Variant report

Variant	rs2807863
Chromosome Location	chr1:221067103-221067104
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2050525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2484697	0.81[EUR][1000 genomes]
rs2738749	0.84[YRI][hapmap]
rs2738750	0.85[AFR][1000 genomes]
rs2784251	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2784253	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2784255	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2784270	0.81[EUR][1000 genomes]
rs2784271	0.87[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2784272	0.87[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2784274	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2807859	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2807860	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2807864	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2807865	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2807867	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2807869	0.81[EUR][1000 genomes]
rs867027	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs868058	0.84[YRI][hapmap]
rs945448	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs949839	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs949840	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1798350	chr1:221020278-221069740	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221064400-221067600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:221065600-221067200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
3	chr1:221066200-221067200	Bivalent Enhancer	Brain Substantia Nigra	brain
4	chr1:221066200-221068000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
5	chr1:221066200-221068000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
6	chr1:221066200-221070000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:221066400-221067200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:221066400-221067200	Enhancers	Pancreas	Pancrea
9	chr1:221066400-221067200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
10	chr1:221066400-221067400	Bivalent Enhancer	Fetal Thymus	thymus
11	chr1:221066400-221067400	Enhancers	Gastric	stomach
12	chr1:221066400-221068000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
13	chr1:221066600-221067200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
14	chr1:221066600-221067600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:221066600-221067800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
16	chr1:221066600-221068200	Active TSS	Right Atrium	heart
17	chr1:221066800-221067200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:221066800-221067200	Bivalent Enhancer	Liver	Liver
19	chr1:221066800-221067200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
20	chr1:221066800-221067200	Enhancers	Right Ventricle	heart
21	chr1:221066800-221067200	Bivalent Enhancer	HUVEC	blood vessel
22	chr1:221066800-221067400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr1:221067000-221067200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
24	chr1:221067000-221067200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:221067000-221067200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:221067000-221067200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:221067000-221067200	Bivalent/Poised TSS	Fetal Heart	heart
28	chr1:221067000-221067200	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr1:221067000-221067200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
30	chr1:221067000-221067200	Bivalent Enhancer	Stomach Mucosa	stomach
31	chr1:221067000-221067200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
32	chr1:221067000-221067400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
33	chr1:221067000-221067400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr1:221067000-221067400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
35	chr1:221067000-221067400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
36	chr1:221067000-221067400	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr1:221067000-221067400	Bivalent Enhancer	Fetal Intestine Large	intestine
38	chr1:221067000-221067400	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr1:221067000-221067600	Enhancers	Spleen	Spleen
40	chr1:221067000-221067800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:221067000-221067800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
42	chr1:221067000-221067800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
43	chr1:221067000-221068000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:221067000-221068000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:221067000-221068000	Bivalent/Poised TSS	NHDF-Ad	bronchial
46	chr1:221067000-221068200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr1:221067000-221068400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr1:221067000-221068400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain

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