Variant report

Variant	rs6999736
Chromosome Location	chr8:20350457-20350458
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1016646	1.00[AFR][1000 genomes]
rs10464996	1.00[AFR][1000 genomes]
rs10503682	1.00[AFR][1000 genomes]
rs11992628	0.97[ASN][1000 genomes]
rs12056831	1.00[AFR][1000 genomes]
rs1383248	1.00[AFR][1000 genomes]
rs17092434	1.00[AFR][1000 genomes]
rs17092492	0.83[EUR][1000 genomes]
rs17092502	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17092511	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17092733	1.00[AFR][1000 genomes]
rs17412582	1.00[AFR][1000 genomes]
rs17412734	1.00[AFR][1000 genomes]
rs17412740	1.00[AFR][1000 genomes]
rs17419795	1.00[AFR][1000 genomes]
rs17420434	1.00[AFR][1000 genomes]
rs17420455	1.00[AFR][1000 genomes]
rs17490805	1.00[AFR][1000 genomes]
rs17490847	1.00[AFR][1000 genomes]
rs17491153	1.00[AFR][1000 genomes]
rs17492344	1.00[AFR][1000 genomes]
rs17492862	1.00[AFR][1000 genomes]
rs1947258	1.00[AFR][1000 genomes]
rs1979430	1.00[AFR][1000 genomes]
rs1979431	1.00[AFR][1000 genomes]
rs1979432	1.00[AFR][1000 genomes]
rs2005365	1.00[AFR][1000 genomes]
rs2086886	1.00[AFR][1000 genomes]
rs35673104	1.00[AFR][1000 genomes]
rs4601325	1.00[AFR][1000 genomes]
rs4610764	1.00[AFR][1000 genomes]
rs4921708	1.00[AFR][1000 genomes]
rs4921713	1.00[AFR][1000 genomes]
rs4921718	0.80[EUR][1000 genomes]
rs4922161	1.00[AFR][1000 genomes]
rs4922175	1.00[AFR][1000 genomes]
rs4922177	1.00[AFR][1000 genomes]
rs4922178	1.00[AFR][1000 genomes]
rs4922179	1.00[AFR][1000 genomes]
rs4922180	1.00[AFR][1000 genomes]
rs4922181	1.00[AFR][1000 genomes]
rs4922182	1.00[AFR][1000 genomes]
rs4922183	1.00[AFR][1000 genomes]
rs4922187	1.00[AFR][1000 genomes]
rs4922189	1.00[AFR][1000 genomes]
rs4922195	0.80[EUR][1000 genomes]
rs4922200	1.00[AFR][1000 genomes]
rs4922210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56157706	1.00[AFR][1000 genomes]
rs56171374	1.00[AFR][1000 genomes]
rs6586910	1.00[AFR][1000 genomes]
rs6989281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994255	1.00[AFR][1000 genomes]
rs6999584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71512703	0.94[ASN][1000 genomes]
rs73609321	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73611636	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7465534	1.00[AFR][1000 genomes]
rs7830125	1.00[AFR][1000 genomes]
rs950511	1.00[AFR][1000 genomes]
rs999746	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv469890	chr8:20239114-20445136	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv482881	chr8:20239114-20445136	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv916454	chr8:20342959-20531705	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20348600-20354600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr8:20348800-20353400	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr8:20349000-20350600	Enhancers	Primary T cells fromperipheralblood	blood
4	chr8:20349000-20353200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:20349200-20350600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:20349200-20352600	Enhancers	Thymus	Thymus
7	chr8:20349400-20350800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:20349400-20353000	Enhancers	Fetal Thymus	thymus
9	chr8:20349800-20351800	Enhancers	Dnd41	blood
10	chr8:20349800-20353400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:20350000-20350600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr8:20350000-20350600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:20350000-20351000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:20350000-20351400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:20350000-20352600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr8:20350200-20350600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr8:20350200-20350800	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr8:20350200-20351000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:20350200-20351200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:20350200-20351800	Enhancers	Primary hematopoietic stem cells	blood
21	chr8:20350400-20350800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr8:20350400-20350800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr8:20350400-20351200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:20350400-20352000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:20350400-20352400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:20350400-20352600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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