Variant report

Variant	rs7980464
Chromosome Location	chr12:120426469-120426470
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	MXI1	chr12:120426469-120428138	HepG2	liver:	n/a	n/a
2	E2F6	chr12:120426465-120427347	K562	blood:	n/a	chr12:120426822-120426832 chr12:120426812-120426821 chr12:120426571-120426580 chr12:120426916-120426925 chr12:120426809-120426819 chr12:120427311-120427321
3	CTCF	chr12:120426225-120426536	A549	lung:	n/a	n/a
4	POLR2A	chr12:120426383-120427432	MCF-7	breast:	n/a	n/a
5	CTCF	chr12:120426301-120426555	GM19238	blood:	n/a	n/a
6	CTCF	chr12:120426380-120426530	HMEC	breast:	n/a	n/a
7	REST	chr12:120426212-120426641	PFSK-1	brain:	n/a	chr12:120426284-120426302 chr12:120426568-120426581 chr12:120426291-120426301 chr12:120426604-120426617
8	MAX	chr12:120426094-120427990	A549	lung:	n/a	chr12:120426607-120426617 chr12:120426330-120426339
9	CTCF	chr12:120426235-120427312	GM12878	blood:	n/a	chr12:120427019-120427032
10	POLR2A	chr12:120426319-120427223	HCT-116	colon:	n/a	n/a
11	POLR2A	chr12:120426329-120426629	MCF-7	breast:	n/a	n/a
12	CTCF	chr12:120426400-120426550	Caco-2	colon:	n/a	n/a
13	CTCF	chr12:120426297-120426762	Fibrobl	skin:	n/a	n/a
14	MYC	chr12:120426457-120426973	K562	blood:	n/a	chr12:120426607-120426617
15	CTCF	chr12:120426281-120426554	MCF-7	breast:	n/a	n/a
16	REST	chr12:120426283-120428343	U87	brain:	n/a	chr12:120426284-120426302 chr12:120426568-120426581 chr12:120426291-120426301 chr12:120426604-120426617 chr12:120426995-120427005
17	CTCF	chr12:120426320-120426470	AG04449	skin:	n/a	n/a
18	YY1	chr12:120426467-120427374	K562	blood:	n/a	chr12:120427337-120427348 chr12:120426809-120426823 chr12:120426604-120426618 chr12:120426571-120426580 chr12:120426800-120426814 chr12:120427313-120427322 chr12:120426864-120426878 chr12:120426803-120426817 chr12:120426568-120426582 chr12:120426812-120426826 chr12:120426813-120426827
19	MYC	chr12:120426462-120427020	K562	blood:	n/a	chr12:120426607-120426617
20	ZEB1	chr12:120426293-120427108	HepG2	liver:	n/a	chr12:120426927-120426938 chr12:120426926-120426938
21	NR2F2	chr12:120426299-120427122	MCF-7	breast:	n/a	n/a
22	EGR1	chr12:120426383-120427007	K562	blood:	n/a	chr12:120426797-120426811 chr12:120426801-120426811 chr12:120426801-120426812 chr12:120426607-120426617 chr12:120426571-120426581 chr12:120426606-120426616
23	ELK1	chr12:120426297-120427222	Hela-S3	cervix:	n/a	n/a
24	SMARCB1	chr12:120426344-120428043	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr12:120426333-120426552	GM19239	blood:	n/a	n/a
26	CTCF	chr12:120426304-120426540	NHEK	skin:	n/a	n/a
27	MAX	chr12:120426158-120426994	A549	lung:	n/a	chr12:120426607-120426617 chr12:120426330-120426339
28	CREB1	chr12:120426373-120427938	HepG2	liver:	n/a	n/a
29	TEAD4	chr12:120426264-120426607	H1-hESC	embryonic stem cell:	n/a	n/a
30	ZNF217	chr12:120426151-120426590	MCF-7	breast:	n/a	n/a
31	CTCF	chr12:120426400-120426550	GM12864	blood:	n/a	n/a
32	CTCF	chr12:120426315-120426536	MCF-7	breast:	n/a	n/a
33	CTCF	chr12:120426380-120426530	HUVEC	blood vessel:	n/a	n/a
34	HA-E2F1	chr12:120426277-120428003	MCF-7	breast:	n/a	chr12:120426822-120426832 chr12:120426812-120426821 chr12:120426571-120426580 chr12:120426916-120426925 chr12:120426809-120426819 chr12:120427311-120427321
35	CTCF	chr12:120426320-120426470	AG10803	skin:	n/a	n/a
36	MAX	chr12:120426147-120428260	MCF-7	breast:	n/a	chr12:120426607-120426617 chr12:120426330-120426339
37	CTCF	chr12:120426337-120426491	GM10248	blood:	n/a	n/a
38	CTCF	chr12:120426320-120426470	HMEC	breast:	n/a	n/a
39	CTCF	chr12:120426400-120426550	BJ	skin:	n/a	n/a
40	CTCF	chr12:120426460-120426610	A549	lung:	n/a	n/a
41	CTCF	chr12:120426320-120426470	HMF	breast:	n/a	n/a
42	CTCF	chr12:120426360-120426510	HepG2	liver:	n/a	n/a
43	BACH1	chr12:120426133-120427103	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr12:120426360-120426510	HCT-116	colon:	n/a	n/a
45	CTCF	chr12:120426326-120426511	GM12878	blood:	n/a	n/a
46	HCFC1	chr12:120426191-120427469	Hela-S3	cervix:	n/a	n/a
47	MAX	chr12:120426385-120427986	ECC-1	luminal epithelium:	n/a	chr12:120426607-120426617
48	ZNF263	chr12:120426086-120427432	HEK293-T-REx	kidney:	n/a	chr12:120426367-120426388 chr12:120427333-120427342
