Variant report

Variant	rs372425043
Chromosome Location	chr9:93563880-93563881
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	YY1	chr9:93563843-93564271	GM12892	blood:	n/a	chr9:93563998-93564007 chr9:93564031-93564045
2	POLR2A	chr9:93563792-93564285	HCT-116	colon:	n/a	n/a
3	MYC	chr9:93563759-93564562	K562	blood:	n/a	n/a
4	E2F6	chr9:93563744-93564476	H1-hESC	embryonic stem cell:	n/a	chr9:93563947-93563958 chr9:93563899-93563909 chr9:93564104-93564114 chr9:93563998-93564007 chr9:93564107-93564117
5	SPI1	chr9:93563872-93564188	K562	blood:	n/a	chr9:93564064-93564077
6	EBF1	chr9:93563860-93564178	GM12878	blood:	n/a	n/a
7	YY1	chr9:93563847-93564199	K562	blood:	n/a	chr9:93563998-93564007 chr9:93564031-93564045
8	MYC	chr9:93563573-93564642	K562	blood:	n/a	n/a
9	POLR2A	chr9:93563717-93564499	MCF-7	breast:	n/a	n/a
10	POLR2A	chr9:93563396-93564672	GM12878	blood:	n/a	n/a
11	SPI1	chr9:93563606-93564528	GM12878	blood:	n/a	chr9:93564064-93564077
12	YY1	chr9:93563811-93564264	GM12878	blood:	n/a	chr9:93563998-93564007 chr9:93564031-93564045
13	TAF1	chr9:93563864-93564228	K562	blood:	n/a	n/a
14	MAX	chr9:93563496-93564477	H1-hESC	embryonic stem cell:	n/a	n/a
15	TBL1XR1	chr9:93563832-93564061	GM12878	blood:	n/a	n/a
16	POLR2A	chr9:93563681-93564542	MCF-7	breast:	n/a	n/a
17	SPI1	chr9:93563774-93564239	GM12891	blood:	n/a	chr9:93564064-93564077
18	ELF1	chr9:93563783-93564354	MCF-7	breast:	n/a	chr9:93564064-93564077 chr9:93564103-93564112
19	TAF1	chr9:93563622-93564650	ECC-1	luminal epithelium:	n/a	n/a
20	MAX	chr9:93563426-93564650	NB4	blood:	n/a	n/a
21	E2F6	chr9:93563712-93564118	A549	lung:	n/a	chr9:93563947-93563958 chr9:93563899-93563909 chr9:93564104-93564114 chr9:93563998-93564007 chr9:93564107-93564117
22	MAX	chr9:93563651-93564415	HCT-116	colon:	n/a	n/a
23	YY1	chr9:93563711-93564211	H1-hESC	embryonic stem cell:	n/a	chr9:93563998-93564007 chr9:93564031-93564045
24	POLR2A	chr9:93562803-93565322	GM12891	blood:	n/a	n/a
25	MAX	chr9:93563667-93564684	MCF-7	breast:	n/a	n/a
26	EP300	chr9:93563856-93564243	T-47D	breast:	n/a	chr9:93564105-93564114
27	TCF12	chr9:93563803-93564094	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr9:93563724-93564590	K562	blood:	n/a	n/a
29	POLR2A	chr9:93563845-93564216	HCT-116	colon:	n/a	n/a
30	CTCF	chr9:93563800-93563950	SAEC	small airway:	n/a	n/a
31	E2F6	chr9:93563796-93564128	K562	blood:	n/a	chr9:93563947-93563958 chr9:93563899-93563909 chr9:93564104-93564114 chr9:93563998-93564007 chr9:93564107-93564117
32	MAX	chr9:93563540-93564755	ECC-1	luminal epithelium:	n/a	n/a
33	REST	chr9:93563598-93564615	HL-60	blood:	n/a	chr9:93564116-93564129
34	HMGN3	chr9:93563733-93564604	K562	blood:	n/a	n/a
35	POLR2A	chr9:93563442-93564778	PBDE	blood:	n/a	n/a
36	YY1	chr9:93563745-93564561	ECC-1	luminal epithelium:	n/a	chr9:93563998-93564007 chr9:93564031-93564045 chr9:93564403-93564412
37	MAX	chr9:93563787-93564499	K562	blood:	n/a	n/a
38	MYC	chr9:93563781-93564334	MCF-7	breast:	n/a	n/a
39	GABPA	chr9:93563761-93564324	MCF-7	breast:	n/a	n/a
40	POLR2A	chr9:93562865-93564666	GM19193	blood:	n/a	n/a
41	POLR2A	chr9:93563861-93564330	GM12892	blood:	n/a	n/a
42	PAX5	chr9:93563838-93564125	GM12878	blood:	n/a	chr9:93564018-93564027
43	REST	chr9:93563836-93564233	ECC-1	luminal epithelium:	n/a	chr9:93564116-93564129
44	POLR2A	chr9:93563480-93564273	GM12878	blood:	n/a	n/a
45	CTCF	chr9:93563840-93563990	GM12866	blood:	n/a	n/a
46	SPI1	chr9:93563879-93564304	HL-60	blood:	n/a	chr9:93564064-93564077
47	POLR2A	chr9:93563437-93564845	GM12892	blood:	n/a	n/a
48	E2F6	chr9:93563594-93564640	K562	blood:	n/a	chr9:93563947-93563958 chr9:93563899-93563909 chr9:93564104-93564114 chr9:93563998-93564007 chr9:93564107-93564117
49	EP300	chr9:93563871-93564071	K562	blood:	n/a	n/a
50	RUNX3	chr9:93563662-93564523	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93561901..93563996-chr9:93577117..93579715,2	MCF-7	breast:

Variant related genes	Relation type
