Variant report

Variant	rs2247108
Chromosome Location	chr8:6270920-6270921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6269409..6272361-chr8:6283113..6285800,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10099316	0.93[AFR][1000 genomes]
rs10113656	0.93[AFR][1000 genomes]
rs1373313	0.93[AFR][1000 genomes]
rs2120479	0.93[AFR][1000 genomes]
rs2120480	0.93[AFR][1000 genomes]
rs2120481	0.89[AFR][1000 genomes]
rs2440435	0.93[AFR][1000 genomes]
rs2440436	0.84[AFR][1000 genomes]
rs2440437	0.91[AFR][1000 genomes]
rs2440438	0.87[AFR][1000 genomes]
rs2440449	0.85[AFR][1000 genomes]
rs2442539	0.93[AFR][1000 genomes]
rs2442540	0.93[AFR][1000 genomes]
rs2442545	0.93[AFR][1000 genomes]
rs2442547	0.87[AFR][1000 genomes]
rs2515415	0.93[AFR][1000 genomes]
rs2515417	0.93[AFR][1000 genomes]
rs2515419	0.93[AFR][1000 genomes]
rs2515453	0.93[AFR][1000 genomes]
rs2515455	0.93[AFR][1000 genomes]
rs2515470	0.93[AFR][1000 genomes]
rs2916721	1.00[AMR][1000 genomes]
rs2916744	1.00[AMR][1000 genomes]
rs2916751	1.00[AMR][1000 genomes]
rs2916757	1.00[AMR][1000 genomes]
rs2916758	1.00[AMR][1000 genomes]
rs2916759	1.00[AMR][1000 genomes]
rs2916760	1.00[AMR][1000 genomes]
rs2916761	1.00[AMR][1000 genomes]
rs2916762	1.00[AMR][1000 genomes]
rs2916763	1.00[AMR][1000 genomes]
rs2916764	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[AMR][1000 genomes]
rs2920683	1.00[AMR][1000 genomes]
rs2920684	1.00[AMR][1000 genomes]
rs2920687	1.00[AMR][1000 genomes]
rs2922827	1.00[AMR][1000 genomes]
rs2922828	1.00[AMR][1000 genomes]
rs2922830	1.00[AMR][1000 genomes]
rs2922831	1.00[AMR][1000 genomes]
rs2922834	1.00[AMR][1000 genomes]
rs2922838	1.00[AMR][1000 genomes]
rs2979640	1.00[AMR][1000 genomes]
rs2979641	1.00[AMR][1000 genomes]
rs2979642	1.00[AMR][1000 genomes]
rs2979643	1.00[AMR][1000 genomes]
rs2979644	1.00[AMR][1000 genomes]
rs2979646	1.00[AMR][1000 genomes]
rs2979657	1.00[AMR][1000 genomes]
rs2979660	1.00[AMR][1000 genomes]
rs3020267	1.00[AMR][1000 genomes]
rs3020268	1.00[AMR][1000 genomes]
rs3020269	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:26 , 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	nsv1018782	chr8:5984032-6284373	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv890041	chr8:6084048-6274963	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers 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	7 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv527005	chr8:6129051-6287170	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	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
15	nsv1021800	chr8:6144798-6286635	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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
19	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
20	nsv1018882	chr8:6204857-6289937	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	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
22	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
23	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
24	nsv1033935	chr8:6262180-6275753	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	nsv524404	chr8:6263083-6291485	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	nsv1030323	chr8:6268228-6279511	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 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	chr8:6265000-6272600	Weak transcription	Esophagus	oesophagus
2	chr8:6265000-6272600	Weak transcription	Gastric	stomach
3	chr8:6265000-6286600	Weak transcription	Small Intestine	intestine
4	chr8:6265000-6339200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:6265200-6281800	Weak transcription	Right Atrium	heart
6	chr8:6265200-6281800	Weak transcription	Right Ventricle	heart
7	chr8:6265200-6282600	Weak transcription	Colonic Mucosa	Colon
8	chr8:6265200-6302200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:6265400-6272600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:6265400-6278200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:6265400-6287400	Weak transcription	Psoas Muscle	Psoas
12	chr8:6265400-6303800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:6265600-6276400	Weak transcription	Fetal Brain Male	brain
14	chr8:6265600-6290000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:6266000-6275800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:6266000-6275800	Strong transcription	Fetal Muscle Leg	muscle
17	chr8:6266600-6271000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:6266600-6271000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:6266600-6271000	Strong transcription	Fetal Intestine Large	intestine
20	chr8:6266600-6271000	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:6266600-6271200	Strong transcription	Fetal Thymus	thymus
22	chr8:6266600-6275200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:6266800-6271000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr8:6266800-6271000	Strong transcription	Brain Anterior Caudate	brain
25	chr8:6266800-6271400	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:6266800-6272800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:6266800-6273400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr8:6266800-6274200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:6267000-6272800	Strong transcription	Brain Cingulate Gyrus	brain
30	chr8:6267000-6273800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:6267400-6272400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:6267600-6276000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:6267600-6291400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:6267600-6302400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:6268000-6271200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
36	chr8:6268200-6282800	Weak transcription	NHLF	lung
37	chr8:6268200-6287400	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:6268400-6272200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:6268400-6272400	Weak transcription	NHEK	skin
40	chr8:6268400-6273800	Weak transcription	Brain Angular Gyrus	brain
41	chr8:6268400-6282800	Weak transcription	Fetal Kidney	kidney
42	chr8:6268600-6271400	Strong transcription	Primary B cells from cord blood	blood
43	chr8:6268600-6273800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:6268800-6271000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr8:6268800-6272400	Weak transcription	Adipose Nuclei	Adipose
46	chr8:6268800-6272400	Weak transcription	Spleen	Spleen
47	chr8:6268800-6272600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:6268800-6291600	Weak transcription	HSMMtube	muscle
49	chr8:6269000-6271200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:6269000-6272200	Weak transcription	Brain Hippocampus Middle	brain

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