Variant report

Variant	rs555602035
Chromosome Location	chr9:101866474-101866475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:101866022-101868550	MCF10A-Er-Src	breast:	n/a	n/a
2	WRNIP1	chr9:101866423-101867122	GM12878	blood:	n/a	n/a
3	SIN3AK20	chr9:101866453-101867278	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTBP2	chr9:101866466-101867366	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAZ	chr9:101865057-101868900	IMR90	lung:	n/a	chr9:101867130-101867140 chr9:101867134-101867143 chr9:101867474-101867484 chr9:101866665-101866675
6	NR2F2	chr9:101866406-101867196	K562	blood:	n/a	n/a
7	CHD1	chr9:101865310-101870084	IMR90	lung:	n/a	n/a
8	POLR2A	chr9:101866445-101868365	K562	blood:	n/a	n/a
9	SMARCB1	chr9:101866464-101867562	Hela-S3	cervix:	n/a	n/a
10	MAZ	chr9:101866366-101868352	GM12878	blood:	n/a	chr9:101867130-101867140 chr9:101867134-101867143 chr9:101867474-101867484 chr9:101866665-101866675
11	SIN3A	chr9:101865909-101868515	H1-hESC	embryonic stem cell:	n/a	chr9:101866899-101866908 chr9:101866946-101866954 chr9:101865947-101865956 chr9:101867101-101867112
12	POLR2A	chr9:101865468-101870413	IMR90	lung:	n/a	n/a
13	EBF1	chr9:101866429-101866566	GM12878	blood:	n/a	n/a
14	POLR2A	chr9:101866197-101867580	GM12891	blood:	n/a	n/a
15	ELF1	chr9:101866431-101867525	GM12878	blood:	n/a	chr9:101867471-101867483
16	MYC	chr9:101866320-101866476	K562	blood:	n/a	n/a
17	GATA1	chr9:101866404-101867378	PBDE	blood:	n/a	n/a
18	MXI1	chr9:101865375-101868682	IMR90	lung:	n/a	n/a
19	POLR2A	chr9:101866437-101868321	A549	lung:	n/a	n/a
20	POLR2A	chr9:101865965-101869202	MCF10A-Er-Src	breast:	n/a	n/a
21	ZBTB7A	chr9:101866456-101866710	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:101866433-101866483	HAEpiC	amniotic membrane:	n/a
2	chr9:101866433-101866483	U87	brain:	n/a
3	chr9:101866433-101866483	HepG2	liver:	n/a
4	chr9:101866433-101866483	HIPEpiC	eye:	n/a
5	chr9:101866433-101866483	HCM	heart:	n/a
6	chr9:101866433-101866483	A549	lung:	n/a
7	chr9:101866433-101866483	ovcar-3	ovarian:	n/a
8	chr9:101866433-101866483	AG04449	skin:	fetal
9	chr9:101866433-101866483	T-47D	breast:	n/a
10	chr9:101866433-101866483	GM19239	blood:	n/a
11	chr9:101866433-101866483	CMK	blood:	n/a
12	chr9:101866433-101866483	AG09309	skin:	n/a
13	chr9:101866433-101866483	H1-hESC	embryonic stem cell:	embryo
14	chr9:101866433-101866483	SK-N-SH	brain:	n/a
15	chr9:101866433-101866483	K562	blood:	n/a
16	chr9:101866433-101866483	Jurkat	blood:	n/a
17	chr9:101866433-101866483	HUVEC	blood vessel:	n/a
18	chr9:101866433-101866483	MCF-7	breast:	n/a
19	chr9:101866433-101866483	NHBE	bronchial:	n/a
20	chr9:101866433-101866483	HPAEpiC	pulmonary alveolar:	n/a
21	chr9:101866433-101866483	HRCEpiC	kidney:	n/a
22	chr9:101866433-101866483	LNCaP	prostate:	n/a
23	chr9:101866433-101866483	GM12891	blood:	n/a
24	chr9:101866433-101866483	GM06990	blood:	n/a
25	chr9:101866433-101866483	GM12878	blood:	n/a
26	chr9:101866433-101866483	NHDF-neo	bronchial:	n/a
27	chr9:101866433-101866483	Hepatocyte	liver:	n/a
28	chr9:101866433-101866483	HCF	heart:	n/a
29	chr9:101866433-101866483	HRPEpiC	eye:	n/a
30	chr9:101866433-101866483	SKMC	muscle:	n/a
31	chr9:101866433-101866483	PrEC	prostate:	n/a
32	chr9:101866433-101866483	AG10803	skin:	n/a
33	chr9:101866433-101866483	AG04450	lung:	fetal
34	chr9:101866433-101866483	ProgFib	skin:	n/a
35	chr9:101866433-101866483	NH-A	brain:	n/a
36	chr9:101866433-101866483	HNPCEpiC	eye:	n/a
37	chr9:101866433-101866483	HEEpiC	esophagus:	n/a
38	chr9:101866433-101866483	Hela-S3	cervix:	n/a
39	chr9:101866433-101866483	HCT-116	colon:	n/a
40	chr9:101866433-101866483	HMEC	breast:	n/a
41	chr9:101866433-101866483	AoSMC	blood vessel:	n/a
42	chr9:101866433-101866483	HL-60	blood:	n/a
43	chr9:101866433-101866483	BJ	skin:	n/a
44	chr9:101866433-101866483	NB4	blood:	n/a
45	chr9:101866433-101866483	BE2_C	brain:	n/a
46	chr9:101866433-101866483	ECC-1	luminal epithelium:	n/a
47	chr9:101866433-101866483	SK-N-MC	brain:	n/a
48	chr9:101866433-101866483	SAEC	small airway:	n/a
49	chr9:101866433-101866483	HEK293	kidney:	embryo
50	chr9:101866433-101866483	AG09319	gingival:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:101866361..101869341-chr9:101886452..101890095,3	MCF-7	breast:
2	chr9:101608539..101611289-chr9:101866226..101869142,2	MCF-7	breast:
3	chr9:101865542..101868917-chr9:101887238..101894962,8	MCF-7	breast:
4	chr9:101632178..101635172-chr9:101866283..101867803,2	K562	blood:

