Variant report

Variant	rs6478596
Chromosome Location	chr9:100952351-100952352
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100939196..100942358-chr9:100952088..100954820,4	MCF-7	breast:
2	chr9:100833054..100835913-chr9:100950027..100952929,2	MCF-7	breast:
3	chr9:100896828..100898898-chr9:100952325..100954210,2	K562	blood:
4	chr9:100951866..100957184-chr9:101014234..101020511,10	K562	blood:
5	chr9:100932527..100936703-chr9:100952110..100957364,6	MCF-7	breast:
6	chr9:100879224..100881546-chr9:100952036..100953607,2	MCF-7	breast:
7	chr9:100952199..100954695-chr9:100957518..100959122,2	K562	blood:
8	chr9:100951009..100953373-chr9:100973381..100975463,2	K562	blood:
9	chr9:100934419..100936711-chr9:100950978..100955014,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000095383	Chromatin interaction
ENSG00000106785	Chromatin interaction
ENSG00000106789	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10985366	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10985441	0.82[ASN][1000 genomes]
rs2023361	0.82[ASN][1000 genomes]
rs2181581	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2417893	0.82[ASN][1000 genomes]
rs2900463	0.81[ASN][1000 genomes]
rs3739664	0.80[ASN][1000 genomes]
rs3739666	0.82[ASN][1000 genomes]
rs3739667	0.81[ASN][1000 genomes]
rs3780449	0.81[ASN][1000 genomes]
rs3780450	0.81[ASN][1000 genomes]
rs4743186	0.82[ASN][1000 genomes]
rs6478597	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478598	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6478599	0.83[EUR][1000 genomes]
rs7021760	0.81[ASN][1000 genomes]
rs733040	0.82[ASN][1000 genomes]
rs942166	0.82[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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100931800-100954400	Weak transcription	Right Atrium	heart
2	chr9:100934400-100954000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:100935400-100953000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr9:100935400-100953000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr9:100935400-100953200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:100936000-100953000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr9:100936000-100953200	Weak transcription	Gastric	stomach
8	chr9:100937800-100953200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:100938000-100952600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:100938000-100953000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:100940400-100952400	Genic enhancers	Fetal Intestine Small	intestine
12	chr9:100941800-100954000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:100942800-100953400	Weak transcription	Primary T cells from cord blood	blood
14	chr9:100943400-100952600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr9:100945000-100953000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:100945000-100953600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:100945800-100952400	Weak transcription	Stomach Mucosa	stomach
18	chr9:100948200-100953000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:100948200-100953200	Weak transcription	Primary B cells from cord blood	blood
20	chr9:100948200-100953400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr9:100948200-100953400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr9:100948400-100953000	Weak transcription	Lung	lung
23	chr9:100948400-100953200	Weak transcription	Esophagus	oesophagus
24	chr9:100948400-100953600	Weak transcription	Spleen	Spleen
25	chr9:100948400-100954000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr9:100948600-100952400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr9:100948600-100953600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:100948600-100953600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr9:100949200-100954200	Weak transcription	Small Intestine	intestine
30	chr9:100949600-100954000	Enhancers	Fetal Thymus	thymus
31	chr9:100950000-100953600	Enhancers	K562	blood
32	chr9:100950200-100952400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr9:100950200-100952600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr9:100950200-100953200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr9:100950400-100952800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr9:100950400-100952800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:100950400-100952800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr9:100950400-100953000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr9:100950600-100953800	Weak transcription	HMEC	breast
40	chr9:100951000-100952800	Enhancers	Fetal Intestine Large	intestine
41	chr9:100951000-100953200	Weak transcription	Colonic Mucosa	Colon
42	chr9:100951200-100952400	Enhancers	Duodenum Mucosa	Duodenum
43	chr9:100951200-100952600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr9:100951200-100953600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr9:100951200-100953600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr9:100951400-100952800	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr9:100951400-100952800	Enhancers	HepG2	liver
48	chr9:100951400-100953200	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr9:100951400-100953200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr9:100951400-100954000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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