Variant report

Variant	rs2978893
Chromosome Location	chr8:6696017-6696018
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	chr8:6694560..6697421-chr8:6701226..6702804,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2702845	0.85[EUR][1000 genomes]
rs2702846	0.84[EUR][1000 genomes]
rs2741099	0.85[EUR][1000 genomes]
rs2951828	0.83[EUR][1000 genomes]
rs2951830	0.80[EUR][1000 genomes]
rs2951832	0.81[EUR][1000 genomes]
rs2951833	0.92[EUR][1000 genomes]
rs2951851	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2977798	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2977799	0.93[EUR][1000 genomes]
rs2977802	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2977803	0.94[EUR][1000 genomes]
rs2977804	0.87[EUR][1000 genomes]
rs2977806	0.81[EUR][1000 genomes]
rs2978889	0.90[EUR][1000 genomes]
rs2978890	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2978892	0.97[EUR][1000 genomes]
rs2978894	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2978898	0.85[ASN][1000 genomes]
rs2980954	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2980955	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3863728	0.93[EUR][1000 genomes]
rs4840638	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4840639	0.87[EUR][1000 genomes]
rs881362	0.80[EUR][1000 genomes]
rs9314614	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9772604	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	nsv831220	chr8:6527845-6728491	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
10	nsv465436	chr8:6568201-6921404	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv610006	chr8:6568201-6921404	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv1027883	chr8:6570354-7250368	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	nsv1034812	chr8:6578390-6920312	Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv949532	chr8:6579563-6999220	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv482865	chr8:6585920-6765111	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
16	nsv1015563	chr8:6596171-6730826	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
17	nsv539432	chr8:6596171-6730826	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	nsv1015244	chr8:6638899-6988914	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
19	esv2752262	chr8:6638899-7011075	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
20	nsv1025587	chr8:6651912-7171085	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
21	nsv465437	chr8:6655391-6829085	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
22	nsv610007	chr8:6655391-6829085	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv1031296	chr8:6673296-6920312	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv890060	chr8:6690276-6717107	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6693000-6698000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:6693200-6698000	Weak transcription	Brain Substantia Nigra	brain
3	chr8:6693400-6698000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:6693400-6698000	Weak transcription	Pancreas	Pancrea
5	chr8:6693400-6698000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:6693400-6698200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:6693400-6698600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:6693400-6698600	Weak transcription	GM12878-XiMat	blood
9	chr8:6693400-6699200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:6693600-6698000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:6693600-6698000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:6693600-6698000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:6693600-6698000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:6693600-6698000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:6693600-6698000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:6693600-6698000	Weak transcription	Fetal Brain Female	brain
17	chr8:6693600-6698000	Weak transcription	Fetal Heart	heart
18	chr8:6693600-6698000	Weak transcription	Fetal Lung	lung
19	chr8:6693600-6698000	Weak transcription	Spleen	Spleen
20	chr8:6693600-6698000	Weak transcription	NH-A	brain
21	chr8:6693600-6698000	Weak transcription	Osteobl	bone
22	chr8:6693800-6697800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:6693800-6698000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:6694000-6697800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:6694000-6698000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:6694000-6698000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:6694000-6698000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:6694000-6698000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:6694000-6698000	Weak transcription	Brain Germinal Matrix	brain
30	chr8:6694000-6698000	Weak transcription	Fetal Intestine Small	intestine
31	chr8:6694000-6698000	Weak transcription	Fetal Kidney	kidney
32	chr8:6694000-6698000	Weak transcription	Fetal Thymus	thymus
33	chr8:6694000-6698000	Weak transcription	Thymus	Thymus
34	chr8:6694000-6698400	Weak transcription	Fetal Stomach	stomach
35	chr8:6694000-6699000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:6694200-6697800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:6694200-6698000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:6694200-6698000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr8:6694200-6698000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:6694200-6698000	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:6694400-6696400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr8:6694400-6698600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:6695600-6697600	Weak transcription	Dnd41	blood

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