Variant report

Variant	rs567765976
Chromosome Location	chr12:120427951-120427952
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	MXI1	chr12:120426469-120428138	HepG2	liver:	n/a	n/a
2	MXI1	chr12:120426966-120428127	IMR90	lung:	n/a	n/a
3	REST	chr12:120427532-120428267	Hela-S3	cervix:	n/a	n/a
4	MAX	chr12:120426094-120427990	A549	lung:	n/a	chr12:120426607-120426617 chr12:120426330-120426339
5	REST	chr12:120427512-120428129	U87	brain:	n/a	n/a
6	TAF1	chr12:120427586-120428042	ECC-1	luminal epithelium:	n/a	n/a
7	REST	chr12:120426955-120428239	HL-60	blood:	n/a	chr12:120426995-120427005
8	REST	chr12:120426889-120428183	PANC-1	pancreas:	n/a	chr12:120426995-120427005
9	REST	chr12:120426283-120428343	U87	brain:	n/a	chr12:120426284-120426302 chr12:120426568-120426581 chr12:120426291-120426301 chr12:120426604-120426617 chr12:120426995-120427005
10	SMARCB1	chr12:120426344-120428043	Hela-S3	cervix:	n/a	n/a
11	TBP	chr12:120427867-120428149	H1-hESC	embryonic stem cell:	n/a	n/a
12	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
13	REST	chr12:120427577-120428431	GM12878	blood:	n/a	n/a
14	MAX	chr12:120426147-120428260	MCF-7	breast:	n/a	chr12:120426607-120426617 chr12:120426330-120426339
15	MAX	chr12:120426385-120427986	ECC-1	luminal epithelium:	n/a	chr12:120426607-120426617
16	SIN3AK20	chr12:120427388-120428135	MCF-7	breast:	n/a	n/a
17	POLR2A	chr12:120427830-120428047	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr12:120426350-120428112	HepG2	liver:	n/a	chr12:120426607-120426617
19	REST	chr12:120427598-120428233	A549	lung:	n/a	n/a
20	REST	chr12:120426562-120427973	HepG2	liver:	n/a	chr12:120426568-120426581 chr12:120426604-120426617 chr12:120426995-120427005
21	RCOR1	chr12:120427544-120428098	IMR90	lung:	n/a	n/a
22	REST	chr12:120427620-120428236	PANC-1	pancreas:	n/a	n/a
23	ZNF263	chr12:120427666-120428417	HEK293-T-REx	kidney:	n/a	chr12:120428223-120428244
24	REST	chr12:120427529-120428113	U87	brain:	n/a	n/a
25	POLR2A	chr12:120427904-120428216	MCF-7	breast:	n/a	n/a
26	REST	chr12:120426248-120428496	MCF-7	breast:	n/a	chr12:120426284-120426302 chr12:120426568-120426581 chr12:120426291-120426301 chr12:120426604-120426617 chr12:120426995-120427005
27	HDAC2	chr12:120427489-120428243	MCF-7	breast:	n/a	n/a
28	TEAD4	chr12:120427592-120428044	A549	lung:	n/a	n/a
29	SIN3A	chr12:120426198-120428223	H1-hESC	embryonic stem cell:	n/a	chr12:120426288-120426302 chr12:120426818-120426829
30	REST	chr12:120426576-120428312	ECC-1	luminal epithelium:	n/a	chr12:120426604-120426617 chr12:120426995-120427005
31	REST	chr12:120426779-120428416	PFSK-1	brain:	n/a	chr12:120426995-120427005
32	MAX	chr12:120427512-120427958	K562	blood:	n/a	n/a
33	REST	chr12:120427592-120428237	MCF-7	breast:	n/a	n/a
34	REST	chr12:120426350-120428740	PFSK-1	brain:	n/a	chr12:120426568-120426581 chr12:120426604-120426617 chr12:120426995-120427005
35	REST	chr12:120427526-120428199	PANC-1	pancreas:	n/a	n/a
36	SIN3AK20	chr12:120427447-120428072	HCT-116	colon:	n/a	n/a
37	HMGN3	chr12:120427586-120427955	K562	blood:	n/a	n/a
38	REST	chr12:120427337-120428067	PANC-1	pancreas:	n/a	n/a
39	REST	chr12:120426696-120428360	PFSK-1	brain:	n/a	chr12:120426995-120427005
40	REST	chr12:120426074-120428554	H1-neurons	neurons:	n/a	chr12:120426284-120426302 chr12:120426568-120426581 chr12:120426291-120426301 chr12:120426604-120426617 chr12:120426995-120427005
41	REST	chr12:120426993-120428242	GM12878	blood:	n/a	chr12:120426995-120427005
42	REST	chr12:120426982-120428471	A549	lung:	n/a	chr12:120426995-120427005
43	POLR2A	chr12:120426255-120428298	H1-neurons	neurons:	n/a	n/a
44	SIN3AK20	chr12:120427288-120428840	MCF-7	breast:	n/a	n/a
45	SIN3AK20	chr12:120427574-120428138	HCT-116	colon:	n/a	n/a
46	REST	chr12:120426456-120428160	K562	blood:	n/a	chr12:120426568-120426581 chr12:120426604-120426617 chr12:120426995-120427005
47	SIN3AK20	chr12:120426440-120428262	PANC-1	pancreas:	n/a	n/a
48	SIN3AK20	chr12:120427579-120428006	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAX	chr12:120427536-120427951	ECC-1	luminal epithelium:	n/a	n/a
50	REST	chr12:120427594-120427969	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:120313729..120318058-chr12:120425281..120428238,3	K562	blood:
2	chr12:120427745..120429727-chr12:120729725..120731576,2	MCF-7	breast:
3	chr12:120426493..120428297-chr12:120534910..120538709,3	MCF-7	breast:
4	chr12:120426620..120429059-chr12:120727400..120730169,3	MCF-7	breast:
5	chr12:120427086..120431307-chr12:120435070..120439124,5	MCF-7	breast:
6	chr12:120424138..120428272-chr12:120728453..120731316,5	K562	blood:
7	chr12:120425209..120429306-chr12:120552934..120555400,5	MCF-7	breast:
8	chr12:120425404..120428200-chr12:120435927..120438924,2	K562	blood:
9	chr12:120426261..120428229-chr12:120638078..120640091,2	MCF-7	breast:

