Variant report

Variant	rs139982664
Chromosome Location	chr9:116111806-116111807
allele	-/C
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	MAX	chr9:116111693-116112101	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZBTB7A	chr9:116111743-116112364	ECC-1	luminal epithelium:	n/a	n/a
3	TBP	chr9:116111447-116112067	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr9:116111665-116112032	HCT-116	colon:	n/a	chr9:116111759-116111773 chr9:116111811-116111820 chr9:116111808-116111819 chr9:116111788-116111797 chr9:116111805-116111819
5	GATA1	chr9:116111752-116113803	PBDE	blood:	n/a	chr9:116113356-116113366
6	POLR2A	chr9:116111742-116112199	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr9:116111653-116112091	ECC-1	luminal epithelium:	n/a	chr9:116111759-116111773 chr9:116111811-116111820 chr9:116111808-116111819 chr9:116111788-116111797 chr9:116111805-116111819
8	YY1	chr9:116111735-116112086	GM12892	blood:	n/a	chr9:116111759-116111773 chr9:116111811-116111820 chr9:116111808-116111819 chr9:116111788-116111797 chr9:116111805-116111819
9	YY1	chr9:116111704-116112050	ECC-1	luminal epithelium:	n/a	chr9:116111759-116111773 chr9:116111811-116111820 chr9:116111808-116111819 chr9:116111788-116111797 chr9:116111805-116111819
10	POLR2A	chr9:116111682-116112081	MCF-7	breast:	n/a	n/a
11	CCNT2	chr9:116111715-116111955	K562	blood:	n/a	chr9:116111788-116111797
12	TAF7	chr9:116111716-116112205	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr9:116111649-116112224	MCF-7	breast:	n/a	n/a
14	MAX	chr9:116111611-116112043	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr9:116111767-116112241	GM12878	blood:	n/a	n/a
16	POLR2A	chr9:116111602-116112152	HCT-116	colon:	n/a	n/a
17	YY1	chr9:116111778-116111870	HCT-116	colon:	n/a	chr9:116111811-116111820 chr9:116111808-116111819 chr9:116111788-116111797 chr9:116111805-116111819
18	POLR2A	chr9:116111626-116112155	ECC-1	luminal epithelium:	n/a	n/a
19	EP300	chr9:116111672-116112044	T-47D	breast:	n/a	chr9:116111707-116111723 chr9:116111706-116111722 chr9:116111753-116111769
20	ELF1	chr9:116111731-116112281	GM12878	blood:	n/a	chr9:116111807-116111819
21	E2F6	chr9:116111707-116111854	K562	blood:	n/a	chr9:116111811-116111820 chr9:116111807-116111816 chr9:116111788-116111797 chr9:116111802-116111812
22	ZEB1	chr9:116111643-116111941	GM12878	blood:	n/a	n/a
23	MAX	chr9:116111508-116112076	MCF-7	breast:	n/a	n/a
24	TCF3	chr9:116111657-116112064	GM12878	blood:	n/a	n/a
25	POLR2A	chr9:116111428-116112778	PBDE	blood:	n/a	n/a
26	TAF1	chr9:116111758-116112162	H1-hESC	embryonic stem cell:	n/a	n/a
27	HA-E2F1	chr9:116111340-116112421	MCF-7	breast:	n/a	chr9:116112072-116112087 chr9:116111811-116111820 chr9:116111807-116111816 chr9:116111788-116111797 chr9:116111802-116111812
28	HMGN3	chr9:116111735-116112040	K562	blood:	n/a	n/a
29	SIN3A	chr9:116111400-116112345	H1-hESC	embryonic stem cell:	n/a	chr9:116112144-116112155
30	POLR2A	chr9:116111793-116112472	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZBTB7A	chr9:116111787-116112259	ECC-1	luminal epithelium:	n/a	n/a
32	YY1	chr9:116111619-116112074	H1-hESC	embryonic stem cell:	n/a	chr9:116111759-116111773 chr9:116111811-116111820 chr9:116111808-116111819 chr9:116111788-116111797 chr9:116111805-116111819
33	PAX5	chr9:116111737-116112085	GM12892	blood:	n/a	n/a
34	POLR2A	chr9:116111637-116112235	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr9:116111522-116112473	HCT-116	colon:	n/a	n/a
36	YY1	chr9:116111694-116112118	HepG2	liver:	n/a	chr9:116111759-116111773 chr9:116111811-116111820 chr9:116111808-116111819 chr9:116111788-116111797 chr9:116111805-116111819
37	TCF12	chr9:116111649-116112496	ECC-1	luminal epithelium:	n/a	chr9:116111706-116111716
38	MAX	chr9:116111571-116112369	ECC-1	luminal epithelium:	n/a	n/a
39	TAF1	chr9:116111669-116112298	ECC-1	luminal epithelium:	n/a	n/a
40	TAF1	chr9:116111638-116112127	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr9:116111706-116112088	ECC-1	luminal epithelium:	n/a	n/a
42	ZEB1	chr9:116111613-116112265	GM12878	blood:	n/a	n/a
43	POLR2A	chr9:116111684-116112128	MCF-7	breast:	n/a	n/a
44	POLR2A	chr9:116111648-116111907	ProgFib	skin:	n/a	n/a
45	ZEB1	chr9:116111441-116112080	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:116109902..116113383-chr9:116162345..116166968,8	MCF-7	breast:
2	chr9:116060077..116063011-chr9:116109868..116112387,2	MCF-7	breast:
3	chr9:116110213..116113414-chr9:116171126..116174421,5	MCF-7	breast:
4	chr9:116111218..116114895-chr9:116159419..116161993,4	MCF-7	breast:
5	chr9:116108846..116117047-chr9:116126327..116140994,30	MCF-7	breast:
6	chr9:116109912..116111859-chr9:116161206..116163943,2	K562	blood:
7	chr9:116111778..116112420-chr9:116163200..116164122,2	MCF-7	breast:
8	chr9:116101294..116104058-chr9:116110419..116112658,2	K562	blood:

Variant related genes	Relation type
BSPRY	TF binding region
ENSG00000157653	Chromatin interaction
ENSG00000148229	Chromatin interaction
ENSG00000165188	Chromatin interaction
ENSG00000148218	Chromatin interaction
ENSG00000148225	Chromatin interaction
ENSG00000119431	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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv519849	chr9:116111407-116144973	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116108000-116112000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr9:116108200-116112000	Weak transcription	Brain Substantia Nigra	brain
3	chr9:116110200-116112000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr9:116111200-116112000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
5	chr9:116111200-116112400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr9:116111200-116112400	Bivalent/Poised TSS	Fetal Kidney	kidney
7	chr9:116111200-116112400	Active TSS	Rectal Smooth Muscle	rectum
8	chr9:116111200-116112600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr9:116111200-116112600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr9:116111200-116112600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr9:116111200-116112800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr9:116111200-116113000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr9:116111200-116113000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr9:116111200-116113000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr9:116111400-116112000	Active TSS	Primary B cells from cord blood	blood
16	chr9:116111400-116112000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr9:116111400-116112000	Enhancers	Liver	Liver
18	chr9:116111400-116112000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr9:116111400-116112200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
20	chr9:116111400-116112200	Active TSS	Duodenum Mucosa	Duodenum
21	chr9:116111400-116112200	Bivalent/Poised TSS	A549	lung
22	chr9:116111400-116112400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:116111400-116112600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr9:116111400-116112600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr9:116111400-116112800	Active TSS	Pancreas	Pancrea
26	chr9:116111400-116113600	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr9:116111400-116114000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr9:116111600-116112000	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr9:116111600-116112000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:116111600-116112000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:116111600-116112000	Active TSS	Adipose Nuclei	Adipose
32	chr9:116111600-116112000	Active TSS	Colonic Mucosa	Colon
33	chr9:116111600-116112000	Active TSS	Right Atrium	heart
34	chr9:116111600-116112000	Weak transcription	Stomach Mucosa	stomach
35	chr9:116111600-116112200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:116111600-116112200	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
37	chr9:116111600-116112200	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr9:116111600-116112200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr9:116111600-116112200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr9:116111600-116112200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:116111600-116112200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr9:116111600-116112200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
43	chr9:116111600-116112200	Active TSS	Fetal Intestine Small	intestine
44	chr9:116111600-116112200	Active TSS	Placenta	Placenta
45	chr9:116111600-116112200	Bivalent/Poised TSS	Fetal Stomach	stomach
46	chr9:116111600-116112200	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr9:116111600-116112200	Active TSS	GM12878-XiMat	blood
48	chr9:116111600-116112200	Bivalent/Poised TSS	HepG2	liver
49	chr9:116111600-116112400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr9:116111600-116112400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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