SYK	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv893567	chr9:93519280-93609668	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831652	chr9:93527411-93696923	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv893568	chr9:93539879-93774385	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv893569	chr9:93552550-93587089	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1038685	chr9:93556174-93685729	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv1813758	chr9:93557698-93573095	Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh 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
8	esv3387417	chr9:93562956-93565504	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93561200-93564000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr9:93563200-93564000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:93563200-93564600	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr9:93563200-93568000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr9:93563400-93564000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr9:93563400-93564000	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr9:93563400-93564200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
8	chr9:93563400-93564200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
9	chr9:93563400-93564400	Bivalent/Poised TSS	Fetal Stomach	stomach
10	chr9:93563400-93564600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:93563400-93564600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:93563400-93564600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr9:93563400-93564600	Active TSS	Fetal Kidney	kidney
14	chr9:93563400-93564800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr9:93563400-93564800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr9:93563400-93564800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr9:93563400-93564800	Active TSS	Right Atrium	heart
18	chr9:93563400-93565000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr9:93563400-93565000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr9:93563400-93565200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr9:93563600-93564000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:93563600-93564000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
23	chr9:93563600-93564000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr9:93563600-93564000	Bivalent Enhancer	Liver	Liver
25	chr9:93563600-93564000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
26	chr9:93563600-93564000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
27	chr9:93563600-93564000	Flanking Active TSS	HMEC	breast
28	chr9:93563600-93564200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:93563600-93564200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr9:93563600-93564200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr9:93563600-93564200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:93563600-93564200	Bivalent/Poised TSS	A549	lung
33	chr9:93563600-93564400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr9:93563600-93564400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
35	chr9:93563600-93564400	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
36	chr9:93563600-93564400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
37	chr9:93563600-93564400	Bivalent/Poised TSS	Esophagus	oesophagus
38	chr9:93563600-93564600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr9:93563600-93564600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:93563600-93564600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:93563600-93564600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:93563600-93564600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:93563600-93564600	Active TSS	Primary T cells from cord blood	blood
44	chr9:93563600-93564600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
45	chr9:93563600-93564600	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
46	chr9:93563600-93564600	Active TSS	Right Ventricle	heart
47	chr9:93563600-93564600	Bivalent/Poised TSS	Small Intestine	intestine
48	chr9:93563600-93564800	Active TSS	H9 Cell Line	embryonic stem cell
49	chr9:93563600-93564800	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr9:93563600-93565000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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