Variant report

Variant	rs3020269
Chromosome Location	chr8:6294969-6294970
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6286039..6288419-chr8:6293741..6296990,3	K562	blood:
2	chr8:6286159..6289308-chr8:6294471..6296990,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs2247108	1.00[AMR][1000 genomes]
rs2916721	1.00[AMR][1000 genomes]
rs2916744	1.00[AMR][1000 genomes]
rs2916751	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2916757	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2916758	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2916759	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2916760	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2916761	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2916762	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2916763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2916764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2916767	1.00[AMR][1000 genomes]
rs2916768	1.00[AMR][1000 genomes]
rs2916769	1.00[AMR][1000 genomes]
rs2920667	1.00[AMR][1000 genomes]
rs2920682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2920683	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2920684	1.00[AMR][1000 genomes]
rs2920687	1.00[AMR][1000 genomes]
rs2922827	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2922828	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2922830	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2922831	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2922834	1.00[AMR][1000 genomes]
rs2922838	1.00[AMR][1000 genomes]
rs2979640	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2979641	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2979642	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2979643	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2979644	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2979646	1.00[AMR][1000 genomes]
rs2979657	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2979660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3020267	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3020268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3020271	1.00[AMR][1000 genomes]
rs3020279	1.00[AMR][1000 genomes]
rs35551093	1.00[AMR][1000 genomes]
rs59254998	1.00[AMR][1000 genomes]
rs73661727	1.00[AMR][1000 genomes]
rs7832063	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv949501	chr8:6081704-6303511	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1024103	chr8:6124125-6303511	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1026950	chr8:6127991-6303511	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1025734	chr8:6128828-6303511	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1022940	chr8:6128828-6304814	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1028552	chr8:6129221-6303511	Weak transcription Strong transcription Active TSS Enhancers 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	6 gene(s)	inside rSNPs	diseases
12	nsv1026004	chr8:6144798-6307692	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv539431	chr8:6144798-6307692	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv933107	chr8:6173244-6312807	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv482828	chr8:6182711-6355710	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv890055	chr8:6237397-6351252	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv531468	chr8:6248682-6309194	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
19	nsv523681	chr8:6279511-6296550	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
21	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 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	chr8:6265000-6339200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:6265200-6302200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:6265400-6303800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:6267600-6302400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:6270200-6295000	Weak transcription	Fetal Brain Female	brain
6	chr8:6273600-6302800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:6274400-6300200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:6278600-6305400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:6281800-6302200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:6282000-6300600	Weak transcription	Fetal Heart	heart
11	chr8:6282800-6313400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:6283400-6295000	Weak transcription	NHLF	lung
13	chr8:6283400-6299400	Weak transcription	NHDF-Ad	bronchial
14	chr8:6283600-6295000	Weak transcription	Placenta	Placenta
15	chr8:6283800-6300600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:6286400-6299000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr8:6287000-6301600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:6287200-6309200	Weak transcription	Fetal Brain Male	brain
19	chr8:6287600-6295000	Weak transcription	Colonic Mucosa	Colon
20	chr8:6287600-6306600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr8:6287600-6307600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:6287600-6344400	Weak transcription	Small Intestine	intestine
23	chr8:6287800-6300400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:6287800-6304800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:6288000-6295000	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:6288000-6300200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:6288000-6300600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:6288000-6301000	Weak transcription	Psoas Muscle	Psoas
29	chr8:6288400-6304400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr8:6288600-6295000	Weak transcription	Pancreas	Pancrea
31	chr8:6288600-6295200	Weak transcription	Brain Substantia Nigra	brain
32	chr8:6289000-6308000	Strong transcription	Dnd41	blood
33	chr8:6289200-6296200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:6289200-6304000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:6289200-6306200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr8:6289200-6306400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:6289400-6301000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:6289400-6303400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:6289400-6306600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:6289600-6296800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:6289600-6303800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr8:6290000-6305000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr8:6290400-6303000	Strong transcription	Thymus	Thymus
44	chr8:6290800-6295000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:6290800-6298000	Strong transcription	Fetal Intestine Small	intestine
46	chr8:6291800-6298400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:6291800-6300000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr8:6291800-6305800	Weak transcription	Stomach Mucosa	stomach
49	chr8:6292000-6295000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:6292000-6295000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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