Variant report

Variant	rs546083998
Chromosome Location	chr9:116925539-116925540
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116870237..116871907-chr9:116924776..116927376,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
4	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
5	nsv870215	chr9:116842614-117070344	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	124 gene(s)	inside rSNPs	diseases
6	nsv893752	chr9:116899258-116944333	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv466527	chr9:116907448-116933449	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv615228	chr9:116907448-116933449	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv466529	chr9:116907553-116930194	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv615229	chr9:116907553-116930194	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv466530	chr9:116916931-116935660	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv615230	chr9:116916931-116935660	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv466531	chr9:116916931-116940418	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv615231	chr9:116916931-116940418	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv3357134	chr9:116925431-116930729	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116919000-116925800	Weak transcription	Gastric	stomach
2	chr9:116919000-116936600	Weak transcription	Brain Hippocampus Middle	brain
3	chr9:116919000-116937600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr9:116919200-116972000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:116919400-116925800	Weak transcription	Ovary	ovary
6	chr9:116919400-116930000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:116919600-116925600	Weak transcription	Fetal Heart	heart
8	chr9:116919600-116939600	Weak transcription	Hela-S3	cervix
9	chr9:116919800-116925600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr9:116919800-116925600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:116919800-116925600	Enhancers	Fetal Intestine Large	intestine
12	chr9:116919800-116925600	Weak transcription	Fetal Kidney	kidney
13	chr9:116919800-116925800	Weak transcription	Lung	lung
14	chr9:116919800-116927000	Enhancers	Liver	Liver
15	chr9:116919800-116927200	Genic enhancers	Fetal Intestine Small	intestine
16	chr9:116920400-116925600	Weak transcription	HMEC	breast
17	chr9:116920600-116925600	Weak transcription	Colon Smooth Muscle	Colon
18	chr9:116920600-116925600	Weak transcription	Right Ventricle	heart
19	chr9:116920800-116925600	Weak transcription	HUVEC	blood vessel
20	chr9:116920800-116925800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr9:116921800-116925600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr9:116921800-116931600	Weak transcription	Aorta	Aorta
23	chr9:116922000-116925600	Weak transcription	A549	lung
24	chr9:116922200-116925600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr9:116922200-116925800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr9:116922200-116925800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr9:116922400-116925600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:116922400-116925600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr9:116922400-116925600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:116922400-116925600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr9:116922400-116925800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:116922400-116925800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr9:116923000-116925600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr9:116923000-116926800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr9:116923200-116927000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:116923600-116925600	Enhancers	Fetal Muscle Trunk	muscle
37	chr9:116923600-116926400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:116923600-116926800	Enhancers	Psoas Muscle	Psoas
39	chr9:116924000-116926400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:116924000-116926400	Enhancers	Left Ventricle	heart
41	chr9:116924000-116926400	Enhancers	Stomach Mucosa	stomach
42	chr9:116924000-116926800	Genic enhancers	Fetal Stomach	stomach
43	chr9:116924000-116927000	Enhancers	Pancreas	Pancrea
44	chr9:116924200-116926800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:116924200-116927000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:116924200-116927000	Enhancers	Fetal Muscle Leg	muscle
47	chr9:116924400-116925600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr9:116924400-116925600	Genic enhancers	NHEK	skin
49	chr9:116924400-116926000	Enhancers	Esophagus	oesophagus
50	chr9:116924400-116926400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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