Variant report

Variant	rs34991784
Chromosome Location	chr9:117372977-117372978
allele	C/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	MTA3	chr9:117372508-117373113	GM12878	blood:	n/a	n/a
2	HCFC1	chr9:117372765-117374497	K562	blood:	n/a	n/a
3	POLR2A	chr9:117372694-117376306	GM12878	blood:	n/a	n/a
4	RCOR1	chr9:117372865-117373680	K562	blood:	n/a	n/a
5	POLR2A	chr9:117372677-117374910	Hela-S3	cervix:	n/a	n/a
6	E2F4	chr9:117372813-117373001	MCF10A-Er-Src	breast:	n/a	n/a
7	MXI1	chr9:117372626-117375023	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr9:117372811-117373106	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr9:117372951-117373578	GM12878	blood:	n/a	n/a
10	POLR2A	chr9:117372834-117374943	Raji	blood:	n/a	n/a
11	POLR2A	chr9:117372699-117374807	Hela-S3	cervix:	n/a	n/a
12	E2F6	chr9:117372787-117374298	K562	blood:	n/a	chr9:117373521-117373536 chr9:117373592-117373601 chr9:117373483-117373495
13	POLR2A	chr9:117372690-117375775	GM12878	blood:	n/a	n/a
14	POLR2A	chr9:117372812-117374632	K562	blood:	n/a	n/a
15	POLR2A	chr9:117372678-117374603	MCF10A-Er-Src	breast:	n/a	n/a
16	TBP	chr9:117372772-117373633	GM12878	blood:	n/a	n/a
17	POLR2A	chr9:117372785-117374526	K562	blood:	n/a	n/a
18	HCFC1	chr9:117372658-117375106	Hela-S3	cervix:	n/a	n/a
19	NFATC1	chr9:117372617-117373277	GM12878	blood:	n/a	chr9:117372873-117372887
20	JUN	chr9:117372535-117373839	K562	blood:	n/a	chr9:117373646-117373655
21	MYC	chr9:117372915-117373732	K562	blood:	n/a	chr9:117373514-117373521 chr9:117373512-117373522 chr9:117373568-117373577 chr9:117373513-117373523 chr9:117373513-117373522 chr9:117373512-117373523 chr9:117373514-117373523 chr9:117373511-117373524
22	POLR2A	chr9:117372597-117373020	GM12891	blood:	n/a	n/a
23	POLR2A	chr9:117372719-117373666	K562	blood:	n/a	n/a
24	POLR2A	chr9:117372573-117376345	GM12878	blood:	n/a	n/a
25	ZNF143	chr9:117372779-117372979	GM12878	blood:	n/a	n/a
26	USF2	chr9:117372861-117373632	Hela-S3	cervix:	n/a	n/a
27	NFATC1	chr9:117372826-117373588	GM12878	blood:	n/a	chr9:117372873-117372887
28	SETDB1	chr9:117372807-117373581	U2OS	brain:	n/a	n/a
29	STAT3	chr9:117372766-117373146	GM12878	blood:	n/a	n/a
30	NFIC	chr9:117372495-117373690	GM12878	blood:	n/a	n/a
31	STAT5A	chr9:117372547-117373751	GM12878	blood:	n/a	n/a
32	POLR2A	chr9:117372742-117374368	K562	blood:	n/a	n/a
33	MYC	chr9:117372909-117374713	NB4	blood:	n/a	chr9:117373514-117373521 chr9:117373512-117373522 chr9:117373568-117373577 chr9:117373513-117373523 chr9:117373513-117373522 chr9:117373512-117373523 chr9:117373514-117373523 chr9:117373511-117373524
34	REST	chr9:117372976-117373655	A549	lung:	n/a	chr9:117373599-117373612
35	MAX	chr9:117372765-117375754	GM12878	blood:	n/a	chr9:117373514-117373521 chr9:117373512-117373522 chr9:117373568-117373577 chr9:117373513-117373523 chr9:117373513-117373522 chr9:117373512-117373523 chr9:117373514-117373523 chr9:117373511-117373524
36	RFX5	chr9:117372967-117373539	GM12878	blood:	n/a	n/a
37	POLR2A	chr9:117372721-117376079	GM12891	blood:	n/a	n/a
38	POLR2A	chr9:117372775-117374202	HepG2	liver:	n/a	n/a
39	POLR2A	chr9:117372426-117373716	GM12878	blood:	n/a	n/a
40	CHD2	chr9:117372928-117373675	K562	blood:	n/a	n/a
41	MAX	chr9:117372862-117374503	A549	lung:	n/a	chr9:117373514-117373521 chr9:117373512-117373522 chr9:117373568-117373577 chr9:117373513-117373523 chr9:117373513-117373522 chr9:117373512-117373523 chr9:117373514-117373523 chr9:117373511-117373524
42	MTA3	chr9:117372524-117373712	GM12878	blood:	n/a	n/a
43	MAX	chr9:117372926-117374420	K562	blood:	n/a	chr9:117373514-117373521 chr9:117373512-117373522 chr9:117373568-117373577 chr9:117373513-117373523 chr9:117373513-117373522 chr9:117373512-117373523 chr9:117373514-117373523 chr9:117373511-117373524
44	POLR2A	chr9:117372060-117376570	GM12878	blood:	n/a	n/a
45	E2F6	chr9:117372880-117373837	H1-hESC	embryonic stem cell:	n/a	chr9:117373521-117373536 chr9:117373592-117373601 chr9:117373483-117373495
46	E2F6	chr9:117372921-117373813	A549	lung:	n/a	chr9:117373521-117373536 chr9:117373592-117373601 chr9:117373483-117373495
47	RCOR1	chr9:117372909-117373626	GM12878	blood:	n/a	n/a
48	CHD1	chr9:117372571-117374659	GM12878	blood:	n/a	n/a
49	ELK1	chr9:117372972-117373637	GM12878	blood:	n/a	n/a
50	MAX	chr9:117372965-117374625	Hela-S3	cervix:	n/a	chr9:117373514-117373521 chr9:117373512-117373522 chr9:117373568-117373577 chr9:117373513-117373523 chr9:117373513-117373522 chr9:117373512-117373523 chr9:117373514-117373523 chr9:117373511-117373524