49	CTCF	chr12:120426360-120426510	HEK293	kidney:	n/a	n/a
50	FOSL2	chr12:120425995-120426586	A549	lung:	n/a	chr12:120426330-120426340 chr12:120426332-120426339 chr12:120426331-120426339 chr12:120426331-120426339

No.	Distal block	Cell Line	Cell type
1	chr12:120425735..120427312-chr12:120553344..120556119,2	MCF-7	breast:
2	chr12:120420153..120423656-chr12:120424541..120427660,4	MCF-7	breast:
3	chr12:120313729..120318058-chr12:120425281..120428238,3	K562	blood:
4	chr12:120425840..120426796-chr20:19097523..19098151,2	MCF-7	breast:
5	chr12:120424138..120428272-chr12:120728453..120731316,5	K562	blood:
6	chr12:120425209..120429306-chr12:120552934..120555400,5	MCF-7	breast:
7	chr12:120424699..120427677-chr12:120728453..120732318,6	K562	blood:
8	chr12:120420772..120424084-chr12:120424860..120426963,3	MCF-7	breast:
9	chr12:120425977..120426934-chr12:120517209..120518213,3	MCF-7	breast:
10	chr12:120425404..120428200-chr12:120435927..120438924,2	K562	blood:
11	chr12:120426261..120428229-chr12:120638078..120640091,2	MCF-7	breast:
12	chr12:120426002..120427624-chr12:120517341..120518989,2	MCF-7	breast:
13	chr12:120425546..120427435-chr12:120477512..120479258,2	MCF-7	breast:

Variant related genes	Relation type
CCDC64	TF binding region
ENSG00000089157	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000135127	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000122966	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000111737	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12311126	1.00[CEU][hapmap]
rs56836390	1.00[EUR][1000 genomes]
rs58682372	1.00[EUR][1000 genomes]
rs59643776	1.00[EUR][1000 genomes]
rs60175203	1.00[EUR][1000 genomes]
rs6490278	0.81[YRI][hapmap]
rs7139220	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7300790	1.00[EUR][1000 genomes]
rs73404500	1.00[EUR][1000 genomes]
rs73406722	1.00[EUR][1000 genomes]
rs73406751	1.00[EUR][1000 genomes]
rs73410812	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410821	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410841	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv510575	chr12:120303163-120437490	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv899554	chr12:120389613-120513625	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1805506	chr12:120419963-120427915	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	esv1819565	chr12:120419963-120427915	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	esv1830757	chr12:120419963-120427915	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv1838328	chr12:120419963-120427915	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv1835423	chr12:120420670-120427915	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	esv1841015	chr12:120420670-120427915	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv560399	chr12:120421825-120427177	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv560400	chr12:120421825-120427688	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv560401	chr12:120421825-120427915	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	nsv560402	chr12:120423472-120427457	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv560403	chr12:120423472-120427862	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	esv3421380	chr12:120424669-120428967	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
17	esv3424419	chr12:120426069-120428817	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
18	esv3327583	chr12:120426194-120428742	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
19	nsv560404	chr12:120426469-120427403	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
20	nsv560405	chr12:120426469-120427457	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
21	nsv560406	chr12:120426469-120427746	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
22	esv1792829	chr12:120426469-120427915	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
23	esv1798842	chr12:120426469-120427915	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
24	nsv560407	chr12:120426469-120427915	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
25	esv1801020	chr12:120426469-120428468	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
