Variant report

Variant	rs555705395
Chromosome Location	chr9:116926530-116926531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr9:116925553-116926681	IMR90	lung:	n/a	n/a
2	FOSL2	chr9:116926489-116926808	HepG2	liver:	n/a	chr9:116926639-116926651 chr9:116926641-116926649
3	POLR2A	chr9:116926463-116927714	HepG2	liver:	n/a	n/a
4	MAZ	chr9:116925543-116926838	IMR90	lung:	n/a	n/a
5	FOS	chr9:116926503-116926778	MCF10A-Er-Src	breast:	n/a	chr9:116926639-116926651 chr9:116926641-116926649
6	FOS	chr9:116926480-116926777	MCF10A-Er-Src	breast:	n/a	chr9:116926639-116926651 chr9:116926641-116926649

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

Variant related genes	Relation type
COL27A1	TF binding region

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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116919000-116936600	Weak transcription	Brain Hippocampus Middle	brain
2	chr9:116919000-116937600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:116919200-116972000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:116919400-116930000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:116919600-116939600	Weak transcription	Hela-S3	cervix
6	chr9:116919800-116927000	Enhancers	Liver	Liver
7	chr9:116919800-116927200	Genic enhancers	Fetal Intestine Small	intestine
8	chr9:116921800-116931600	Weak transcription	Aorta	Aorta
9	chr9:116923000-116926800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr9:116923200-116927000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:116923600-116926800	Enhancers	Psoas Muscle	Psoas
12	chr9:116924000-116926800	Genic enhancers	Fetal Stomach	stomach
13	chr9:116924000-116927000	Enhancers	Pancreas	Pancrea
14	chr9:116924200-116926800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:116924200-116927000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:116924200-116927000	Enhancers	Fetal Muscle Leg	muscle
17	chr9:116924400-116926800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:116924800-116926600	Enhancers	NHDF-Ad	bronchial
19	chr9:116924800-116926800	Enhancers	Fetal Lung	lung
20	chr9:116925000-116926600	Enhancers	HepG2	liver
21	chr9:116925000-116927000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:116925400-116926600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr9:116925400-116926800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:116925600-116926600	Enhancers	HSMMtube	muscle
25	chr9:116925600-116926600	Flanking Active TSS	NHEK	skin
26	chr9:116925600-116926600	Enhancers	Osteobl	bone
27	chr9:116925600-116926800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr9:116925600-116926800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:116925600-116926800	Enhancers	HMEC	breast
30	chr9:116925800-116926600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr9:116925800-116926600	Enhancers	Adipose Nuclei	Adipose
32	chr9:116925800-116926800	Enhancers	Lung	lung
33	chr9:116925800-116927000	Enhancers	Fetal Muscle Trunk	muscle
34	chr9:116925800-116931800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr9:116926000-116926600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:116926000-116926600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:116926000-116926800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr9:116926000-116926800	Enhancers	NHLF	lung
39	chr9:116926000-116927000	Enhancers	Duodenum Mucosa	Duodenum
40	chr9:116926000-116927000	Enhancers	Fetal Intestine Large	intestine
41	chr9:116926000-116928600	Weak transcription	HUVEC	blood vessel
42	chr9:116926000-116929800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:116926000-116929800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr9:116926000-116930000	Weak transcription	Esophagus	oesophagus
45	chr9:116926000-116931600	Weak transcription	Spleen	Spleen
46	chr9:116926000-116937200	Weak transcription	Gastric	stomach
47	chr9:116926200-116926600	Enhancers	HSMM	muscle
48	chr9:116926200-116926800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:116926200-116926800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr9:116926200-116926800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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