Variant report

Variant	rs67756624
Chromosome Location	chr9:97681863-97681864
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	MAZ	chr9:97681716-97681958	K562	blood:	n/a	n/a
2	KAP1	chr9:97681553-97682380	U2OS	brain:	n/a	n/a
3	NR3C1	chr9:97681712-97682506	A549	lung:	n/a	n/a
4	FOSL2	chr9:97681742-97682473	MCF-7	breast:	n/a	n/a
5	CEBPB	chr9:97681783-97682480	A549	lung:	n/a	n/a
6	ZNF217	chr9:97681598-97682320	MCF-7	breast:	n/a	n/a
7	MAX	chr9:97681372-97685528	A549	lung:	n/a	n/a
8	NR2F2	chr9:97681546-97682489	MCF-7	breast:	n/a	n/a
9	SP1	chr9:97681342-97685519	A549	lung:	n/a	n/a
10	EGR1	chr9:97681819-97682710	HCT-116	colon:	n/a	n/a
11	TCF12	chr9:97681559-97682454	A549	lung:	n/a	n/a
12	MAX	chr9:97681561-97682515	MCF-7	breast:	n/a	n/a
13	NR2F2	chr9:97681541-97682485	MCF-7	breast:	n/a	n/a
14	FOXA2	chr9:97681570-97682572	A549	lung:	n/a	n/a
15	EP300	chr9:97681350-97683738	A549	lung:	n/a	chr9:97683352-97683366 chr9:97683353-97683367 chr9:97683357-97683371 chr9:97682882-97682896
16	FOSL1	chr9:97681762-97682503	HCT-116	colon:	n/a	n/a
17	EGR1	chr9:97681426-97682467	MCF-7	breast:	n/a	chr9:97681698-97681712 chr9:97681700-97681710 chr9:97681754-97681767 chr9:97681699-97681712 chr9:97681700-97681711 chr9:97681700-97681711 chr9:97681694-97681716 chr9:97681700-97681710
18	FOSL2	chr9:97681546-97685898	A549	lung:	n/a	n/a
19	EGR1	chr9:97681824-97682891	HCT-116	colon:	n/a	n/a
20	EGR1	chr9:97681524-97682504	MCF-7	breast:	n/a	chr9:97681698-97681712 chr9:97681700-97681710 chr9:97681754-97681767 chr9:97681699-97681712 chr9:97681700-97681711 chr9:97681700-97681711 chr9:97681694-97681716 chr9:97681700-97681710
21	EP300	chr9:97681755-97682205	T-47D	breast:	n/a	n/a
22	TEAD4	chr9:97681562-97682482	A549	lung:	n/a	n/a
23	JUND	chr9:97681580-97682451	A549	lung:	n/a	n/a
24	MYC	chr9:97681800-97682452	MCF10A-Er-Src	breast:	n/a	n/a
25	SP1	chr9:97681324-97685508	A549	lung:	n/a	n/a
26	ATF3	chr9:97681702-97682396	A549	lung:	n/a	n/a
27	CEBPB	chr9:97681706-97682320	A549	lung:	n/a	n/a
28	BCL3	chr9:97681559-97685224	A549	lung:	n/a	n/a
29	HDAC2	chr9:97681774-97682484	MCF-7	breast:	n/a	chr9:97682105-97682113
30	JUND	chr9:97681708-97682494	HCT-116	colon:	n/a	n/a
31	EGR1	chr9:97681530-97681883	K562	blood:	n/a	chr9:97681698-97681712 chr9:97681700-97681710 chr9:97681754-97681767 chr9:97681699-97681712 chr9:97681700-97681711 chr9:97681700-97681711 chr9:97681694-97681716 chr9:97681700-97681710
32	SIN3AK20	chr9:97681707-97682367	A549	lung:	n/a	n/a
33	ATF3	chr9:97681482-97682389	A549	lung:	n/a	n/a
34	GATA3	chr9:97681311-97685467	A549	lung:	n/a	n/a
35	GATA3	chr9:97681437-97682720	MCF-7	breast:	n/a	n/a
36	TFAP2C	chr9:97681742-97682252	Hela-S3	cervix:	n/a	chr9:97681982-97681997
37	FOS	chr9:97681824-97682479	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr9:97681619-97682007	A549	lung:	n/a	n/a
39	TCF12	chr9:97681294-97685653	A549	lung:	n/a	chr9:97685588-97685595
40	SIN3AK20	chr9:97681417-97682677	MCF-7	breast:	n/a	n/a
41	POLR2A	chr9:97681748-97682417	MCF10A-Er-Src	breast:	n/a	n/a
42	GATA3	chr9:97681637-97682406	MCF-7	breast:	n/a	n/a
43	GATA3	chr9:97681497-97682485	MCF-7	breast:	n/a	n/a
44	FOSL2	chr9:97681781-97682487	MCF-7	breast:	n/a	n/a
45	POLR2A	chr9:97681610-97681951	A549	lung:	n/a	n/a
46	MYC	chr9:97681840-97682448	MCF10A-Er-Src	breast:	n/a	n/a
47	SIX5	chr9:97681767-97685733	A549	lung:	n/a	n/a
48	MAX	chr9:97681433-97682475	A549	lung:	n/a	n/a
49	KAP1	chr9:97681562-97682315	HEK293	kidney:	n/a	n/a
50	E2F6	chr9:97681426-97682448	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:97674991..97691307-chr9:97751911..97773298,151	MCF-7	breast:
2	chr9:97679968..97683217-chr9:97810510..97812408,3	MCF-7	breast:
3	chr9:97572097..97590438-chr9:97672990..97690806,63	MCF-7	breast:
4	chr9:97671639..97694679-chr9:97760418..97786060,142	MCF-7	breast:
5	chr9:97678927..97686235-chr9:97889117..97896057,11	MCF-7	breast:
6	chr9:97558473..97564935-chr9:97678907..97687123,11	MCF-7	breast:
7	chr9:97626847..97629665-chr9:97678256..97681885,4	MCF-7	breast:
8	chr9:97562492..97588737-chr9:97670126..97691056,102	MCF-7	breast:
9	chr9:97654777..97656689-chr9:97679645..97682219,2	MCF-7	breast:
10	chr9:97661005..97662804-chr9:97680216..97681941,2	MCF-7	breast:
11	chr9:97661771..97663867-chr9:97680073..97682444,2	MCF-7	breast:

Variant related genes	Relation type
C9orf3	TF binding region
ENSG00000148120	Chromatin interaction
ENSG00000236095	Chromatin interaction
ENSG00000158169	Chromatin interaction
ENSG00000252153	Chromatin interaction
ENSG00000230815	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12551506	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12552838	0.88[AMR][1000 genomes]
rs12554043	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12554454	0.87[AMR][1000 genomes]
rs12555128	0.90[AMR][1000 genomes]
rs12555829	0.81[AMR][1000 genomes]
