Variant report

Variant	rs546299138
Chromosome Location	chr9:101867103-101867104
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	CTCF	chr9:101866877-101867283	K562	blood:	n/a	chr9:101867131-101867144
2	POLR2A	chr9:101866820-101867781	A549	lung:	n/a	n/a
3	MAX	chr9:101866706-101867425	GM12878	blood:	n/a	chr9:101867130-101867140 chr9:101867134-101867143
4	POLR2A	chr9:101866022-101868550	MCF10A-Er-Src	breast:	n/a	n/a
5	BHLHE40	chr9:101866750-101868278	GM12878	blood:	n/a	chr9:101867148-101867164 chr9:101867228-101867244 chr9:101867263-101867279
6	POLR2A	chr9:101866913-101867627	HCT-116	colon:	n/a	n/a
7	WRNIP1	chr9:101866423-101867122	GM12878	blood:	n/a	n/a
8	POLR2A	chr9:101866747-101867197	HL-60	blood:	n/a	n/a
9	YY1	chr9:101866940-101868105	GM12892	blood:	n/a	chr9:101867777-101867788 chr9:101867971-101867980 chr9:101867129-101867138 chr9:101867969-101867983 chr9:101867173-101867184 chr9:101867965-101867974 chr9:101867968-101867977 chr9:101867268-101867282 chr9:101867762-101867776
10	MAX	chr9:101866487-101868271	A549	lung:	n/a	chr9:101867130-101867140 chr9:101867134-101867143 chr9:101867474-101867484 chr9:101866665-101866675
11	TAF1	chr9:101866822-101867252	SK-N-SH	brain:	n/a	n/a
12	MAX	chr9:101866683-101868158	ECC-1	luminal epithelium:	n/a	chr9:101867130-101867140 chr9:101867134-101867143 chr9:101867474-101867484
13	HA-E2F1	chr9:101866770-101867455	MCF-7	breast:	n/a	chr9:101867129-101867138 chr9:101867192-101867202
14	MAX	chr9:101866686-101868352	H1-hESC	embryonic stem cell:	n/a	chr9:101867130-101867140 chr9:101867134-101867143 chr9:101867474-101867484
15	RFX5	chr9:101866652-101867519	HepG2	liver:	n/a	n/a
16	POLR2A	chr9:101866813-101867936	K562	blood:	n/a	n/a
17	POLR2A	chr9:101866920-101867549	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr9:101866980-101867130	GM12874	blood:	n/a	n/a
19	FOXP2	chr9:101867019-101867552	PFSK-1	brain:	n/a	n/a
20	CTCF	chr9:101866980-101867130	HPAF	blood vessel:	n/a	n/a
21	SIN3AK20	chr9:101867065-101867547	PANC-1	pancreas:	n/a	n/a
22	MYC	chr9:101866970-101867355	MCF10A-Er-Src	breast:	n/a	chr9:101867130-101867140 chr9:101867134-101867143
23	RCOR1	chr9:101866757-101867509	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr9:101866824-101867506	GM12892	blood:	n/a	n/a
25	YY1	chr9:101866890-101868111	GM12878	blood:	n/a	chr9:101867777-101867788 chr9:101867971-101867980 chr9:101867129-101867138 chr9:101867969-101867983 chr9:101867173-101867184 chr9:101867965-101867974 chr9:101867968-101867977 chr9:101867268-101867282 chr9:101867762-101867776
26	CTCF	chr9:101867000-101867150	NHEK	skin:	n/a	chr9:101867131-101867144
27	POLR2A	chr9:101866557-101867409	U87	brain:	n/a	n/a
28	TBP	chr9:101866932-101867435	Hela-S3	cervix:	n/a	n/a
29	SIN3AK20	chr9:101866990-101867214	HepG2	liver:	n/a	n/a
30	POLR2A	chr9:101867002-101867847	MCF-7	breast:	n/a	n/a
31	CTCF	chr9:101866980-101867130	GM12873	blood:	n/a	n/a
32	ZKSCAN1	chr9:101866768-101867127	Hela-S3	cervix:	n/a	n/a
33	SIN3AK20	chr9:101866453-101867278	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTBP2	chr9:101866466-101867366	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr9:101866726-101867231	A549	lung:	n/a	n/a
36	YY1	chr9:101866965-101867835	H1-hESC	embryonic stem cell:	n/a	chr9:101867777-101867788 chr9:101867129-101867138 chr9:101867173-101867184 chr9:101867268-101867282 chr9:101867762-101867776
37	RAD21	chr9:101866652-101867381	IMR90	lung:	n/a	chr9:101866898-101866912
38	POLR2A	chr9:101866782-101867552	GM12892	blood:	n/a	n/a
39	PAX5	chr9:101867073-101867496	GM12878	blood:	n/a	chr9:101867285-101867304
40	POLR2A	chr9:101866764-101868288	GM12892	blood:	n/a	n/a
41	POLR2A	chr9:101866883-101867763	HEK293	kidney:	n/a	n/a
42	ZBTB7A	chr9:101866748-101868375	K562	blood:	n/a	n/a
43	MAX	chr9:101866703-101867543	NB4	blood:	n/a	chr9:101867130-101867140 chr9:101867134-101867143 chr9:101867474-101867484
44	TAF1	chr9:101866685-101868322	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr9:101866739-101867539	A549	lung:	n/a	n/a
46	MAZ	chr9:101865057-101868900	IMR90	lung:	n/a	chr9:101867130-101867140 chr9:101867134-101867143 chr9:101867474-101867484 chr9:101866665-101866675
47	SMC3	chr9:101866794-101867424	Hela-S3	cervix:	n/a	n/a
48	YY1	chr9:101866888-101867971	K562	blood:	n/a	chr9:101867777-101867788 chr9:101867129-101867138 chr9:101867173-101867184 chr9:101867268-101867282 chr9:101867762-101867776
49	MYC	chr9:101866826-101867148	H1-hESC	embryonic stem cell:	n/a	chr9:101867130-101867140 chr9:101867134-101867143
50	MAZ	chr9:101866795-101867996	HepG2	liver:	n/a	chr9:101867130-101867140 chr9:101867134-101867143 chr9:101867474-101867484

