Variant report

Variant	rs283470
Chromosome Location	chr2:233656918-233656919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10210953	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1022329	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10427328	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1078323	0.96[CEU][hapmap]
rs1083522	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs10933406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1104764	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs11688166	0.92[CEU][hapmap]
rs11689851	0.92[CEU][hapmap]
rs11893358	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12105766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12619195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12999865	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13007579	0.93[CEU][hapmap]
rs13024330	0.92[CEU][hapmap]
rs13029336	0.83[JPT][hapmap]
rs1515961	0.83[JPT][hapmap]
rs17164	0.92[CEU][hapmap]
rs1973675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2289911	0.93[CEU][hapmap]
rs2293780	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2344613	0.93[CEU][hapmap]
rs2675954	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2675968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs283465	0.86[EUR][1000 genomes]
rs283473	0.83[JPT][hapmap]
rs283487	0.80[EUR][1000 genomes]
rs4973563	0.93[CEU][hapmap]
rs4973564	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs62193269	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6704763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6710294	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6717048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6733495	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6739794	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs709937	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs737027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs748002	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs778341	0.95[YRI][hapmap]
rs778370	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs921055	0.92[CEU][hapmap]
rs938569	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs974321	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233631600-233659200	Weak transcription	Psoas Muscle	Psoas
2	chr2:233641400-233662400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:233642000-233667200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:233648600-233664000	Strong transcription	Fetal Muscle Trunk	muscle
5	chr2:233648800-233657400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:233648800-233666800	Strong transcription	HSMM	muscle
7	chr2:233648800-233668000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:233649000-233680600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:233649200-233663000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:233649200-233665800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:233649400-233663000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:233649400-233663400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:233649400-233665400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:233649400-233666000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:233649400-233667600	Strong transcription	Fetal Thymus	thymus
16	chr2:233649600-233663200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:233649600-233666800	Strong transcription	HepG2	liver
18	chr2:233649800-233659000	Strong transcription	Fetal Lung	lung
19	chr2:233649800-233666400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:233649800-233667000	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:233650000-233662200	Strong transcription	Fetal Brain Female	brain
22	chr2:233650000-233662800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:233650000-233663400	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:233650800-233664200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:233651000-233662400	Strong transcription	Left Ventricle	heart
26	chr2:233651200-233662200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:233651200-233662200	Strong transcription	Osteobl	bone
28	chr2:233651200-233663400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:233651200-233664600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:233651200-233668000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:233651400-233657000	Strong transcription	NHEK	skin
32	chr2:233651400-233662800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:233651400-233665600	Strong transcription	Primary hematopoietic stem cells	blood
34	chr2:233651400-233668000	Strong transcription	Liver	Liver
35	chr2:233651600-233663400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:233651800-233657800	Strong transcription	A549	lung
37	chr2:233651800-233658400	Strong transcription	NH-A	brain
38	chr2:233651800-233661400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:233651800-233661400	Strong transcription	Right Ventricle	heart
40	chr2:233651800-233661800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:233651800-233662200	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr2:233651800-233662400	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr2:233651800-233662600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:233651800-233663200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:233651800-233663200	Strong transcription	Fetal Muscle Leg	muscle
46	chr2:233651800-233663200	Strong transcription	Placenta	Placenta
47	chr2:233651800-233663400	Strong transcription	GM12878-XiMat	blood
48	chr2:233651800-233664000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:233651800-233664200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:233651800-233665600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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