Variant report

Variant	rs575290248
Chromosome Location	chr9:116365619-116365620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116357889..116361731-chr9:116362609..116366505,5	MCF-7	breast:
2	chr9:116364314..116366664-chr9:116377313..116378930,2	MCF-7	breast:
3	chr9:116364672..116367023-chr9:116368239..116370280,2	MCF-7	breast:
4	chr9:116354124..116355971-chr9:116365134..116366899,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
6	nsv466509	chr9:116356516-116396098	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv615216	chr9:116356516-116396098	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv466510	chr9:116363877-116397397	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv615217	chr9:116363877-116397397	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv615218	chr9:116365126-116391069	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116358000-116371800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:116360200-116366400	Enhancers	Placenta	Placenta
3	chr9:116360400-116371800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:116360600-116365800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr9:116360600-116366000	Enhancers	Right Ventricle	heart
6	chr9:116360800-116366000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:116360800-116366000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr9:116360800-116366000	Enhancers	NHDF-Ad	bronchial
9	chr9:116360800-116366600	Enhancers	Liver	Liver
10	chr9:116361000-116366400	Enhancers	Fetal Muscle Leg	muscle
11	chr9:116361200-116365800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:116361200-116366600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr9:116361400-116366000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:116361400-116366000	Enhancers	Fetal Lung	lung
15	chr9:116361400-116367000	Enhancers	Adipose Nuclei	Adipose
16	chr9:116362000-116366000	Enhancers	HMEC	breast
17	chr9:116362000-116366600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr9:116362200-116365800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:116362400-116366000	Enhancers	Fetal Muscle Trunk	muscle
20	chr9:116362400-116366400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:116363000-116365800	Enhancers	Fetal Stomach	stomach
22	chr9:116363000-116366800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:116363400-116366000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:116363600-116366000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr9:116363600-116366200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr9:116363600-116366200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:116363600-116366400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr9:116363800-116365800	Enhancers	NHEK	skin
29	chr9:116363800-116366600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr9:116364000-116366400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr9:116364200-116366200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr9:116364400-116366200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:116364800-116366400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr9:116364800-116368200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:116364800-116371800	Weak transcription	Brain Angular Gyrus	brain
36	chr9:116365000-116365800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:116365000-116366600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:116365000-116370200	Weak transcription	HUVEC	blood vessel
39	chr9:116365000-116371200	Weak transcription	Right Atrium	heart
40	chr9:116365200-116366600	Weak transcription	K562	blood
41	chr9:116365200-116371800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:116365200-116371800	Weak transcription	Gastric	stomach
43	chr9:116365400-116368600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:116365400-116371800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr9:116365600-116366200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:116365600-116367600	Enhancers	HepG2	liver
47	chr9:116365600-116371200	Weak transcription	Aorta	Aorta
48	chr9:116365600-116371200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr9:116365600-116371600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:116365600-116371800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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