Variant report

Variant	rs532274449
Chromosome Location	chr9:117373189-117373190
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	HCFC1	chr9:117372765-117374497	K562	blood:	n/a	n/a
2	POLR2A	chr9:117373163-117373704	GM12892	blood:	n/a	n/a
3	CBX3	chr9:117373089-117373647	K562	blood:	n/a	n/a
4	POLR2A	chr9:117373186-117373741	GM12891	blood:	n/a	n/a
5	MAX	chr9:117373023-117373942	H1-hESC	embryonic stem cell:	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
6	POLR2A	chr9:117373187-117375071	GM18505	blood:	n/a	n/a
7	MAX	chr9:117373043-117375259	MCF-7	breast:	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
8	POLR2A	chr9:117372694-117376306	GM12878	blood:	n/a	n/a
9	RCOR1	chr9:117372865-117373680	K562	blood:	n/a	n/a
10	POLR2A	chr9:117372677-117374910	Hela-S3	cervix:	n/a	n/a
11	MXI1	chr9:117372626-117375023	SK-N-SH	brain:	n/a	n/a
12	POU2F2	chr9:117373128-117373760	GM12878	blood:	n/a	n/a
13	POLR2A	chr9:117373133-117374299	K562	blood:	n/a	n/a
14	MAX	chr9:117373091-117373703	H1-hESC	embryonic stem cell:	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
15	CEBPB	chr9:117372951-117373578	GM12878	blood:	n/a	n/a
16	MAX	chr9:117373111-117373821	ECC-1	luminal epithelium:	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
17	POLR2A	chr9:117372834-117374943	Raji	blood:	n/a	n/a
18	POLR2A	chr9:117372699-117374807	Hela-S3	cervix:	n/a	n/a
19	E2F6	chr9:117372787-117374298	K562	blood:	n/a	chr9:117373521-117373536 chr9:117373592-117373601 chr9:117373483-117373495
20	POLR2A	chr9:117372690-117375775	GM12878	blood:	n/a	n/a
21	POLR2A	chr9:117372812-117374632	K562	blood:	n/a	n/a
22	POLR2A	chr9:117372678-117374603	MCF10A-Er-Src	breast:	n/a	n/a
23	TAF1	chr9:117373160-117373973	GM12878	blood:	n/a	n/a
24	TBP	chr9:117373033-117374735	K562	blood:	n/a	n/a
25	MAX	chr9:117373046-117374615	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
26	POLR2A	chr9:117373179-117374465	GM18526	blood:	n/a	n/a
27	USF1	chr9:117373184-117373725	SK-N-SH	brain:	n/a	n/a
28	GABPA	chr9:117373186-117373804	K562	blood:	n/a	n/a
29	TBP	chr9:117372772-117373633	GM12878	blood:	n/a	n/a
30	POLR2A	chr9:117372785-117374526	K562	blood:	n/a	n/a
31	HCFC1	chr9:117372658-117375106	Hela-S3	cervix:	n/a	n/a
32	PML	chr9:117373032-117373669	K562	blood:	n/a	n/a
33	NFATC1	chr9:117372617-117373277	GM12878	blood:	n/a	chr9:117372873-117372887
34	JUN	chr9:117372535-117373839	K562	blood:	n/a	chr9:117373646-117373655
35	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
36	MYC	chr9:117373137-117374186	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
37	MAX	chr9:117373014-117374518	HCT-116	colon:	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
38	POLR2A	chr9:117373035-117373697	SK-N-MC	brain:	n/a	n/a
39	TEAD4	chr9:117373146-117373678	K562	blood:	n/a	n/a
40	POLR2A	chr9:117372719-117373666	K562	blood:	n/a	n/a
41	POLR2A	chr9:117372573-117376345	GM12878	blood:	n/a	n/a
42	HMGN3	chr9:117373034-117374367	K562	blood:	n/a	n/a
43	POLR2A	chr9:117373183-117374995	GM19193	blood:	n/a	n/a
44	MYC	chr9:117373182-117374428	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
45	USF2	chr9:117372861-117373632	Hela-S3	cervix:	n/a	n/a
46	JUND	chr9:117373084-117374828	K562	blood:	n/a	chr9:117373646-117373655
47	MAX	chr9:117373113-117374756	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
48	EP300	chr9:117373132-117373686	K562	blood:	n/a	chr9:117373586-117373602 chr9:117373590-117373606
49	NFATC1	chr9:117372826-117373588	GM12878	blood:	n/a	chr9:117372873-117372887
50	SETDB1	chr9:117372807-117373581	U2OS	brain:	n/a	n/a

