Variant report

Variant	rs538906814
Chromosome Location	chr9:116860821-116860822
allele	G/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	MAZ	chr9:116860427-116861204	K562	blood:	n/a	n/a
2	MAX	chr9:116859920-116860941	A549	lung:	n/a	n/a
3	ZBTB7A	chr9:116859806-116861390	ECC-1	luminal epithelium:	n/a	chr9:116861008-116861015
4	ZBTB7A	chr9:116860030-116861518	ECC-1	luminal epithelium:	n/a	chr9:116861008-116861015
5	SP4	chr9:116860475-116860907	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr9:116860405-116860895	ECC-1	luminal epithelium:	n/a	n/a
7	E2F6	chr9:116860288-116860861	A549	lung:	n/a	chr9:116860320-116860330
8	TCF12	chr9:116860367-116860952	ECC-1	luminal epithelium:	n/a	n/a
9	TCF12	chr9:116859874-116860906	ECC-1	luminal epithelium:	n/a	n/a
10	NFIC	chr9:116859794-116860961	ECC-1	luminal epithelium:	n/a	n/a
11	NFIC	chr9:116859766-116860959	ECC-1	luminal epithelium:	n/a	n/a
12	EP300	chr9:116859799-116860821	ECC-1	luminal epithelium:	n/a	n/a
13	MAZ	chr9:116860372-116861075	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116637031..116639708-chr9:116859646..116861440,2	MCF-7	breast:

Variant related genes	Relation type
KIF12	TF binding region
ENSG00000157657	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 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	nsv466514	chr9:116810890-116867054	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv615222	chr9:116810890-116867054	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv466515	chr9:116814661-116867054	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv615223	chr9:116814661-116867054	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv528822	chr9:116815777-116867054	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv466516	chr9:116815777-116867054	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv466518	chr9:116815777-116867054	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv466519	chr9:116815777-116867054	Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv466520	chr9:116815777-116867054	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv466521	chr9:116815777-116867054	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv466522	chr9:116815777-116867054	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv466523	chr9:116815777-116867054	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv471319	chr9:116815777-116867054	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
18	nsv615224	chr9:116815777-116867054	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
19	nsv466524	chr9:116826842-116867054	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv466525	chr9:116826842-116867054	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv615225	chr9:116826842-116867054	Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	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
23	nsv893751	chr9:116846467-116874355	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv515856	chr9:116853797-116867054	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	esv3326630	chr9:116859356-116862304	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	esv3328680	chr9:116859781-116862229	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116858800-116862200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr9:116859400-116861400	Active TSS	Fetal Kidney	kidney
3	chr9:116859400-116862200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr9:116859600-116861800	Bivalent Enhancer	Placenta	Placenta
5	chr9:116859800-116861200	Enhancers	Liver	Liver
6	chr9:116859800-116861400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr9:116859800-116861600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr9:116859800-116862400	Enhancers	Spleen	Spleen
9	chr9:116860000-116861400	Active TSS	Gastric	stomach
10	chr9:116860000-116861400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr9:116860000-116861600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr9:116860000-116861600	Bivalent Enhancer	NH-A	brain
13	chr9:116860000-116861800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr9:116860000-116862000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr9:116860200-116861000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
16	chr9:116860200-116861000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:116860200-116861000	Active TSS	Psoas Muscle	Psoas
18	chr9:116860200-116861000	Bivalent/Poised TSS	Thymus	Thymus
19	chr9:116860200-116861000	Weak transcription	HepG2	liver
20	chr9:116860200-116861200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:116860200-116861200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr9:116860200-116861200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr9:116860200-116861200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
24	chr9:116860200-116861200	Active TSS	Fetal Intestine Large	intestine
25	chr9:116860200-116861200	Active TSS	Fetal Intestine Small	intestine
26	chr9:116860200-116861200	Active TSS	Pancreas	Pancrea
27	chr9:116860200-116861200	Active TSS	Right Atrium	heart
28	chr9:116860200-116861200	Active TSS	A549	lung
29	chr9:116860200-116861400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:116860200-116861400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr9:116860200-116861600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr9:116860200-116862000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr9:116860400-116861000	Bivalent/Poised TSS	Fetal Stomach	stomach
34	chr9:116860400-116861200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr9:116860400-116861200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:116860400-116861200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:116860400-116861200	Active TSS	Brain Anterior Caudate	brain
38	chr9:116860400-116861200	Active TSS	Duodenum Mucosa	Duodenum
39	chr9:116860400-116861200	Weak transcription	Fetal Lung	lung
40	chr9:116860400-116861200	Active TSS	Ovary	ovary
41	chr9:116860400-116861200	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr9:116860400-116861200	Active TSS	Right Ventricle	heart
43	chr9:116860400-116861200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr9:116860400-116861400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:116860400-116861400	Bivalent/Poised TSS	NHEK	skin
46	chr9:116860600-116861000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:116860600-116861000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:116860600-116861000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
49	chr9:116860600-116861000	Weak transcription	Stomach Mucosa	stomach
50	chr9:116860600-116861200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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