Variant report

Variant	rs7045430
Chromosome Location	chr9:100970307-100970308
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100967570..100970499-chr9:100974928..100976883,2	MCF-7	breast:
2	chr9:100968715..100971359-chr9:101017850..101020097,2	MCF-7	breast:
3	chr9:100743176..100746592-chr9:100969573..100972720,3	K562	blood:
4	chr9:100967414..100970312-chr9:100980747..100984136,3	K562	blood:
5	chr9:100969612..100970538-chr9:100996837..100997369,2	MCF-7	breast:
6	chr9:100955088..100957656-chr9:100968748..100970804,2	K562	blood:
7	chr9:100968291..100970731-chr9:100972998..100976286,3	MCF-7	breast:
8	chr9:100969591..100970496-chr9:100977860..100978743,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224001	Chromatin interaction
ENSG00000136938	Chromatin interaction
ENSG00000095383	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10217245	0.82[AFR][1000 genomes]
rs10217458	0.82[AFR][1000 genomes]
rs57846832	1.00[AMR][1000 genomes]
rs73494883	1.00[AMR][1000 genomes]
rs7866688	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100955800-100970400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr9:100955800-100970400	Weak transcription	Left Ventricle	heart
3	chr9:100955800-100970400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:100955800-100970600	Weak transcription	Ovary	ovary
5	chr9:100955800-100970600	Weak transcription	Right Ventricle	heart
6	chr9:100955800-100975000	Weak transcription	Primary B cells from cord blood	blood
7	chr9:100955800-100975000	Weak transcription	NHDF-Ad	bronchial
8	chr9:100955800-100975200	Weak transcription	NH-A	brain
9	chr9:100955800-100975600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr9:100955800-101003200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr9:100956000-100970600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:100956000-100971000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr9:100956000-100981000	Weak transcription	A549	lung
14	chr9:100956200-100973000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr9:100958600-100985400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr9:100959200-100977000	Strong transcription	HMEC	breast
17	chr9:100959600-100984400	Strong transcription	Osteobl	bone
18	chr9:100959800-100985200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr9:100961400-101001400	Weak transcription	Right Atrium	heart
20	chr9:100962000-100970800	Strong transcription	HSMM	muscle
21	chr9:100962000-100972600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr9:100962400-100970400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr9:100962400-100970400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr9:100962400-100970800	Weak transcription	Thymus	Thymus
25	chr9:100962600-100975200	Weak transcription	Brain Anterior Caudate	brain
26	chr9:100962800-100970400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:100962800-100970600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr9:100962800-100971000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr9:100963200-100970400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:100964400-100971000	Weak transcription	Pancreas	Pancrea
31	chr9:100965600-100970600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr9:100965600-100982200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:100965800-100971000	Weak transcription	Adipose Nuclei	Adipose
34	chr9:100965800-100971000	Weak transcription	Colonic Mucosa	Colon
35	chr9:100966000-100970600	Weak transcription	Aorta	Aorta
36	chr9:100966000-100970600	Weak transcription	Gastric	stomach
37	chr9:100968000-100987000	Weak transcription	Small Intestine	intestine
38	chr9:100968200-100971000	Genic enhancers	NHEK	skin
39	chr9:100968200-100976400	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr9:100968400-100970600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr9:100968400-100970800	Strong transcription	Lung	lung
42	chr9:100968400-100971000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr9:100968400-100971400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:100968400-100972000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:100968400-100982200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr9:100968400-100995600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr9:100968400-100997600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr9:100968600-100971000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr9:100968600-100971200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr9:100968600-100971200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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