1000 genomes]
rs16846351	0.88[CHB][hapmap]
rs16846357	0.82[ASN][1000 genomes]
rs16846378	0.88[CHB][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16846452	0.90[AMR][1000 genomes]
rs16846458	0.86[JPT][hapmap];0.90[AMR][1000 genomes]
rs16846461	0.90[AMR][1000 genomes]
rs16846464	0.90[AMR][1000 genomes]
rs16846466	0.83[AMR][1000 genomes]
rs3754398	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3754399	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3754400	0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3754401	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3754402	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3754403	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3754406	0.88[CHB][hapmap];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3754407	0.88[CHB][hapmap];0.82[MEX][hapmap];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3754413	0.89[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754417	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3768388	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3768389	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3768397	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3768400	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3768416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3820641	0.88[CHB][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs41440951	0.82[MEX][hapmap]
rs4653461	0.82[ASN][1000 genomes]
rs4653464	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4653769	1.00[JPT][hapmap]
rs56095953	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58091460	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59173465	0.83[AMR][1000 genomes]
rs7524854	0.88[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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226891800-226924800	Weak transcription	Aorta	Aorta
2	chr1:226893400-226918800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:226899600-226911800	Weak transcription	Small Intestine	intestine
4	chr1:226904000-226911800	Genic enhancers	Primary T cells fromperipheralblood	blood
5	chr1:226909400-226913800	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:226909600-226912000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr1:226909600-226919000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:226909800-226912000	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:226909800-226912200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:226909800-226912800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr1:226909800-226912800	Strong transcription	Dnd41	blood
12	chr1:226909800-226913600	Genic enhancers	Spleen	Spleen
13	chr1:226909800-226914000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:226909800-226918800	Genic enhancers	Fetal Thymus	thymus
15	chr1:226909800-226919000	Genic enhancers	Primary B cells from cord blood	blood
16	chr1:226909800-226924200	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr1:226910000-226911800	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
18	chr1:226910000-226912200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:226910000-226912600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:226910000-226912800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr1:226910000-226912800	Genic enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:226910000-226913200	Genic enhancers	Thymus	Thymus
23	chr1:226910000-226913800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr1:226910000-226916000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:226910000-226925000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
26	chr1:226910200-226911800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr1:226910200-226912600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:226910200-226912600	Enhancers	Right Ventricle	heart
29	chr1:226910200-226912800	Enhancers	Placenta	Placenta
30	chr1:226910200-226913000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr1:226910200-226913400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:226910200-226916800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr1:226910200-226918000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
34	chr1:226910200-226922400	Weak transcription	Fetal Brain Male	brain
35	chr1:226910400-226911800	Enhancers	Left Ventricle	heart
36	chr1:226910400-226912000	Genic enhancers	GM12878-XiMat	blood
37	chr1:226910400-226912200	Genic enhancers	Brain Anterior Caudate	brain
38	chr1:226910400-226912200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
39	chr1:226910400-226912600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:226910400-226912600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:226910400-226912800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:226910400-226912800	Enhancers	Stomach Mucosa	stomach
43	chr1:226910400-226913000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr1:226910400-226913600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:226910600-226912200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr1:226910600-226912800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr1:226910600-226913200	Genic enhancers	Fetal Muscle Leg	muscle
48	chr1:226910600-226914000	Genic enhancers	Lung	lung
49	chr1:226910600-226917000	Enhancers	Right Atrium	heart
50	chr1:226910800-226911800	Enhancers	K562	blood

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