Variant report

Variant	rs2442541
Chromosome Location	chr8:6273444-6273445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6260743..6265726-chr8:6271007..6273930,5	K562	blood:

Variant related genes	Relation type
ENSG00000147316	Chromatin interaction
ENSG00000246089	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10087683	1.00[AMR][1000 genomes]
rs10088158	1.00[AMR][1000 genomes]
rs10088405	1.00[AMR][1000 genomes]
rs10088644	1.00[AMR][1000 genomes]
rs10092324	1.00[AMR][1000 genomes]
rs10092456	1.00[AMR][1000 genomes]
rs10107466	1.00[AMR][1000 genomes]
rs10108109	1.00[AMR][1000 genomes]
rs10108914	1.00[AMR][1000 genomes]
rs10110965	1.00[AMR][1000 genomes]
rs10111118	1.00[AMR][1000 genomes]
rs10113179	1.00[AMR][1000 genomes]
rs1017541	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12334525	1.00[AMR][1000 genomes]
rs12386783	1.00[AMR][1000 genomes]
rs1550689	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1550692	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1867395	1.00[AMR][1000 genomes]
rs2440421	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2440451	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2442480	1.00[AMR][1000 genomes]
rs2442481	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2442526	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2442529	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2515440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2515533	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2515580	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs2515590	1.00[AMR][1000 genomes]
rs28469044	1.00[AMR][1000 genomes]
rs28480644	1.00[AMR][1000 genomes]
rs28483406	1.00[AMR][1000 genomes]
rs28886005	1.00[AMR][1000 genomes]
rs6997026	1.00[AMR][1000 genomes]
rs7012924	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	chr8:6265000-6286600	Weak transcription	Small Intestine	intestine
2	chr8:6265000-6339200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:6265200-6281800	Weak transcription	Right Atrium	heart
4	chr8:6265200-6281800	Weak transcription	Right Ventricle	heart
5	chr8:6265200-6282600	Weak transcription	Colonic Mucosa	Colon
6	chr8:6265200-6302200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:6265400-6278200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:6265400-6287400	Weak transcription	Psoas Muscle	Psoas
9	chr8:6265400-6303800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:6265600-6276400	Weak transcription	Fetal Brain Male	brain
11	chr8:6265600-6290000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:6266000-6275800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:6266000-6275800	Strong transcription	Fetal Muscle Leg	muscle
14	chr8:6266600-6275200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:6266800-6274200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:6267000-6273800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:6267600-6276000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:6267600-6291400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:6267600-6302400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:6268200-6282800	Weak transcription	NHLF	lung
21	chr8:6268200-6287400	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:6268400-6273800	Weak transcription	Brain Angular Gyrus	brain
23	chr8:6268400-6282800	Weak transcription	Fetal Kidney	kidney
24	chr8:6268600-6273800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:6268800-6291600	Weak transcription	HSMMtube	muscle
26	chr8:6269000-6278200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:6269200-6273600	Weak transcription	Brain Substantia Nigra	brain
28	chr8:6269200-6275000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:6269400-6274600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:6269400-6281600	Weak transcription	Fetal Heart	heart
31	chr8:6269400-6281800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:6269600-6273800	Weak transcription	HMEC	breast
33	chr8:6269600-6278800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:6269600-6280200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:6269600-6282800	Weak transcription	HSMM	muscle
36	chr8:6269800-6275400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:6269800-6278000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:6269800-6281400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:6269800-6281600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:6269800-6281800	Weak transcription	NHDF-Ad	bronchial
41	chr8:6269800-6286600	Weak transcription	Pancreas	Pancrea
42	chr8:6269800-6286600	Weak transcription	Stomach Mucosa	stomach
43	chr8:6269800-6290200	Weak transcription	NH-A	brain
44	chr8:6270000-6274400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:6270200-6274600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:6270200-6275600	Weak transcription	Brain Germinal Matrix	brain
47	chr8:6270200-6277600	Weak transcription	Hela-S3	cervix
48	chr8:6270200-6278800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:6270200-6295000	Weak transcription	Fetal Brain Female	brain
50	chr8:6270400-6274200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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