Variant report

Variant	rs145404195
Chromosome Location	chr9:93563793-93563794
allele	A/G
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	POLR2A	chr9:93563792-93564285	HCT-116	colon:	n/a	n/a
2	MYC	chr9:93563759-93564562	K562	blood:	n/a	n/a
3	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
4	CTCF	chr9:93563720-93563870	GM12874	blood:	n/a	n/a
5	MYC	chr9:93563573-93564642	K562	blood:	n/a	n/a
6	POLR2A	chr9:93563717-93564499	MCF-7	breast:	n/a	n/a
7	POLR2A	chr9:93563396-93564672	GM12878	blood:	n/a	n/a
8	SPI1	chr9:93563606-93564528	GM12878	blood:	n/a	chr9:93564064-93564077
9	MAX	chr9:93563496-93564477	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr9:93563681-93564542	MCF-7	breast:	n/a	n/a
11	SPI1	chr9:93563774-93564239	GM12891	blood:	n/a	chr9:93564064-93564077
12	ELF1	chr9:93563783-93564354	MCF-7	breast:	n/a	chr9:93564064-93564077 chr9:93564103-93564112
13	TAF1	chr9:93563622-93564650	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr9:93563426-93564650	NB4	blood:	n/a	n/a
15	E2F6	chr9:93563712-93564118	A549	lung:	n/a	chr9:93563947-93563958 chr9:93563899-93563909 chr9:93564104-93564114 chr9:93563998-93564007 chr9:93564107-93564117
16	MAX	chr9:93563651-93564415	HCT-116	colon:	n/a	n/a
17	YY1	chr9:93563711-93564211	H1-hESC	embryonic stem cell:	n/a	chr9:93563998-93564007 chr9:93564031-93564045
18	POLR2A	chr9:93562803-93565322	GM12891	blood:	n/a	n/a
19	MAX	chr9:93563667-93564684	MCF-7	breast:	n/a	n/a
20	POLR2A	chr9:93563724-93564590	K562	blood:	n/a	n/a
21	CUX1	chr9:93563648-93563843	GM12878	blood:	n/a	n/a
22	MAX	chr9:93563540-93564755	ECC-1	luminal epithelium:	n/a	n/a
23	REST	chr9:93563598-93564615	HL-60	blood:	n/a	chr9:93564116-93564129
24	HMGN3	chr9:93563733-93564604	K562	blood:	n/a	n/a
25	POLR2A	chr9:93563442-93564778	PBDE	blood:	n/a	n/a
26	YY1	chr9:93563745-93564561	ECC-1	luminal epithelium:	n/a	chr9:93563998-93564007 chr9:93564031-93564045 chr9:93564403-93564412
27	MAX	chr9:93563787-93564499	K562	blood:	n/a	n/a
28	MYC	chr9:93563781-93564334	MCF-7	breast:	n/a	n/a
29	GABPA	chr9:93563761-93564324	MCF-7	breast:	n/a	n/a
30	POLR2A	chr9:93562865-93564666	GM19193	blood:	n/a	n/a
31	POLR2A	chr9:93563480-93564273	GM12878	blood:	n/a	n/a
32	POLR2A	chr9:93563622-93563816	K562	blood:	n/a	n/a
33	POLR2A	chr9:93563437-93564845	GM12892	blood:	n/a	n/a
34	E2F6	chr9:93563594-93564640	K562	blood:	n/a	chr9:93563947-93563958 chr9:93563899-93563909 chr9:93564104-93564114 chr9:93563998-93564007 chr9:93564107-93564117
35	RUNX3	chr9:93563662-93564523	GM12878	blood:	n/a	n/a
36	MAX	chr9:93563717-93564172	A549	lung:	n/a	n/a
37	UBTF	chr9:93563719-93564674	K562	blood:	n/a	n/a
38	POLR2A	chr9:93563646-93564437	ProgFib	skin:	n/a	n/a
39	BCLAF1	chr9:93563791-93564158	GM12878	blood:	n/a	chr9:93563897-93563910 chr9:93564106-93564119 chr9:93563994-93564007
40	POLR2A	chr9:93563436-93564784	GM18951	blood:	n/a	n/a
41	RCOR1	chr9:93563588-93564575	K562	blood:	n/a	n/a
42	POLR2A	chr9:93562858-93564727	GM12878	blood:	n/a	n/a
43	POLR2A	chr9:93562373-93564761	GM19099	blood:	n/a	n/a
44	TBP	chr9:93563544-93564487	H1-hESC	embryonic stem cell:	n/a	n/a
45	TAF1	chr9:93563730-93564581	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr9:93563468-93564665	GM18526	blood:	n/a	n/a
47	POLR2A	chr9:93563302-93565064	HL-60	blood:	n/a	n/a
48	POLR2A	chr9:93563017-93564724	NB4	blood:	n/a	n/a
49	MAX	chr9:93563501-93564142	H1-hESC	embryonic stem cell:	n/a	n/a
50	UBTF	chr9:93563678-93564701	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:93563778-93563828	HepG2	liver:	n/a
2	chr9:93563776-93563826	Hela-S3	cervix:	n/a
3	chr9:93563776-93563826	BE2_C	brain:	n/a
4	chr9:93563778-93563828	CMK	blood:	n/a
5	chr9:93563776-93563826	IMR90	lung:	fetal
6	chr9:93563778-93563828	HNPCEpiC	eye:	n/a
7	chr9:93563776-93563826	HAEpiC	amniotic membrane:	n/a
8	chr9:93563778-93563828	SK-N-MC	brain:	n/a
9	chr9:93563776-93563826	HCPEpiC	choroid plexus:	n/a
10	chr9:93563778-93563828	NH-A	brain:	n/a
11	chr9:93563778-93563828	HPAEpiC	pulmonary alveolar:	n/a
12	chr9:93563776-93563826	PANC-1	pancreas:	n/a
13	chr9:93563778-93563828	AG04450	lung:	fetal
14	chr9:93563778-93563828	LNCaP	prostate:	n/a
15	chr9:93563778-93563828	HRCEpiC	kidney:	n/a
16	chr9:93563776-93563826	HCF	heart:	n/a
17	chr9:93563778-93563828	HAEpiC	amniotic membrane:	n/a
18	chr9:93563776-93563826	HUVEC	blood vessel:	n/a
19	chr9:93563778-93563828	GM12878	blood:	n/a
20	chr9:93563776-93563826	HIPEpiC	eye:	n/a
21	chr9:93563778-93563828	AoSMC	blood vessel:	n/a
22	chr9:93563778-93563828	AG09309	skin:	n/a
23	chr9:93563776-93563826	HRE	kidney:	n/a
24	chr9:93563776-93563826	HEEpiC	esophagus:	n/a
25	chr9:93563778-93563828	ProgFib	skin:	n/a
26	chr9:93563776-93563826	AG09319	gingival:	n/a
27	chr9:93563776-93563826	HepG2	liver:	n/a
28	chr9:93563776-93563826	SKMC	muscle:	n/a
29	chr9:93563778-93563828	NT2-D1	testis:	n/a
30	chr9:93563778-93563828	HMEC	breast:	n/a
31	chr9:93563776-93563826	HRCEpiC	kidney:	n/a
32	chr9:93563778-93563828	GM12891	blood:	n/a
33	chr9:93563776-93563826	HCM	heart:	n/a
34	chr9:93563778-93563828	RPTEC	kidney:	n/a
35	chr9:93563776-93563826	SK-N-MC	brain:	n/a
36	chr9:93563778-93563828	A549	lung:	n/a
37	chr9:93563778-93563828	SK-N-SH	brain:	n/a
38	chr9:93563776-93563826	HRPEpiC	eye:	n/a
39	chr9:93563776-93563826	HCT-116	colon:	n/a
40	chr9:93563776-93563826	PrEC	prostate:	n/a
41	chr9:93563776-93563826	PFSK-1	brain:	n/a
42	chr9:93563776-93563826	NHBE	bronchial:	n/a
43	chr9:93563778-93563828	AG10803	skin:	n/a
44	chr9:93563778-93563828	MCF10A-Er-Src	breast:	n/a
45	chr9:93563776-93563826	H1-hESC	embryonic stem cell:	embryo
46	chr9:93563776-93563826	AG04449	skin:	fetal
47	chr9:93563776-93563826	AG09309	skin:	n/a
48	chr9:93563778-93563828	HRPEpiC	eye:	n/a
49	chr9:93563776-93563826	NB4	blood:	n/a
50	chr9:93563776-93563826	BJ	skin:	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
SYK	CpG island

