Variant report

Variant	rs545568641
Chromosome Location	chr9:137001048-137001049
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:338)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr9:137000098-137001417	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr9:137000391-137001959	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr9:137000122-137001241	U87	brain:	n/a	n/a
4	TAF1	chr9:137000398-137001388	GM12878	blood:	n/a	n/a
5	TCF7L2	chr9:137000482-137001160	HCT-116	colon:	n/a	n/a
6	YY1	chr9:137000955-137001139	HCT-116	colon:	n/a	n/a
7	TAF1	chr9:137000663-137001389	K562	blood:	n/a	n/a
8	POLR2A	chr9:136999908-137002325	Hela-S3	cervix:	n/a	n/a
9	UBTF	chr9:136999905-137001239	K562	blood:	n/a	n/a
10	RELA	chr9:137000553-137001233	GM19099	blood:	n/a	n/a
11	TBP	chr9:137000373-137001257	H1-hESC	embryonic stem cell:	n/a	n/a
12	STAT3	chr9:137000942-137001133	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr9:136999899-137003166	HepG2	liver:	n/a	n/a
14	JUND	chr9:137001003-137001155	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3AK20	chr9:137001011-137001285	HepG2	liver:	n/a	n/a
16	POLR2A	chr9:137000281-137001310	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr9:136999821-137001428	K562	blood:	n/a	n/a
18	NRF1	chr9:137000175-137001385	GM12878	blood:	n/a	chr9:137000877-137000888 chr9:137000507-137000516 chr9:137001185-137001199 chr9:137001188-137001197 chr9:137001188-137001199 chr9:137001158-137001167 chr9:137001188-137001202
19	ELF1	chr9:137000884-137001195	K562	blood:	n/a	n/a
20	CHD2	chr9:137000385-137001992	Hela-S3	cervix:	n/a	chr9:137001849-137001859 chr9:137001156-137001166
21	WRNIP1	chr9:137000941-137001090	GM12878	blood:	n/a	n/a
22	BHLHE40	chr9:137000753-137001250	HepG2	liver:	n/a	chr9:137001217-137001233
23	PML	chr9:137000236-137001333	GM12878	blood:	n/a	n/a
24	IRF1	chr9:136999999-137001295	K562	blood:	n/a	chr9:137001154-137001168
25	POLR2A	chr9:137000331-137002161	GM12878	blood:	n/a	n/a
26	HEY1	chr9:137000108-137001522	HepG2	liver:	n/a	chr9:137000546-137000561 chr9:137001328-137001343 chr9:137001359-137001374 chr9:137001202-137001217 chr9:137000612-137000627
27	ELF1	chr9:137000234-137001347	GM12878	blood:	n/a	n/a
28	TCF12	chr9:137000549-137001236	ECC-1	luminal epithelium:	n/a	n/a
29	FOXM1	chr9:137000757-137001176	GM12878	blood:	n/a	n/a
30	RCOR1	chr9:137000801-137001104	HepG2	liver:	n/a	n/a
31	POLR2A	chr9:136999710-137001492	K562	blood:	n/a	n/a
32	TBP	chr9:136999770-137001266	K562	blood:	n/a	n/a
33	POLR2A	chr9:137000880-137001392	HUVEC	blood vessel:	n/a	n/a
34	STAT1	chr9:137000302-137001184	GM12878	blood:	n/a	n/a
35	YY1	chr9:137000216-137001551	HepG2	liver:	n/a	chr9:137000546-137000557 chr9:137001204-137001218 chr9:137001220-137001234 chr9:137001203-137001214 chr9:137001158-137001167 chr9:137001203-137001212 chr9:137001206-137001215
36	MAZ	chr9:137000563-137001293	HepG2	liver:	n/a	n/a
37	TAF1	chr9:137000165-137001404	Hela-S3	cervix:	n/a	n/a
38	FOXP2	chr9:137000994-137001330	PFSK-1	brain:	n/a	n/a
39	RUNX3	chr9:137000520-137001149	GM12878	blood:	n/a	n/a
40	ELK1	chr9:137000891-137001184	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr9:137000193-137002010	GM19099	blood:	n/a	n/a
42	BCL3	chr9:137000637-137001219	A549	lung:	n/a	chr9:137001205-137001214 chr9:137001206-137001219
43	SIX5	chr9:137000709-137001229	A549	lung:	n/a	n/a
44	SIN3AK20	chr9:137001011-137001248	PFSK-1	brain:	n/a	n/a
45	POLR2A	chr9:137000031-137001443	HepG2	liver:	n/a	n/a
46	POLR2A	chr9:137000202-137001903	HUVEC	blood vessel:	n/a	n/a
47	MXI1	chr9:137000606-137001519	Hela-S3	cervix:	n/a	n/a
48	HCFC1	chr9:136999632-137002548	Hela-S3	cervix:	n/a	n/a
49	EP300	chr9:137000672-137001197	K562	blood:	n/a	chr9:137000739-137000755
50	NRF1	chr9:137000488-137001359	Hela-S3	cervix:	n/a	chr9:137000877-137000888 chr9:137000507-137000516 chr9:137001185-137001199 chr9:137001188-137001197 chr9:137001188-137001199 chr9:137001158-137001167 chr9:137001188-137001202

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:137001027-137001077	MCF10A-Er-Src	breast:	n/a
2	chr9:137001027-137001077	NHBE	bronchial:	n/a
3	chr9:137001027-137001077	HUVEC	blood vessel:	n/a
