Variant report

Variant	rs373552432
Chromosome Location	chr12:121974873-121974874
allele	A/C
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	E2F6	chr12:121974625-121975624	K562	blood:	n/a	chr12:121975551-121975565 chr12:121975135-121975147 chr12:121975528-121975537
2	MXI1	chr12:121973624-121976489	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr12:121974688-121975416	K562	blood:	n/a	n/a
4	RUNX3	chr12:121973725-121975930	GM12878	blood:	n/a	n/a
5	YY1	chr12:121974787-121975491	HepG2	liver:	n/a	chr12:121975132-121975143
6	E2F6	chr12:121974579-121975616	K562	blood:	n/a	chr12:121975551-121975565 chr12:121975135-121975147 chr12:121975528-121975537
7	POLR2A	chr12:121974661-121975538	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr12:121972301-121975787	GM12878	blood:	n/a	n/a
9	EBF1	chr12:121974358-121975769	GM12878	blood:	n/a	n/a
10	SMARCB1	chr12:121973841-121976449	Hela-S3	cervix:	n/a	n/a
11	ELF1	chr12:121973969-121975832	GM12878	blood:	n/a	chr12:121975821-121975830 chr12:121975526-121975538 chr12:121975106-121975118 chr12:121975222-121975233
12	GABPA	chr12:121974790-121975521	MCF-7	breast:	n/a	n/a
13	RCOR1	chr12:121974559-121975676	Hela-S3	cervix:	n/a	n/a
14	MAZ	chr12:121973926-121975373	K562	blood:	n/a	chr12:121975043-121975053 chr12:121974080-121974090
15	MYC	chr12:121974859-121974893	MCF-7	breast:	n/a	n/a
16	POLR2A	chr12:121974513-121975799	HCT-116	colon:	n/a	n/a
17	POLR2A	chr12:121973547-121975876	GM12892	blood:	n/a	n/a
18	POLR2A	chr12:121973653-121976782	GM19193	blood:	n/a	n/a
19	POLR2A	chr12:121974851-121975401	A549	lung:	n/a	n/a
20	CHD2	chr12:121974710-121975720	Hela-S3	cervix:	n/a	n/a
21	NR2F2	chr12:121974580-121975611	MCF-7	breast:	n/a	n/a
22	RELA	chr12:121973849-121975728	GM19193	blood:	n/a	n/a
23	POLR2A	chr12:121973609-121976415	GM18951	blood:	n/a	n/a
24	MAX	chr12:121974400-121975695	HCT-116	colon:	n/a	chr12:121975043-121975053 chr12:121975245-121975255
25	TAF1	chr12:121974776-121975383	HepG2	liver:	n/a	n/a
26	FOXM1	chr12:121973936-121975631	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:121974622-121975462	HepG2	liver:	n/a	n/a
28	POLR2A	chr12:121974864-121975508	A549	lung:	n/a	n/a
29	NFATC1	chr12:121974248-121974998	GM12878	blood:	n/a	n/a
30	YY1	chr12:121974729-121975175	A549	lung:	n/a	chr12:121975132-121975143
31	POLR2A	chr12:121974590-121976343	NB4	blood:	n/a	n/a
32	E2F6	chr12:121974535-121975856	A549	lung:	n/a	chr12:121975822-121975832 chr12:121975551-121975565 chr12:121975135-121975147 chr12:121975738-121975750 chr12:121975528-121975537
33	MAZ	chr12:121973768-121976444	GM12878	blood:	n/a	chr12:121975043-121975053 chr12:121974080-121974090 chr12:121976078-121976088
34	TBP	chr12:121974706-121975371	Hela-S3	cervix:	n/a	n/a
35	MYC	chr12:121974585-121975386	K562	blood:	n/a	chr12:121975043-121975053 chr12:121975245-121975255
36	MAZ	chr12:121974678-121976111	Hela-S3	cervix:	n/a	chr12:121975043-121975053 chr12:121976078-121976088
37	POLR2A	chr12:121974858-121975404	A549	lung:	n/a	n/a
38	POLR2A	chr12:121973761-121976612	GM12892	blood:	n/a	n/a
39	MAX	chr12:121973713-121977024	ECC-1	luminal epithelium:	n/a	chr12:121975043-121975053 chr12:121975245-121975255 chr12:121974080-121974090 chr12:121976078-121976088 chr12:121973741-121973751
40	NFIC	chr12:121974305-121975827	ECC-1	luminal epithelium:	n/a	n/a
41	HDAC2	chr12:121974670-121975443	HepG2	liver:	n/a	n/a
42	POLR2A	chr12:121973946-121975930	SK-N-MC	brain:	n/a	n/a
43	POLR2A	chr12:121974530-121976003	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr12:121973711-121976427	GM12892	blood:	n/a	n/a
45	POLR2A	chr12:121973296-121976832	GM12878	blood:	n/a	n/a
46	POU2F2	chr12:121973522-121975432	GM12891	blood:	n/a	chr12:121973579-121973591 chr12:121975131-121975143
47	TAF1	chr12:121974667-121975479	HepG2	liver:	n/a	n/a
48	POLR2A	chr12:121974714-121975307	PFSK-1	brain:	n/a	n/a
49	RELA	chr12:121974144-121975706	GM10847	blood:	n/a	n/a
50	POLR2A	chr12:121974854-121976257	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121973453..121977492-chr12:122016919..122020388,4	K562	blood:
2	chr12:121974674..121977649-chr12:122063134..122066400,4	MCF-7	breast:
3	chr12:121974857..121978322-chr12:122063131..122066228,6	MCF-7	breast:
4	chr12:121974542..121976684-chr12:122017365..122019196,2	MCF-7	breast:
5	chr12:121966142..121973158-chr12:121973289..121976781,9	MCF-7	breast:
6	chr12:121973525..121977245-chr12:122063799..122066216,4	K562	blood:
7	chr12:121974472..121977117-chr12:122150068..122152069,2	MCF-7	breast:
8	chr12:121972742..121976523-chr12:121985100..121990052,4	K562	blood:
9	chr12:121973342..121977941-chr12:121987524..121992877,7	MCF-7	breast:
10	chr12:121974810..121976577-chr12:122237441..122239422,3	MCF-7	breast:

