Variant report

Variant	rs530207850
Chromosome Location	chr9:25677545-25677546
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:112326747..112327613-chr9:25677447..25678064,2	Hela-S3	cervix:
2	chr9:25418497..25420216-chr9:25675741..25678077,2	MCF-7	breast:
3	chr9:25675224..25676763-chr9:25677105..25678676,2	MCF-7	breast:
4	chr10:123872158..123872830-chr9:25677516..25678397,2	Hela-S3	cervix:
5	chr9:25517372..25520682-chr9:25675267..25678566,4	MCF-7	breast:
6	chr9:25662809..25665496-chr9:25677024..25678546,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138162	Chromatin interaction
ENSG00000108055	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv466309	chr9:25157678-25683220	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv613889	chr9:25157678-25683220	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv869035	chr9:25287213-25779281	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv531597	chr9:25325401-25779422	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv613912	chr9:25538362-25722614	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv533233	chr9:25548163-25702906	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv831530	chr9:25563811-25754022	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1015883	chr9:25633359-26315286	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	esv3389885	chr9:25653001-25688182	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3451258	chr9:25664001-25688182	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv824893	chr9:25667989-25682355	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv3360950	chr9:25676977-25679525	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:25676000-25677600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:25676200-25678400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:25676200-25678800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:25676400-25678600	Active TSS	NHEK	skin
5	chr9:25676600-25678200	Active TSS	HMEC	breast
6	chr9:25676600-25678800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:25676600-25679400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:25676800-25678600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr9:25676800-25678600	Active TSS	A549	lung
10	chr9:25677000-25677600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:25677000-25677600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr9:25677000-25677600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:25677000-25677600	Active TSS	Brain Germinal Matrix	brain
14	chr9:25677000-25677600	Flanking Active TSS	Fetal Brain Male	brain
15	chr9:25677000-25677600	Flanking Active TSS	HUVEC	blood vessel
16	chr9:25677000-25678400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:25677000-25678400	Active TSS	Liver	Liver
18	chr9:25677000-25678400	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr9:25677000-25678600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr9:25677000-25678600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:25677000-25678600	Active TSS	Brain Hippocampus Middle	brain
22	chr9:25677000-25678600	Active TSS	Duodenum Mucosa	Duodenum
23	chr9:25677000-25678600	Active TSS	Fetal Lung	lung
24	chr9:25677000-25678600	Active TSS	Fetal Stomach	stomach
25	chr9:25677000-25678600	Active TSS	Psoas Muscle	Psoas
26	chr9:25677000-25678600	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr9:25677000-25678600	Active TSS	Rectal Smooth Muscle	rectum
28	chr9:25677000-25678600	Active TSS	Stomach Smooth Muscle	stomach
29	chr9:25677000-25678600	Active TSS	Hela-S3	cervix
30	chr9:25677000-25678600	Active TSS	HSMM	muscle
31	chr9:25677000-25678600	Active TSS	Osteobl	bone
32	chr9:25677000-25678800	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr9:25677000-25678800	Active TSS	Brain Angular Gyrus	brain
34	chr9:25677000-25678800	Active TSS	Brain Cingulate Gyrus	brain
35	chr9:25677000-25678800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr9:25677000-25678800	Active TSS	Colonic Mucosa	Colon
37	chr9:25677000-25678800	Active TSS	Colon Smooth Muscle	Colon
38	chr9:25677000-25678800	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr9:25677000-25678800	Active TSS	Fetal Intestine Small	intestine
40	chr9:25677000-25678800	Active TSS	Fetal Kidney	kidney
41	chr9:25677000-25678800	Active TSS	Fetal Muscle Leg	muscle
42	chr9:25677000-25678800	Active TSS	Stomach Mucosa	stomach
43	chr9:25677000-25678800	Active TSS	HSMMtube	muscle
44	chr9:25677000-25679000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:25677000-25679000	Active TSS	Aorta	Aorta
46	chr9:25677000-25679000	Active TSS	Brain Anterior Caudate	brain
47	chr9:25677000-25679000	Active TSS	Ovary	ovary
48	chr9:25677000-25679000	Active TSS	Right Atrium	heart
49	chr9:25677000-25679000	Active TSS	Right Ventricle	heart
50	chr9:25677000-25679000	Active TSS	NHDF-Ad	bronchial

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