4	chr9:137001027-137001077	NHDF-neo	bronchial:	n/a
5	chr9:137001027-137001077	HPAEpiC	pulmonary alveolar:	n/a
6	chr9:137001027-137001077	HL-60	blood:	n/a
7	chr9:137001027-137001077	NT2-D1	testis:	n/a
8	chr9:137001027-137001077	GM12878	blood:	n/a
9	chr9:137001027-137001077	RPTEC	kidney:	n/a
10	chr9:137001027-137001077	CMK	blood:	n/a
11	chr9:137001027-137001077	SK-N-SH	brain:	n/a
12	chr9:137001027-137001077	H1-hESC	embryonic stem cell:	embryo
13	chr9:137001027-137001077	U87	brain:	n/a
14	chr9:137001027-137001077	HCF	heart:	n/a
15	chr9:137001027-137001077	MCF-7	breast:	n/a
16	chr9:137001027-137001077	SK-N-MC	brain:	n/a
17	chr9:137001027-137001077	BJ	skin:	n/a
18	chr9:137001027-137001077	AoSMC	blood vessel:	n/a
19	chr9:137001027-137001077	PrEC	prostate:	n/a
20	chr9:137001027-137001077	NH-A	brain:	n/a
21	chr9:137001027-137001077	GM06990	blood:	n/a
22	chr9:137001027-137001077	GM12891	blood:	n/a
23	chr9:137001027-137001077	AG04449	skin:	fetal
24	chr9:137001027-137001077	SK-N-SH_RA	brain:	n/a
25	chr9:137001027-137001077	SAEC	small airway:	n/a
26	chr9:137001027-137001077	K562	blood:	n/a
27	chr9:137001027-137001077	HepG2	liver:	n/a
28	chr9:137001027-137001077	PFSK-1	brain:	n/a
29	chr9:137001027-137001077	HRPEpiC	eye:	n/a
30	chr9:137001027-137001077	ECC-1	luminal epithelium:	n/a
31	chr9:137001027-137001077	T-47D	breast:	n/a
32	chr9:137001027-137001077	GM19239	blood:	n/a
33	chr9:137001027-137001077	HCT-116	colon:	n/a
34	chr9:137001027-137001077	HEK293	kidney:	embryo
35	chr9:137001027-137001077	ovcar-3	ovarian:	n/a
36	chr9:137001027-137001077	HMEC	breast:	n/a
37	chr9:137001027-137001077	Caco-2	colon:	n/a
38	chr9:137001027-137001077	Hepatocyte	liver:	n/a
39	chr9:137001027-137001077	HRE	kidney:	n/a
40	chr9:137001027-137001077	HRCEpiC	kidney:	n/a
41	chr9:137001027-137001077	ProgFib	skin:	n/a
42	chr9:137001027-137001077	HEEpiC	esophagus:	n/a
43	chr9:137001027-137001077	HCM	heart:	n/a
44	chr9:137001027-137001077	HAEpiC	amniotic membrane:	n/a
45	chr9:137001027-137001077	LNCaP	prostate:	n/a
46	chr9:137001027-137001077	Hela-S3	cervix:	n/a
47	chr9:137001027-137001077	AG10803	skin:	n/a
48	chr9:137001027-137001077	HNPCEpiC	eye:	n/a
49	chr9:137001027-137001077	BE2_C	brain:	n/a
50	chr9:137001027-137001077	SKMC	muscle:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:401149..403748-chr9:137000262..137001904,2	MCF-7	breast:
2	chr2:220091886..220094259-chr9:137000513..137003179,2	MCF-7	breast:
3	chr9:136930118..136934023-chr9:136998387..137002829,10	K562	blood:
4	chr9:136931194..136934944-chr9:136998387..137002829,6	K562	blood:
5	chr9:136999027..137003702-chr9:137026566..137032835,8	MCF-7	breast:
6	chr9:136930108..136935337-chr9:136999374..137002737,14	MCF-7	breast:
7	chr9:136919895..136922369-chr9:137000361..137002123,2	MCF-7	breast:
8	chr9:136999035..137002778-chr9:137027888..137031331,5	K562	blood:
9	chr9:136282958..136284963-chr9:136998714..137001684,2	K562	blood:
10	chr9:136889824..136891845-chr9:137000522..137002324,2	K562	blood:
11	chr9:136928987..136935981-chr9:136998799..137005312,16	MCF-7	breast:
12	chr9:136888792..136891646-chr9:137000403..137003499,3	MCF-7	breast:
13	chr9:136999192..137001560-chr9:137216028..137218729,4	MCF-7	breast:
14	chr9:137000678..137001573-chr9:137029002..137029689,2	Hela-S3	cervix:
15	chr9:137000635..137002837-chr9:137296498..137299052,2	MCF-7	breast:

No data

Variant related genes	Relation type
WDR5	TF binding region
ENSG00000273249	TF binding region
ENSG00000273249	CpG island
WDR5	CpG island
ENSG00000235106	Chromatin interaction
ENSG00000198925	Chromatin interaction
ENSG00000221676	Chromatin interaction
ENSG00000103126	Chromatin interaction
ENSG00000169925	Chromatin interaction
ENSG00000148300	Chromatin interaction
ENSG00000186350	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894138	chr9:136839840-137093168	Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv825148	chr9:136848471-137025632	Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1048571	chr9:136872166-137265444	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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 target site	50 gene(s)	inside rSNPs	diseases
