Variant report

Variant	rs4676685
Chromosome Location	chr3:121347101-121347102
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12631824	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13067629	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1492177	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1574655	0.90[EUR][1000 genomes]
rs1574735	0.90[EUR][1000 genomes]
rs1873645	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1919552	0.89[EUR][1000 genomes]
rs1919557	0.90[EUR][1000 genomes]
rs1986874	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2001390	0.90[EUR][1000 genomes]
rs2001391	0.90[EUR][1000 genomes]
rs2070179	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2840143	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35295338	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3772127	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4478028	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4676684	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4676686	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6438645	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6791896	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6792659	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6794341	0.90[EUR][1000 genomes]
rs6794677	0.87[EUR][1000 genomes]
rs6802033	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6803839	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6807711	0.92[EUR][1000 genomes]
rs7375038	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7429247	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7430165	0.94[EUR][1000 genomes]
rs7611913	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7620842	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7646585	0.92[EUR][1000 genomes]
rs9289172	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9289173	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9809114	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9812411	0.92[EUR][1000 genomes]
rs9829053	0.88[EUR][1000 genomes]
rs9832267	0.92[EUR][1000 genomes]
rs9835182	0.90[EUR][1000 genomes]
rs9854052	0.92[EUR][1000 genomes]
rs9861992	0.92[EUR][1000 genomes]
rs9864907	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9876021	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1007522	chr3:121200563-121374051	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv999349	chr3:121253990-121360206	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv998740	chr3:121289499-121390271	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121341800-121348400	Weak transcription	Spleen	Spleen
2	chr3:121342000-121350000	Weak transcription	Liver	Liver
3	chr3:121343200-121348400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:121343400-121348000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr3:121343600-121348400	Weak transcription	Psoas Muscle	Psoas
6	chr3:121343800-121347200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:121343800-121347600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:121343800-121353000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:121344400-121347200	Weak transcription	Fetal Heart	heart
10	chr3:121344800-121347600	Weak transcription	Fetal Thymus	thymus
11	chr3:121345000-121347800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:121345000-121349400	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr3:121345600-121347200	Weak transcription	Primary B cells from cord blood	blood
14	chr3:121345600-121347400	Genic enhancers	Left Ventricle	heart
15	chr3:121345600-121348000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr3:121345600-121349600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:121345600-121376800	Weak transcription	Esophagus	oesophagus
18	chr3:121345800-121347600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr3:121345800-121347600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:121345800-121348600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr3:121345800-121350400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:121346000-121347600	Weak transcription	Primary T cells from cord blood	blood
23	chr3:121346000-121348800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr3:121346200-121347400	Enhancers	Right Atrium	heart
25	chr3:121346200-121350000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr3:121346200-121351600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr3:121346400-121349000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:121346400-121349800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr3:121346400-121351800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr3:121346400-121353200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr3:121346600-121348200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr3:121346600-121348400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr3:121346800-121348400	Weak transcription	GM12878-XiMat	blood
34	chr3:121346800-121351800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:121347000-121349200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr3:121347000-121349200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:121347000-121378000	Weak transcription	Right Ventricle	heart

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