Variant report

Variant	rs4073062
Chromosome Location	chr1:221956086-221956087
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10218652	0.83[EUR][1000 genomes]
rs10495179	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10779456	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863653	0.81[EUR][1000 genomes]
rs10863654	0.83[EUR][1000 genomes]
rs10863655	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863659	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11118848	0.85[TSI][hapmap]
rs11118854	0.81[EUR][1000 genomes]
rs11118857	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118859	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118860	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11118861	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118862	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11118864	0.87[EUR][1000 genomes]
rs11118865	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11118866	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12070192	0.83[EUR][1000 genomes]
rs12076234	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12082239	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12083486	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12127111	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12145457	0.87[EUR][1000 genomes]
rs12145486	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17010720	0.83[EUR][1000 genomes]
rs3934724	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4313407	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4433402	0.83[EUR][1000 genomes]
rs4589119	0.85[TSI][hapmap]
rs4623704	0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55830234	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6664523	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6687354	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7516292	0.81[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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221948800-221958200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:221949400-221958000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:221949800-221958200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr1:221950000-221956800	Enhancers	Fetal Thymus	thymus
5	chr1:221951800-221958000	Enhancers	Primary B cells from cord blood	blood
6	chr1:221952000-221958000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:221953200-221956200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:221953200-221956600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:221953200-221958000	Enhancers	GM12878-XiMat	blood
10	chr1:221953400-221956200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:221953600-221956600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:221953800-221956400	Enhancers	Adipose Nuclei	Adipose
13	chr1:221954000-221966400	Weak transcription	Spleen	Spleen
14	chr1:221954600-221956800	Enhancers	Thymus	Thymus
15	chr1:221955200-221956400	Enhancers	Dnd41	blood
16	chr1:221955200-221956800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:221955200-221958000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:221955400-221956600	Enhancers	Primary T cells from cord blood	blood
19	chr1:221955400-221956800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:221955400-221958000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:221955600-221956200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:221955600-221956800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:221955600-221958200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr1:221955600-221958400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:221955800-221956200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:221955800-221956400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:221955800-221956400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:221955800-221956400	Enhancers	HSMM	muscle
29	chr1:221955800-221956800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr1:221955800-221958000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:221955800-221958200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr1:221956000-221956200	Enhancers	Brain Substantia Nigra	brain
33	chr1:221956000-221956200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr1:221956000-221956400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr1:221956000-221956600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr1:221956000-221956800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:221956000-221956800	Enhancers	Brain Hippocampus Middle	brain
38	chr1:221956000-221958200	Enhancers	Primary B cells from peripheral blood	blood
39	chr1:221956000-221958200	Enhancers	Primary hematopoietic stem cells	blood
40	chr1:221956000-221958200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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