Variant report

Variant	rs116424483
Chromosome Location	chr9:95571010-95571011
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	MAX	chr9:95570827-95571931	HCT-116	colon:	n/a	chr9:95571535-95571544 chr9:95571081-95571091 chr9:95571345-95571354
2	CTCF	chr9:95570980-95571130	A549	lung:	n/a	n/a
3	POLR2A	chr9:95570924-95571823	HCT-116	colon:	n/a	n/a
4	MAX	chr9:95570853-95571875	HCT-116	colon:	n/a	chr9:95571535-95571544 chr9:95571081-95571091 chr9:95571345-95571354
5	CTCF	chr9:95570989-95571636	H1-hESC	embryonic stem cell:	n/a	chr9:95571189-95571197 chr9:95571520-95571538 chr9:95571179-95571195 chr9:95571522-95571535
6	GABPA	chr9:95570928-95571738	MCF-7	breast:	n/a	chr9:95571497-95571511
7	MAX	chr9:95570923-95571865	ECC-1	luminal epithelium:	n/a	chr9:95571535-95571544 chr9:95571081-95571091 chr9:95571345-95571354
8	YY1	chr9:95570956-95571636	HCT-116	colon:	n/a	chr9:95571296-95571310
9	GABPA	chr9:95570873-95571750	H1-hESC	embryonic stem cell:	n/a	chr9:95571497-95571511
10	MAX	chr9:95570997-95571823	H1-hESC	embryonic stem cell:	n/a	chr9:95571535-95571544 chr9:95571081-95571091 chr9:95571345-95571354
11	RAD21	chr9:95570769-95571363	H1-hESC	embryonic stem cell:	n/a	chr9:95571189-95571198
12	E2F6	chr9:95570911-95571828	H1-hESC	embryonic stem cell:	n/a	chr9:95570983-95570993 chr9:95571300-95571310 chr9:95571161-95571172 chr9:95571501-95571510 chr9:95571085-95571095 chr9:95571297-95571307
13	GABPA	chr9:95570745-95571788	H1-hESC	embryonic stem cell:	n/a	chr9:95571497-95571511
14	GABPA	chr9:95570939-95571824	MCF-7	breast:	n/a	chr9:95571497-95571511
15	ZNF143	chr9:95570912-95571581	H1-hESC	embryonic stem cell:	n/a	chr9:95571085-95571095
16	CTCF	chr9:95570976-95571301	H1-hESC	embryonic stem cell:	n/a	chr9:95571189-95571197 chr9:95571179-95571195
17	SUZ12	chr9:95569398-95572352	NT2-D1	testis:	n/a	n/a
18	TCF3	chr9:95570905-95571758	GM12878	blood:	n/a	n/a
19	RAD21	chr9:95570929-95571450	MCF-7	breast:	n/a	chr9:95571189-95571198
20	TCF12	chr9:95570992-95571239	GM12878	blood:	n/a	n/a
21	MAX	chr9:95570946-95571845	MCF-7	breast:	n/a	chr9:95571535-95571544 chr9:95571081-95571091 chr9:95571345-95571354
22	POLR2A	chr9:95570928-95572269	HCT-116	colon:	n/a	n/a
23	TCF12	chr9:95570931-95571345	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr9:95570912-95571676	ECC-1	luminal epithelium:	n/a	chr9:95571521-95571534 chr9:95571522-95571532 chr9:95571494-95571508 chr9:95571189-95571198
25	ZEB1	chr9:95570957-95571370	GM12878	blood:	n/a	chr9:95571112-95571123
26	NFIC	chr9:95570967-95571701	ECC-1	luminal epithelium:	n/a	n/a
27	RAD21	chr9:95570725-95571753	H1-hESC	embryonic stem cell:	n/a	chr9:95571521-95571534 chr9:95571522-95571532 chr9:95571494-95571508 chr9:95571189-95571198
28	TCF12	chr9:95571003-95571293	H1-hESC	embryonic stem cell:	n/a	n/a
29	YY1	chr9:95570988-95571312	H1-hESC	embryonic stem cell:	n/a	chr9:95571296-95571310
30	HA-E2F1	chr9:95570825-95571819	MCF-7	breast:	n/a	chr9:95570983-95570993 chr9:95571300-95571310 chr9:95571161-95571172 chr9:95571501-95571510 chr9:95571085-95571095 chr9:95571297-95571307
31	CTCF	chr9:95570921-95571692	MCF-7	breast:	n/a	chr9:95571189-95571197 chr9:95571520-95571538 chr9:95571179-95571195 chr9:95571522-95571535
32	TCF12	chr9:95570899-95571786	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr9:95570970-95571028	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr9:95570925-95571869	H1-hESC	embryonic stem cell:	n/a	chr9:95571535-95571544 chr9:95571081-95571091 chr9:95571345-95571354
35	HDAC2	chr9:95570868-95571844	MCF-7	breast:	n/a	n/a
36	E2F6	chr9:95570970-95571859	H1-hESC	embryonic stem cell:	n/a	chr9:95570983-95570993 chr9:95571300-95571310 chr9:95571161-95571172 chr9:95571501-95571510 chr9:95571085-95571095 chr9:95571297-95571307
37	CTBP2	chr9:95570714-95571790	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:95570373..95571952-chr9:95637590..95640500,2	MCF-7	breast:
2	chr9:95431083..95433127-chr9:95569211..95571144,2	MCF-7	breast:
3	chr9:95570706..95571359-chr9:95719247..95719879,2	MCF-7	breast:
4	chr9:95431331..95434473-chr9:95569877..95572688,3	MCF-7	breast:

Variant related genes	Relation type
ANKRD19P	TF binding region
ENSG00000127080	Chromatin interaction
ENSG00000127081	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	nsv831654	chr9:95542920-95720961	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv972420	chr9:95566045-95588965	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3373736	chr9:95569656-95572504	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95569200-95571200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
2	chr9:95569400-95571400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr9:95569400-95571600	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr9:95569400-95572400	Bivalent Enhancer	Fetal Brain Male	brain
5	chr9:95569400-95572400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr9:95569400-95572400	Bivalent Enhancer	Fetal Thymus	thymus
7	chr9:95569600-95571200	Enhancers	Pancreas	Pancrea
8	chr9:95569600-95571400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
9	chr9:95569600-95572200	Bivalent Enhancer	Fetal Stomach	stomach
10	chr9:95569600-95572400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr9:95569600-95572400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
12	chr9:95569600-95572400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr9:95569600-95572400	Flanking Active TSS	Right Ventricle	heart
14	chr9:95569600-95572600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr9:95569800-95571200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
16	chr9:95569800-95571200	Enhancers	Gastric	stomach
17	chr9:95569800-95571600	Bivalent Enhancer	Placenta	Placenta
18	chr9:95569800-95572200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr9:95569800-95572400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:95569800-95572400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
21	chr9:95570000-95571800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
22	chr9:95570000-95571800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
23	chr9:95570000-95571800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
24	chr9:95570000-95572000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr9:95570000-95572200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
26	chr9:95570000-95572400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr9:95570000-95572400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
28	chr9:95570000-95572400	Bivalent Enhancer	Liver	Liver
29	chr9:95570000-95572600	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr9:95570200-95571200	Enhancers	Primary hematopoietic stem cells	blood
31	chr9:95570200-95571200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
32	chr9:95570200-95571200	Bivalent Enhancer	NH-A	brain
33	chr9:95570200-95571600	Bivalent/Poised TSS	A549	lung
34	chr9:95570200-95572000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr9:95570200-95572400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr9:95570200-95572400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
37	chr9:95570400-95571200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr9:95570400-95571400	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
39	chr9:95570400-95571800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:95570400-95571800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
41	chr9:95570400-95571800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:95570400-95571800	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr9:95570400-95572000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
44	chr9:95570400-95572200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:95570400-95572400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr9:95570400-95572400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr9:95570400-95572400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
48	chr9:95570600-95571200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:95570600-95571200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
50	chr9:95570600-95571200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion

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