No.	Distal block	Cell Line	Cell type
1	chr9:117349336..117350972-chr9:117372211..117374265,2	MCF-7	breast:
2	chr9:117372326..117374917-chr9:117375396..117377851,3	K562	blood:
3	chr9:117372569..117375010-chr9:117403560..117405565,3	MCF-7	breast:
4	chr9:117348104..117352194-chr9:117371141..117379325,14	K562	blood:
5	chr9:117346757..117362857-chr9:117372020..117377914,21	MCF-7	breast:
6	chr9:117262731..117268447-chr9:117369704..117378306,14	K562	blood:
7	chr9:117266234..117268906-chr9:117372659..117377270,6	K562	blood:
8	chr9:117265687..117267555-chr9:117372704..117375188,3	MCF-7	breast:
9	chr9:117346842..117352204-chr9:117370877..117374909,8	K562	blood:
10	chr9:117263907..117271703-chr9:117371218..117376768,10	MCF-7	breast:

Variant related genes	Relation type
C9orf91	TF binding region
ENSG00000201749	Chromatin interaction
ENSG00000095397	Chromatin interaction
ENSG00000157693	Chromatin interaction
ENSG00000136888	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051544	chr9:116944940-117443031	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
2	nsv540203	chr9:116944940-117443031	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv1048093	chr9:116945025-117456210	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
4	nsv1050991	chr9:116953739-117442999	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv1046311	chr9:116953739-117447142	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
6	nsv1052877	chr9:116953739-117456210	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv1039681	chr9:116953739-117457158	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
8	nsv1051987	chr9:116955841-117453668	Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
9	nsv1044374	chr9:116955841-117460150	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
10	nsv466534	chr9:116956268-117455810	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	157 gene(s)	inside rSNPs	diseases
11	nsv615234	chr9:116956268-117455810	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
12	nsv1048817	chr9:116957958-117456210	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
13	nsv615236	chr9:116958144-117455810	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
14	nsv466535	chr9:116958144-117456175	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
15	nsv615237	chr9:116958144-117456175	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv615238	chr9:116958144-117458475	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
17	nsv430094	chr9:116958446-117456446	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
18	nsv1053756	chr9:116975934-117443031	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
19	nsv540204	chr9:116975934-117443031	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
20	nsv1047704	chr9:116978041-117399362	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
21	nsv540205	chr9:116978041-117399362	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
22	nsv530950	chr9:117009156-117399361	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
23	nsv916139	chr9:117009169-117399454	Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
24	nsv530951	chr9:117032675-117439804	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
25	nsv831694	chr9:117328640-117502785	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
26	esv3373120	chr9:117372756-117375304	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117356200-117373000	Weak transcription	Stomach Mucosa	stomach
2	chr9:117360000-117373000	Weak transcription	Right Ventricle	heart
3	chr9:117360000-117373200	Weak transcription	Aorta	Aorta
4	chr9:117360800-117373400	Weak transcription	Small Intestine	intestine
5	chr9:117361200-117373000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr9:117361800-117373000	Weak transcription	Colonic Mucosa	Colon
7	chr9:117361800-117373200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:117362800-117373000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr9:117362800-117373000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr9:117363400-117373200	Weak transcription	Gastric	stomach
11	chr9:117363400-117373400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:117363600-117373200	Weak transcription	Lung	lung
13	chr9:117363800-117373000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr9:117364200-117373200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:117364400-117373000	Weak transcription	Fetal Intestine Small	intestine
16	chr9:117364400-117373200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:117364600-117373200	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:117365800-117373000	Weak transcription	NHEK	skin
19	chr9:117366000-117373200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr9:117369000-117373000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr9:117369200-117373000	Weak transcription	HUVEC	blood vessel
22	chr9:117369200-117373000	Weak transcription	NH-A	brain
23	chr9:117369200-117373200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:117369200-117373200	Weak transcription	NHLF	lung
25	chr9:117369400-117373200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr9:117369400-117373200	Weak transcription	Left Ventricle	heart
27	chr9:117369600-117373000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:117369600-117373000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr9:117369600-117373000	Weak transcription	NHDF-Ad	bronchial
30	chr9:117369600-117373200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:117369600-117373200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr9:117369600-117373200	Weak transcription	Ovary	ovary
33	chr9:117369600-117374200	Weak transcription	Fetal Heart	heart
34	chr9:117369800-117373000	Enhancers	Primary B cells from peripheral blood	blood
35	chr9:117369800-117373200	Weak transcription	Liver	Liver
36	chr9:117369800-117373200	Weak transcription	Pancreas	Pancrea
37	chr9:117370200-117373200	Weak transcription	HSMM	muscle
38	chr9:117370800-117373000	Weak transcription	HSMMtube	muscle
39	chr9:117370800-117373200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:117370800-117373400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:117371400-117373000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:117372600-117373000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr9:117372600-117373000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr9:117372600-117373000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:117372600-117373000	Enhancers	Brain Hippocampus Middle	brain
46	chr9:117372600-117373000	Bivalent Enhancer	Fetal Stomach	stomach
47	chr9:117372600-117373200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr9:117372600-117373200	Enhancers	Primary hematopoietic stem cells	blood
49	chr9:117372600-117373200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr9:117372600-117373200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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