4	nsv894148	chr9:136874066-137093168	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv894151	chr9:136887757-137397609	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv6751	chr9:136967475-137007131	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv894155	chr9:136969689-137364866	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
8	esv1793302	chr9:136990615-137390602	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
9	esv3392543	chr9:137000156-137002904	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv3444727	chr9:137000331-137002454	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136999400-137001600	Active TSS	Colonic Mucosa	Colon
2	chr9:136999600-137002000	Active TSS	Lung	lung
3	chr9:136999600-137002400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr9:136999800-137001800	Active TSS	Gastric	stomach
5	chr9:136999800-137002000	Active TSS	Left Ventricle	heart
6	chr9:136999800-137002400	Active TSS	Fetal Kidney	kidney
7	chr9:136999800-137002600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr9:136999800-137002600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:137000000-137001600	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr9:137000000-137002000	Active TSS	Esophagus	oesophagus
11	chr9:137000000-137002000	Active TSS	Fetal Intestine Small	intestine
12	chr9:137000000-137002000	Active TSS	Psoas Muscle	Psoas
13	chr9:137000000-137002000	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr9:137000000-137002200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:137000000-137002200	Active TSS	Ovary	ovary
16	chr9:137000000-137002200	Active TSS	NHDF-Ad	bronchial
17	chr9:137000000-137002400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr9:137000200-137001400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:137000200-137001600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:137000200-137001600	Active TSS	Primary T cells from cord blood	blood
21	chr9:137000200-137001600	Active TSS	Right Ventricle	heart
22	chr9:137000200-137001800	Active TSS	Brain Angular Gyrus	brain
23	chr9:137000200-137001800	Active TSS	Brain Substantia Nigra	brain
24	chr9:137000200-137001800	Active TSS	Fetal Brain Male	brain
25	chr9:137000200-137001800	Active TSS	Fetal Brain Female	brain
26	chr9:137000200-137002000	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr9:137000200-137002000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:137000200-137002000	Active TSS	Fetal Intestine Large	intestine
29	chr9:137000200-137002000	Active TSS	Fetal Lung	lung
30	chr9:137000200-137002000	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr9:137000200-137002000	Active TSS	Small Intestine	intestine
32	chr9:137000200-137002000	Active TSS	NHEK	skin
33	chr9:137000200-137002200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:137000200-137002200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:137000200-137002200	Active TSS	Colon Smooth Muscle	Colon
36	chr9:137000200-137002200	Active TSS	Pancreas	Pancrea
37	chr9:137000200-137002400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:137000200-137002400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr9:137000200-137002400	Active TSS	Aorta	Aorta
40	chr9:137000200-137002600	Active TSS	H9 Cell Line	embryonic stem cell
41	chr9:137000200-137002600	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr9:137000200-137002800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:137000200-137003200	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr9:137000400-137001400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:137000400-137001600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr9:137000400-137001600	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr9:137000400-137001600	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr9:137000400-137001600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr9:137000400-137001600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr9:137000400-137001600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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