Variant report

Variant	rs7045922
Chromosome Location	chr9:115912931-115912932
allele	C/T
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	RAD21	chr9:115912911-115913196	Hela-S3	cervix:	n/a	chr9:115913149-115913159
2	CTCF	chr9:115912926-115913260	K562	blood:	n/a	chr9:115913148-115913158 chr9:115913146-115913159
3	USF1	chr9:115912911-115913393	A549	lung:	n/a	chr9:115913230-115913241
4	CTCF	chr9:115912451-115913434	A549	lung:	n/a	chr9:115913148-115913158 chr9:115913146-115913159
5	MAX	chr9:115912876-115913678	HepG2	liver:	n/a	chr9:115913231-115913241 chr9:115913227-115913242 chr9:115913230-115913239 chr9:115913231-115913240 chr9:115913229-115913242 chr9:115913230-115913240 chr9:115913231-115913240 chr9:115913229-115913244 chr9:115913226-115913245 chr9:115913229-115913242 chr9:115913230-115913241
6	CBX3	chr9:115912885-115913315	K562	blood:	n/a	n/a
7	CTCF	chr9:115912894-115913911	SK-N-SH	brain:	n/a	chr9:115913148-115913158 chr9:115913562-115913575 chr9:115913146-115913159
8	CTCF	chr9:115912900-115913050	NHEK	skin:	n/a	n/a
9	CTCF	chr9:115912920-115913070	GM12872	blood:	n/a	n/a
10	CTCF	chr9:115912860-115913010	AG04450	lung:	n/a	n/a
11	CTCF	chr9:115912869-115913338	K562	blood:	n/a	chr9:115913148-115913158 chr9:115913146-115913159
12	MAX	chr9:115912858-115913666	ECC-1	luminal epithelium:	n/a	chr9:115913231-115913241 chr9:115913227-115913242 chr9:115913230-115913239 chr9:115913231-115913240 chr9:115913229-115913242 chr9:115913230-115913240 chr9:115913231-115913240 chr9:115913229-115913244 chr9:115913226-115913245 chr9:115913229-115913242 chr9:115913230-115913241
13	MYC	chr9:115912930-115913690	K562	blood:	n/a	chr9:115913231-115913241 chr9:115913227-115913242 chr9:115913230-115913239 chr9:115913231-115913240 chr9:115913229-115913242 chr9:115913230-115913240 chr9:115913231-115913240 chr9:115913229-115913244 chr9:115913226-115913245 chr9:115913229-115913242 chr9:115913230-115913241
14	ATF3	chr9:115912920-115913440	H1-hESC	embryonic stem cell:	n/a	chr9:115913211-115913220 chr9:115913220-115913240
15	TBP	chr9:115912795-115913462	K562	blood:	n/a	n/a
16	USF1	chr9:115912898-115913715	SK-N-SH	brain:	n/a	chr9:115913230-115913241 chr9:115913445-115913461
17	MAX	chr9:115912877-115913533	H1-hESC	embryonic stem cell:	n/a	chr9:115913231-115913241 chr9:115913227-115913242 chr9:115913230-115913239 chr9:115913231-115913240 chr9:115913229-115913242 chr9:115913230-115913240 chr9:115913231-115913240 chr9:115913229-115913244 chr9:115913226-115913245 chr9:115913229-115913242 chr9:115913230-115913241
18	YY1	chr9:115912843-115913431	ECC-1	luminal epithelium:	n/a	chr9:115913149-115913163
19	ZNF143	chr9:115912916-115913533	GM12878	blood:	n/a	chr9:115913193-115913211 chr9:115913193-115913202
20	HCFC1	chr9:115912922-115913487	K562	blood:	n/a	n/a
21	POLR2A	chr9:115912930-115913667	HL-60	blood:	n/a	n/a
22	CTCF	chr9:115912884-115913237	HepG2	liver:	n/a	chr9:115913148-115913158 chr9:115913146-115913159
23	ZNF384	chr9:115912921-115913234	K562	blood:	n/a	n/a
24	POLR2A	chr9:115912922-115913534	HCT-116	colon:	n/a	n/a
25	TCF12	chr9:115912904-115913550	ECC-1	luminal epithelium:	n/a	chr9:115913061-115913071
26	USF1	chr9:115912861-115913543	SK-N-SH	brain:	n/a	chr9:115913230-115913241 chr9:115913445-115913461
27	POLR2A	chr9:115912714-115913562	MCF10A-Er-Src	breast:	n/a	n/a
28	SIN3AK20	chr9:115912921-115913562	PANC-1	pancreas:	n/a	n/a
29	SIX5	chr9:115912845-115913367	A549	lung:	n/a	n/a
30	USF1	chr9:115912908-115913475	H1-hESC	embryonic stem cell:	n/a	chr9:115913230-115913241 chr9:115913445-115913461
31	RAD21	chr9:115912918-115913315	HepG2	liver:	n/a	chr9:115913149-115913159
32	EP300	chr9:115912831-115913610	ECC-1	luminal epithelium:	n/a	n/a
33	TBP	chr9:115912885-115913468	HepG2	liver:	n/a	n/a
34	ELF1	chr9:115912874-115913447	K562	blood:	n/a	chr9:115913038-115913051
35	ZBTB7A	chr9:115912924-115913706	ECC-1	luminal epithelium:	n/a	chr9:115913633-115913642 chr9:115913151-115913160 chr9:115913665-115913673
36	CUX1	chr9:115912913-115913107	GM12878	blood:	n/a	n/a
37	USF1	chr9:115912783-115913639	HCT-116	colon:	n/a	chr9:115913230-115913241 chr9:115913445-115913461
38	POLR2A	chr9:115912916-115913511	Raji	blood:	n/a	n/a
39	CREB1	chr9:115912892-115913715	HepG2	liver:	n/a	n/a
40	MYC	chr9:115912788-115913362	MCF10A-Er-Src	breast:	n/a	chr9:115913231-115913241 chr9:115913227-115913242 chr9:115913230-115913239 chr9:115913231-115913240 chr9:115913229-115913242 chr9:115913230-115913240 chr9:115913231-115913240 chr9:115913229-115913244 chr9:115913226-115913245 chr9:115913229-115913242 chr9:115913230-115913241
41	ZNF143	chr9:115912908-115913392	K562	blood:	n/a	chr9:115913193-115913211 chr9:115913193-115913202
42	MAX	chr9:115912848-115913504	A549	lung:	n/a	chr9:115913231-115913241 chr9:115913227-115913242 chr9:115913230-115913239 chr9:115913231-115913240 chr9:115913229-115913242 chr9:115913230-115913240 chr9:115913231-115913240 chr9:115913229-115913244 chr9:115913226-115913245 chr9:115913229-115913242 chr9:115913230-115913241
43	POLR2A	chr9:115912873-115913488	HCT-116	colon:	n/a	n/a
44	ETS1	chr9:115912855-115913704	K562	blood:	n/a	chr9:115913042-115913053 chr9:115913191-115913204 chr9:115913196-115913203
45	CTCF	chr9:115912900-115913299	A549	lung:	n/a	chr9:115913148-115913158 chr9:115913146-115913159
46	USF1	chr9:115912835-115913683	HCT-116	colon:	n/a	chr9:115913230-115913241 chr9:115913445-115913461
47	REST	chr9:115912875-115913826	H1-neurons	neurons:	n/a	chr9:115913447-115913460
48	CTCF	chr9:115912886-115913368	K562	blood:	n/a	chr9:115913148-115913158 chr9:115913146-115913159
49	MAX	chr9:115912905-115913611	ECC-1	luminal epithelium:	n/a	chr9:115913231-115913241 chr9:115913227-115913242 chr9:115913230-115913239 chr9:115913231-115913240 chr9:115913229-115913242 chr9:115913230-115913240 chr9:115913231-115913240 chr9:115913229-115913244 chr9:115913226-115913245 chr9:115913229-115913242 chr9:115913230-115913241
50	HCFC1	chr9:115912655-115913660	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:115872624..115875532-chr9:115912017..115913734,2	MCF-7	breast:
2	chr17:59470592..59472862-chr9:115912081..115913641,2	MCF-7	breast:
3	chr9:115875142..115875676-chr9:115912672..115913501,2	MCF-7	breast:
4	chr9:115912624..115913401-chr9:116037240..116038163,3	K562	blood:

Variant related genes	Relation type
SLC31A2	TF binding region
ENSG00000225684	Chromatin interaction
ENSG00000136875	Chromatin interaction
ENSG00000176386	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000231528	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12686011	0.81[ASN][1000 genomes]
rs73548382	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv831691	chr9:115754699-115929459	Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	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
5	nsv893743	chr9:115867276-115917783	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1051654	chr9:115881588-115935663	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv1035406	chr9:115883978-116003980	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv540201	chr9:115883978-116003980	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv615212	chr9:115891009-115915859	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv466507	chr9:115905850-115936903	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv615213	chr9:115905850-115936903	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115899000-115913000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:115900600-115913000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:115912000-115913000	Weak transcription	Spleen	Spleen
4	chr9:115912600-115913000	Flanking Active TSS	Brain Angular Gyrus	brain
5	chr9:115912600-115913000	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr9:115912600-115913000	Enhancers	HSMM	muscle
7	chr9:115912600-115913200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr9:115912600-115913200	Flanking Active TSS	Dnd41	blood
9	chr9:115912600-115913200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr9:115912600-115913800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr9:115912600-115913800	Active TSS	Stomach Smooth Muscle	stomach
12	chr9:115912600-115913800	Active TSS	GM12878-XiMat	blood
13	chr9:115912600-115913800	Active TSS	NH-A	brain
14	chr9:115912600-115914000	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr9:115912600-115914000	Active TSS	Colon Smooth Muscle	Colon
16	chr9:115912600-115914000	Active TSS	Fetal Brain Female	brain
17	chr9:115912600-115914200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:115912600-115914200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:115912600-115914200	Active TSS	A549	lung
20	chr9:115912600-115914400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr9:115912600-115915000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr9:115912800-115913000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr9:115912800-115913000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr9:115912800-115913000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr9:115912800-115913000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:115912800-115913000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:115912800-115913000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr9:115912800-115913000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr9:115912800-115913000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr9:115912800-115913000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr9:115912800-115913000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr9:115912800-115913000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr9:115912800-115913000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr9:115912800-115913000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:115912800-115913000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:115912800-115913000	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr9:115912800-115913000	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr9:115912800-115913000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr9:115912800-115913000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:115912800-115913000	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr9:115912800-115913000	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr9:115912800-115913000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr9:115912800-115913000	Active TSS	Fetal Brain Male	brain
44	chr9:115912800-115913000	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr9:115912800-115913000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr9:115912800-115913000	Enhancers	Stomach Mucosa	stomach
47	chr9:115912800-115913000	Flanking Active TSS	Hela-S3	cervix
48	chr9:115912800-115913000	Flanking Active TSS	HepG2	liver
49	chr9:115912800-115913000	Flanking Active TSS	HUVEC	blood vessel
50	chr9:115912800-115913000	Flanking Active TSS	K562	blood

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