rs12683896	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382411	1.00[AMR][1000 genomes]
rs1382412	1.00[AMR][1000 genomes]
rs1542108	0.82[AMR][1000 genomes]
rs16911834	0.88[AMR][1000 genomes]
rs16911856	0.91[AMR][1000 genomes]
rs16911862	0.90[AMR][1000 genomes]
rs1904201	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2026399	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2095069	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104888	0.90[AMR][1000 genomes]
rs35322834	0.90[AMR][1000 genomes]
rs41316526	1.00[AMR][1000 genomes]
rs4743972	0.82[AMR][1000 genomes]
rs4743973	0.82[AMR][1000 genomes]
rs6479579	0.82[AMR][1000 genomes]
rs66642068	1.00[AMR][1000 genomes]
rs66863985	1.00[AMR][1000 genomes]
rs66993340	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67134693	0.81[AMR][1000 genomes]
rs67490803	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7029570	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7046900	0.88[AMR][1000 genomes]
rs72748596	0.90[AMR][1000 genomes]
rs72748601	0.88[AMR][1000 genomes]
rs72750335	0.90[AMR][1000 genomes]
rs72750346	0.84[AMR][1000 genomes]
rs73538177	1.00[AMR][1000 genomes]
rs73540087	0.81[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97660800-97702400	Weak transcription	Primary B cells from cord blood	blood
2	chr9:97661600-97686200	Weak transcription	Primary T cells from cord blood	blood
3	chr9:97670600-97766000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr9:97671000-97684200	Weak transcription	Small Intestine	intestine
5	chr9:97675000-97684400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:97675400-97684000	Weak transcription	Psoas Muscle	Psoas
7	chr9:97676600-97683000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:97676600-97684200	Weak transcription	Colonic Mucosa	Colon
9	chr9:97676800-97683400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:97677000-97684000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr9:97677200-97682000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:97677200-97682000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:97677200-97682600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:97677200-97682600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:97677400-97688600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:97678000-97682600	Weak transcription	Brain Germinal Matrix	brain
17	chr9:97678000-97683000	Weak transcription	Fetal Intestine Large	intestine
18	chr9:97678000-97684400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr9:97678200-97682600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr9:97679000-97686400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr9:97679200-97683200	Enhancers	Stomach Mucosa	stomach
22	chr9:97679200-97687200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr9:97679400-97687000	Enhancers	Fetal Heart	heart
24	chr9:97679600-97682800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:97679600-97682800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr9:97679800-97682000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr9:97679800-97682000	Weak transcription	Brain Angular Gyrus	brain
28	chr9:97679800-97682000	Weak transcription	Brain Anterior Caudate	brain
29	chr9:97679800-97682000	Weak transcription	Fetal Kidney	kidney
30	chr9:97679800-97684000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:97679800-97684000	Weak transcription	Fetal Intestine Small	intestine
32	chr9:97679800-97684200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:97679800-97684400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr9:97679800-97684400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr9:97679800-97686200	Weak transcription	Fetal Thymus	thymus
36	chr9:97680000-97682000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr9:97680000-97683000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr9:97680000-97684200	Weak transcription	Fetal Brain Male	brain
39	chr9:97680000-97687600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:97680200-97688000	Weak transcription	Gastric	stomach
41	chr9:97680400-97685800	Enhancers	Right Ventricle	heart
42	chr9:97680400-97698000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:97680600-97682000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:97680600-97682000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr9:97680600-97682800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:97680600-97683200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr9:97680600-97685000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr9:97680600-97686400	Enhancers	Ovary	ovary
49	chr9:97680600-97700000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:97680800-97682800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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