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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93559000-93563800	Weak transcription	Gastric	stomach
2	chr9:93561200-93564000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr9:93562800-93563800	Enhancers	Spleen	Spleen
4	chr9:93563000-93563800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr9:93563000-93563800	Bivalent Enhancer	Brain Hippocampus Middle	brain
6	chr9:93563200-93563800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:93563200-93564000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:93563200-93564600	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr9:93563200-93568000	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr9:93563400-93563800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr9:93563400-93563800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:93563400-93563800	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr9:93563400-93563800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr9:93563400-93563800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr9:93563400-93563800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:93563400-93563800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
17	chr9:93563400-93563800	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr9:93563400-93563800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
19	chr9:93563400-93563800	Flanking Active TSS	Fetal Thymus	thymus
20	chr9:93563400-93563800	Flanking Active TSS	Pancreas	Pancrea
21	chr9:93563400-93563800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr9:93563400-93563800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr9:93563400-93563800	Flanking Active TSS	Stomach Mucosa	stomach
24	chr9:93563400-93563800	Flanking Active TSS	Thymus	Thymus
25	chr9:93563400-93563800	Flanking Active TSS	GM12878-XiMat	blood
26	chr9:93563400-93563800	Flanking Active TSS	K562	blood
27	chr9:93563400-93564000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr9:93563400-93564000	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr9:93563400-93564200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
30	chr9:93563400-93564200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
31	chr9:93563400-93564400	Bivalent/Poised TSS	Fetal Stomach	stomach
32	chr9:93563400-93564600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:93563400-93564600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:93563400-93564600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
35	chr9:93563400-93564600	Active TSS	Fetal Kidney	kidney
36	chr9:93563400-93564800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr9:93563400-93564800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr9:93563400-93564800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr9:93563400-93564800	Active TSS	Right Atrium	heart
40	chr9:93563400-93565000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr9:93563400-93565000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr9:93563400-93565200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr9:93563600-93563800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr9:93563600-93563800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
45	chr9:93563600-93563800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
46	chr9:93563600-93563800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:93563600-93563800	Bivalent Enhancer	Fetal Lung	lung
48	chr9:93563600-93563800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr9:93563600-93563800	Flanking Bivalent TSS/Enh	Placenta	Placenta
50	chr9:93563600-93563800	Flanking Bivalent TSS/Enh	Lung	lung

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