Variant report

Variant	rs6478592
Chromosome Location	chr9:100948085-100948086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100879718..100885853-chr9:100942357..100948328,6	K562	blood:
2	chr9:100943163..100949594-chr9:100950229..100956766,12	K562	blood:
3	chr9:100927949..100931625-chr9:100946011..100949394,3	K562	blood:
4	chr9:100946651..100948622-chr9:100960430..100962165,2	K562	blood:
5	chr9:100942818..100944383-chr9:100947690..100949311,2	K562	blood:
6	chr9:100923336..100926310-chr9:100946528..100948532,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106789	Chromatin interaction
ENSG00000106785	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10818581	0.93[ASN][1000 genomes]
rs10985408	0.83[ASN][1000 genomes]
rs2282433	0.82[ASN][1000 genomes]
rs4408014	0.81[ASN][1000 genomes]
rs7031271	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7034562	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72757946	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482635	chr9:100775549-100953239	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1053729	chr9:100909554-100997718	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv520067	chr9:100927161-100978542	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv831663	chr9:100941048-101109492	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers 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	17 gene(s)	inside rSNPs	diseases
6	nsv1045780	chr9:100943318-101080389	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv540180	chr9:100943318-101080389	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100931800-100954400	Weak transcription	Right Atrium	heart
2	chr9:100932800-100951200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr9:100933400-100951400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr9:100933800-100950200	Weak transcription	Colonic Mucosa	Colon
5	chr9:100933800-100951400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr9:100934400-100954000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:100935400-100953000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:100935400-100953000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr9:100935400-100953200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr9:100936000-100953000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr9:100936000-100953200	Weak transcription	Gastric	stomach
12	chr9:100937000-100948400	Weak transcription	Small Intestine	intestine
13	chr9:100937800-100951400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr9:100937800-100953200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr9:100938000-100949800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:100938000-100952600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:100938000-100953000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr9:100940000-100951400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr9:100940400-100952400	Genic enhancers	Fetal Intestine Small	intestine
20	chr9:100941800-100949800	Enhancers	Fetal Intestine Large	intestine
21	chr9:100941800-100954000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr9:100942800-100953400	Weak transcription	Primary T cells from cord blood	blood
23	chr9:100943400-100951400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr9:100943400-100952600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr9:100943600-100951400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr9:100945000-100950000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr9:100945000-100953000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:100945000-100953600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr9:100945200-100950000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr9:100945600-100951600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr9:100945800-100952400	Weak transcription	Stomach Mucosa	stomach
32	chr9:100946800-100948200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:100946800-100948400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:100946800-100948400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr9:100946800-100948400	Enhancers	Lung	lung
36	chr9:100947000-100948200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:100947000-100948400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr9:100947200-100948600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr9:100947200-100948600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr9:100947200-100950000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:100947400-100948200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr9:100947400-100948200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr9:100947400-100948600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:100947400-100948600	Enhancers	HMEC	breast
45	chr9:100947400-100948800	Enhancers	NHEK	skin
46	chr9:100947400-100949200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr9:100947600-100948200	Enhancers	Primary B cells from cord blood	blood
48	chr9:100947600-100948400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:100947600-100951400	Weak transcription	HepG2	liver
50	chr9:100947800-100948400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood

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