No.	Distal block	Cell Line	Cell type
1	chr7:44162667..44163261-chr9:101867005..101867915,2	Hela-S3	cervix:
2	chr9:101866361..101869341-chr9:101886452..101890095,3	MCF-7	breast:
3	chr9:101866534..101869508-chr9:101907295..101910821,3	MCF-7	breast:
4	chr9:101608539..101611289-chr9:101866226..101869142,2	MCF-7	breast:
5	chr9:101865542..101868917-chr9:101887238..101894962,8	MCF-7	breast:
6	chr14:74959586..74960164-chr9:101867006..101867798,2	Hela-S3	cervix:
7	chr9:101632178..101635172-chr9:101866283..101867803,2	K562	blood:
8	chr15:99190239..99192114-chr9:101866946..101869163,2	MCF-7	breast:

Variant related genes	Relation type
TGFBR1	TF binding region
ENSG00000106799	Chromatin interaction
ENSG00000119655	Chromatin interaction
ENSG00000259424	Chromatin interaction
ENSG00000119514	Chromatin interaction
ENSG00000252942	Chromatin interaction
ENSG00000267026	Chromatin interaction
ENSG00000106628	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893618	chr9:101800106-101886071	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv893619	chr9:101835165-101936231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv3327607	chr9:101866156-101869104	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3370567	chr9:101866606-101868779	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	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	chr9:101866000-101868600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr9:101866000-101868600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr9:101866000-101868600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:101866000-101868800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr9:101866200-101867200	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr9:101866200-101867200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr9:101866200-101867200	Active TSS	Fetal Kidney	kidney
8	chr9:101866200-101867200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr9:101866200-101868400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr9:101866200-101868400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:101866200-101868400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:101866200-101868400	Active TSS	Brain Anterior Caudate	brain
13	chr9:101866200-101868600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:101866200-101868600	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr9:101866200-101868600	Active TSS	NHDF-Ad	bronchial
16	chr9:101866400-101867200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:101866400-101867200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr9:101866400-101868400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr9:101866400-101868400	Active TSS	Colon Smooth Muscle	Colon
20	chr9:101866400-101868400	Active TSS	Esophagus	oesophagus
21	chr9:101866400-101868400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr9:101866400-101868600	Active TSS	Brain Angular Gyrus	brain
23	chr9:101866400-101868600	Active TSS	Brain Germinal Matrix	brain
24	chr9:101866400-101868600	Active TSS	Ovary	ovary
25	chr9:101866400-101868800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr9:101866400-101868800	Active TSS	Right Ventricle	heart
27	chr9:101866400-101869200	Active TSS	Aorta	Aorta
28	chr9:101866600-101867200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr9:101866600-101868400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr9:101866600-101868400	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr9:101866600-101868400	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr9:101866600-101868400	Active TSS	Spleen	Spleen
33	chr9:101866600-101868600	Active TSS	Stomach Smooth Muscle	stomach
34	chr9:101866600-101868800	Active TSS	Fetal Brain Female	brain
35	chr9:101866600-101868800	Active TSS	Placenta Amnion	Placenta Amnion
36	chr9:101866600-101868800	Active TSS	Psoas Muscle	Psoas
37	chr9:101866600-101869400	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr9:101866800-101867200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:101866800-101867200	Active TSS	Fetal Heart	heart
40	chr9:101866800-101867200	Active TSS	Fetal Lung	lung
41	chr9:101866800-101867800	Active TSS	Thymus	Thymus
42	chr9:101866800-101868200	Active TSS	Brain Hippocampus Middle	brain
43	chr9:101866800-101868200	Active TSS	Fetal Stomach	stomach
44	chr9:101866800-101868400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:101866800-101868400	Active TSS	Brain Cingulate Gyrus	brain
46	chr9:101866800-101868400	Active TSS	Gastric	stomach
47	chr9:101866800-101868400	Active TSS	NHLF	lung
48	chr9:101866800-101868600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr9:101866800-101868600	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr9:101866800-101868800	Active TSS	Brain Substantia Nigra	brain

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