26	esv1833694	chr12:120426469-120428468	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
27	esv1836343	chr12:120426469-120428468	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
28	nsv560408	chr12:120426469-120428468	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
29	esv1844134	chr12:120426469-120441443	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
30	esv1845761	chr12:120426469-120441443	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120426000-120426600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
2	chr12:120426000-120426600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr12:120426000-120426600	Flanking Active TSS	Brain Hippocampus Middle	brain
4	chr12:120426000-120426600	Bivalent Enhancer	Fetal Brain Male	brain
5	chr12:120426000-120426600	Bivalent Enhancer	Stomach Mucosa	stomach
6	chr12:120426000-120427400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:120426200-120426600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:120426200-120426600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:120426200-120426600	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr12:120426200-120426600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr12:120426200-120426600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr12:120426200-120426600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr12:120426200-120426600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:120426200-120426600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr12:120426200-120426600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:120426200-120426600	Bivalent Enhancer	Adipose Nuclei	Adipose
17	chr12:120426200-120426600	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr12:120426200-120426600	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr12:120426200-120426600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
20	chr12:120426200-120426600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr12:120426200-120426600	Flanking Active TSS	Fetal Brain Female	brain
22	chr12:120426200-120426600	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr12:120426200-120426600	Bivalent Enhancer	Fetal Lung	lung
24	chr12:120426200-120426600	Flanking Active TSS	Fetal Thymus	thymus
25	chr12:120426200-120426600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr12:120426200-120426600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr12:120426200-120426600	Enhancers	Small Intestine	intestine
28	chr12:120426200-120426600	Flanking Active TSS	Thymus	Thymus
29	chr12:120426200-120426600	Enhancers	Spleen	Spleen
30	chr12:120426200-120426600	Flanking Active TSS	GM12878-XiMat	blood
31	chr12:120426200-120426600	Flanking Active TSS	HepG2	liver
32	chr12:120426200-120426600	Flanking Active TSS	HMEC	breast
33	chr12:120426200-120426600	Flanking Active TSS	K562	blood
34	chr12:120426200-120426600	Enhancers	NHDF-Ad	bronchial
35	chr12:120426200-120426800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr12:120426200-120426800	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr12:120426200-120426800	Flanking Active TSS	Colonic Mucosa	Colon
38	chr12:120426200-120426800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr12:120426200-120426800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr12:120426200-120427000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:120426200-120427400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr12:120426200-120427400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
43	chr12:120426200-120427800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:120426200-120427800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:120426200-120428000	Active TSS	H1 Cell Line	embryonic stem cell
46	chr12:120426200-120428000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:120426200-120428000	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr12:120426200-120428000	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr12:120426200-120428200	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr12:120426200-120428200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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