Variant report

Variant	rs9368584
Chromosome Location	chr6:28945959-28945960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28889158..28893048-chr6:28945668..28948691,6	K562	blood:
2	chr6:28890727..28894097-chr6:28943047..28947323,5	MCF-7	breast:
3	chr6:28907253..28915101-chr6:28945522..28952393,17	K562	blood:
4	chr6:28905933..28927444-chr6:28943937..28954526,53	K562	blood:
5	chr6:28888560..28894615-chr6:28945306..28952099,20	K562	blood:
6	chr6:28940964..28943621-chr6:28945663..28948952,4	K562	blood:

Variant related genes	Relation type
ENSG00000204713	Chromatin interaction
ENSG00000204709	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4711182	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713200	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56158159	0.84[ASN][1000 genomes]
rs6456879	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456881	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6908206	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348821	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9357075	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9366734	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9368585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468458	0.83[ASN][1000 genomes]
rs968722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427748	chr6:28831888-28999434	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv830622	chr6:28861667-29015804	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
3	nsv1023540	chr6:28922691-29326018	Active TSS Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	nsv538169	chr6:28922691-29326018	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv869541	chr6:28922692-29326017	Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
6	nsv916439	chr6:28922697-29326087	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
7	nsv462668	chr6:28922719-29342775	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	46 gene(s)	inside rSNPs	diseases
8	nsv601213	chr6:28922719-29342775	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
9	nsv1015796	chr6:28923980-29342825	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv462669	chr6:28936556-29337500	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv601214	chr6:28936556-29337500	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28944800-28946000	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr6:28944800-28946200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:28944800-28946400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr6:28945000-28946000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
5	chr6:28945000-28946000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:28945000-28946200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:28945000-28946400	Enhancers	HMEC	breast
8	chr6:28945400-28946000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
9	chr6:28945400-28948200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:28945400-28948200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:28945400-28948200	Enhancers	Hela-S3	cervix
12	chr6:28945400-28948600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:28945600-28946000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr6:28945600-28946000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
15	chr6:28945600-28946000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:28945600-28946000	Enhancers	Primary B cells from peripheral blood	blood
17	chr6:28945600-28946000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
18	chr6:28945600-28946000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:28945600-28946000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:28945600-28946200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:28945600-28946200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:28945600-28946200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:28945600-28946200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
24	chr6:28945600-28946200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr6:28945600-28946400	Enhancers	Osteobl	bone
26	chr6:28945600-28947600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:28945600-28947800	Weak transcription	Colonic Mucosa	Colon
28	chr6:28945600-28948000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:28945600-28948200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:28945600-28948200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:28945600-28948200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:28945600-28948200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:28945600-28948400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:28945600-28948400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:28945600-28948400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:28945600-28948400	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:28945600-28948400	Weak transcription	Right Atrium	heart
38	chr6:28945600-28948400	Weak transcription	Right Ventricle	heart
39	chr6:28945600-28948600	Weak transcription	NHLF	lung
40	chr6:28945800-28946000	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr6:28945800-28946000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr6:28945800-28946000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:28945800-28946000	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr6:28945800-28946200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr6:28945800-28946200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
46	chr6:28945800-28946200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr6:28945800-28946200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:28945800-28946200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr6:28945800-28946200	Bivalent Enhancer	Primary B cells from cord blood	blood
50	chr6:28945800-28946200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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