No data

Variant related genes	Relation type
TGFBR1	TF binding region
TGFBR1	CpG island
ENSG00000119514	Chromatin interaction
ENSG00000106799	Chromatin interaction
ENSG00000267026	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101864400-101866600	Enhancers	Stomach Mucosa	stomach
2	chr9:101865000-101866600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:101865200-101866600	Weak transcription	Small Intestine	intestine
4	chr9:101865200-101867000	Flanking Active TSS	A549	lung
5	chr9:101865600-101866600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr9:101865800-101866600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
7	chr9:101865800-101866600	Enhancers	Fetal Lung	lung
8	chr9:101865800-101866600	Enhancers	Lung	lung
9	chr9:101865800-101866800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr9:101865800-101866800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr9:101865800-101867000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:101865800-101867000	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr9:101865800-101867000	Flanking Active TSS	Fetal Intestine Small	intestine
14	chr9:101865800-101867000	Flanking Active TSS	HepG2	liver
15	chr9:101865800-101867000	Flanking Active TSS	NHEK	skin
16	chr9:101866000-101866600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
17	chr9:101866000-101866600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr9:101866000-101866600	Bivalent Enhancer	Fetal Thymus	thymus
19	chr9:101866000-101866600	Enhancers	Pancreas	Pancrea
20	chr9:101866000-101867000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr9:101866000-101867000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:101866000-101867000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:101866000-101867000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:101866000-101867000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:101866000-101867000	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr9:101866000-101867000	Flanking Active TSS	Osteobl	bone
27	chr9:101866000-101868600	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr9:101866000-101868600	Active TSS	H1 Cell Line	embryonic stem cell
29	chr9:101866000-101868600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:101866000-101868800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr9:101866200-101866600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr9:101866200-101866600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr9:101866200-101866600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr9:101866200-101866600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:101866200-101866600	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr9:101866200-101866600	Enhancers	Dnd41	blood
37	chr9:101866200-101866800	Flanking Active TSS	Fetal Stomach	stomach
38	chr9:101866200-101866800	Flanking Active TSS	NHLF	lung
39	chr9:101866200-101867000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:101866200-101867000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:101866200-101867000	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr9:101866200-101867000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr9:101866200-101867000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:101866200-101867000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr9:101866200-101867000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr9:101866200-101867000	Flanking Active TSS	Fetal Brain Male	brain
47	chr9:101866200-101867000	Flanking Active TSS	K562	blood
48	chr9:101866200-101867000	Flanking Active TSS	NH-A	brain
49	chr9:101866200-101867200	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr9:101866200-101867200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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