Variant related genes	Relation type
KDM2B	TF binding region
ENSG00000089094	Chromatin interaction
ENSG00000182500	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000256742	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560457	chr12:121956483-121976176	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	esv3354947	chr12:121974194-121976742	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121972400-121975000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:121972400-121975200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr12:121973200-121975000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:121973200-121975000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:121973200-121976800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr12:121973400-121975200	Active TSS	Fetal Kidney	kidney
7	chr12:121973400-121975200	Flanking Active TSS	Fetal Muscle Trunk	muscle
8	chr12:121973400-121976800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:121973600-121975000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:121973600-121975000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:121973600-121975000	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr12:121973600-121975000	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr12:121973600-121975000	Flanking Active TSS	Fetal Intestine Large	intestine
14	chr12:121973600-121975000	Flanking Active TSS	Fetal Intestine Small	intestine
15	chr12:121973600-121975000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr12:121973600-121975000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr12:121973600-121975200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr12:121973600-121975200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:121973600-121975200	Flanking Active TSS	Liver	Liver
20	chr12:121973600-121975600	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr12:121973600-121976400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:121973600-121976400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:121973600-121976600	Flanking Active TSS	Colonic Mucosa	Colon
24	chr12:121973600-121976600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr12:121973600-121976800	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr12:121973800-121975000	Flanking Active TSS	NHLF	lung
27	chr12:121973800-121975200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr12:121973800-121975200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr12:121973800-121975200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr12:121973800-121975200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr12:121973800-121975600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:121973800-121975600	Flanking Active TSS	Placenta	Placenta
33	chr12:121973800-121975800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:121973800-121975800	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr12:121973800-121975800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr12:121973800-121976400	Flanking Active TSS	NH-A	brain
37	chr12:121973800-121976600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr12:121973800-121976800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:121974000-121975000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
40	chr12:121974000-121975000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:121974000-121975000	Flanking Active TSS	K562	blood
42	chr12:121974000-121975400	Flanking Active TSS	Osteobl	bone
43	chr12:121974000-121975800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:121974000-121975800	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr12:121974000-121975800	Flanking Active TSS	HUVEC	blood vessel
46	chr12:121974000-121976000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:121974000-121976200	Active TSS	Aorta	Aorta
48	chr12:121974000-121976200	Active TSS	Brain Anterior Caudate	brain
49	chr12:121974000-121976200	Active TSS	Colon Smooth Muscle	Colon
50	chr12:121974000-121976200	Active TSS	Fetal Brain Female	brain

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