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	esv3421881	chr12:120426594-120429142	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS 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
15	esv16207	chr12:120426639-120427988	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers 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
16	esv1797666	chr12:120426666-120449259	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	esv1807589	chr12:120426666-120449259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	esv1850441	chr12:120426820-120428468	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh 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
19	nsv560424	chr12:120426820-120428468	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120426200-120428000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr12:120426200-120428000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:120426200-120428000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:120426200-120428000	Active TSS	Sigmoid Colon	Sigmoid Colon
5	chr12:120426200-120428200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr12:120426200-120428200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:120426200-120428200	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr12:120426200-120428400	Active TSS	Rectal Smooth Muscle	rectum
9	chr12:120426200-120428600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr12:120426200-120429400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:120426400-120428000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:120426400-120428000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:120426400-120428000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:120426400-120428000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr12:120426400-120428000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:120426400-120428000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:120426400-120428000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:120426400-120428000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:120426400-120428000	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr12:120426400-120428000	Active TSS	Brain Germinal Matrix	brain
21	chr12:120426400-120428000	Active TSS	Fetal Intestine Small	intestine
22	chr12:120426400-120428000	Active TSS	Hela-S3	cervix
23	chr12:120426400-120428000	Active TSS	HSMMtube	muscle
24	chr12:120426400-120428200	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr12:120426400-120428200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:120426400-120428200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:120426400-120428200	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr12:120426400-120428400	Active TSS	Fetal Kidney	kidney
29	chr12:120426400-120429000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:120426400-120429000	Active TSS	Esophagus	oesophagus
31	chr12:120426600-120428000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:120426600-120428000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:120426600-120428000	Active TSS	Primary T cells fromperipheralblood	blood
34	chr12:120426600-120428000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr12:120426600-120428000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr12:120426600-120428000	Active TSS	Brain Angular Gyrus	brain
37	chr12:120426600-120428000	Active TSS	Brain Substantia Nigra	brain
38	chr12:120426600-120428000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr12:120426600-120428000	Active TSS	Small Intestine	intestine
40	chr12:120426600-120428000	Active TSS	GM12878-XiMat	blood
41	chr12:120426600-120428000	Active TSS	HepG2	liver
42	chr12:120426600-120428200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr12:120426600-120428200	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr12:120426600-120428200	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr12:120426600-120428200	Active TSS	Fetal Brain Female	brain
46	chr12:120426800-120428000	Active TSS	Fetal Muscle Leg	muscle
47	chr12:120426800-120428000	Active TSS	Gastric	stomach
48	chr12:120426800-120428000	Active TSS	Right Atrium	heart
49	chr12:120426800-120428200	Active TSS	Brain Anterior Caudate	brain
50	chr12:120426800-120428400	Active TSS	Lung	lung

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