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	chr6:31795413..31795934-chr9:117373017..117374000,2	Hela-S3	cervix:
4	chr9:117372569..117375010-chr9:117403560..117405565,3	MCF-7	breast:
5	chr9:117348104..117352194-chr9:117371141..117379325,14	K562	blood:
6	chr9:117346757..117362857-chr9:117372020..117377914,21	MCF-7	breast:
7	chr9:117262731..117268447-chr9:117369704..117378306,14	K562	blood:
8	chr9:117266234..117268906-chr9:117372659..117377270,6	K562	blood:
9	chr9:117265687..117267555-chr9:117372704..117375188,3	MCF-7	breast:
10	chr9:117346842..117352204-chr9:117370877..117374909,8	K562	blood:
11	chr9:117263907..117271703-chr9:117371218..117376768,10	MCF-7	breast:

Variant related genes	Relation type
C9orf91	TF binding region
ENSG00000095397	Chromatin interaction
ENSG00000136888	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000201749	Chromatin interaction
ENSG00000157693	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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117360000-117373200	Weak transcription	Aorta	Aorta
2	chr9:117360800-117373400	Weak transcription	Small Intestine	intestine
3	chr9:117361800-117373200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:117363400-117373200	Weak transcription	Gastric	stomach
5	chr9:117363400-117373400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr9:117363600-117373200	Weak transcription	Lung	lung
7	chr9:117364200-117373200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:117364400-117373200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr9:117364600-117373200	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:117366000-117373200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr9:117369200-117373200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:117369200-117373200	Weak transcription	NHLF	lung
13	chr9:117369400-117373200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:117369400-117373200	Weak transcription	Left Ventricle	heart
15	chr9:117369600-117373200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:117369600-117373200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr9:117369600-117373200	Weak transcription	Ovary	ovary
18	chr9:117369600-117374200	Weak transcription	Fetal Heart	heart
19	chr9:117369800-117373200	Weak transcription	Liver	Liver
20	chr9:117369800-117373200	Weak transcription	Pancreas	Pancrea
21	chr9:117370200-117373200	Weak transcription	HSMM	muscle
22	chr9:117370800-117373200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:117370800-117373400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:117372600-117373200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr9:117372600-117373200	Enhancers	Primary hematopoietic stem cells	blood
26	chr9:117372600-117373200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr9:117372600-117373200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:117372600-117373200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr9:117372600-117373200	Enhancers	Fetal Muscle Trunk	muscle
30	chr9:117372600-117373400	Flanking Active TSS	GM12878-XiMat	blood
31	chr9:117372600-117373400	Flanking Active TSS	Hela-S3	cervix
32	chr9:117372600-117373600	Flanking Active TSS	Dnd41	blood
33	chr9:117372600-117373600	Flanking Active TSS	K562	blood
34	chr9:117372600-117374200	Active TSS	Brain Cingulate Gyrus	brain
35	chr9:117372800-117373200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
36	chr9:117372800-117373200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:117372800-117373200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:117372800-117373200	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr9:117372800-117373200	Enhancers	Brain Germinal Matrix	brain
40	chr9:117372800-117373200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:117372800-117373200	ZNF genes & repeats	Fetal Kidney	kidney
42	chr9:117372800-117373200	Enhancers	Placenta	Placenta
43	chr9:117372800-117373200	Enhancers	Thymus	Thymus
44	chr9:117372800-117373200	Enhancers	HMEC	breast
45	chr9:117372800-117373200	Enhancers	Osteobl	bone
46	chr9:117372800-117373400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:117372800-117373400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:117372800-117373400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:117372800-117373400	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr9:117372800-117373400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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