Variant report

Variant	rs576354897
Chromosome Location	chr12:117316709-117316710
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr12:117316706-117317573	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:117316325-117317095	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr12:117316331-117317010	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:117316311-117316987	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:117316446-117317053	Hela-S3	cervix:	n/a	n/a
6	TBP	chr12:117316392-117316928	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:117316664-117317547	H1-neurons	neurons:	n/a	n/a
8	RFX5	chr12:117316340-117317081	Hela-S3	cervix:	n/a	n/a
9	SMARCB1	chr12:117316356-117318213	Hela-S3	cervix:	n/a	n/a
10	NR2F2	chr12:117316196-117316834	MCF-7	breast:	n/a	n/a
11	MAX	chr12:117316376-117317060	Hela-S3	cervix:	n/a	chr12:117316655-117316665
12	POLR2A	chr12:117316686-117317062	Hela-S3	cervix:	n/a	n/a
13	SUZ12	chr12:117316189-117319614	NT2-D1	testis:	n/a	n/a
14	YY1	chr12:117316370-117316844	HCT-116	colon:	n/a	chr12:117316817-117316831 chr12:117316740-117316754 chr12:117316820-117316834 chr12:117316739-117316748
15	GTF2F1	chr12:117316422-117317155	Hela-S3	cervix:	n/a	n/a
16	HA-E2F1	chr12:117316210-117316815	MCF-7	breast:	n/a	n/a
17	ZNF143	chr12:117316405-117316808	Hela-S3	cervix:	n/a	n/a
18	ZNF263	chr12:117316348-117317103	HEK293-T-REx	kidney:	n/a	chr12:117316779-117316788
19	CHD2	chr12:117316388-117316908	Hela-S3	cervix:	n/a	chr12:117316815-117316825
20	ZKSCAN1	chr12:117316547-117317086	Hela-S3	cervix:	n/a	n/a
21	MXI1	chr12:117316397-117317020	Hela-S3	cervix:	n/a	n/a
22	MAZ	chr12:117316310-117317076	Hela-S3	cervix:	n/a	chr12:117316655-117316665
23	POLR2A	chr12:117316645-117316973	MCF10A-Er-Src	breast:	n/a	n/a
24	RCOR1	chr12:117316288-117317050	Hela-S3	cervix:	n/a	n/a
25	TFAP2A	chr12:117316254-117317069	Hela-S3	cervix:	n/a	chr12:117316448-117316463
26	TFAP2C	chr12:117316201-117317098	Hela-S3	cervix:	n/a	n/a
27	SMC3	chr12:117316329-117316845	Hela-S3	cervix:	n/a	n/a
28	HDAC2	chr12:117316283-117317121	MCF-7	breast:	n/a	chr12:117317061-117317075
29	POLR2A	chr12:117316313-117317030	HCT-116	colon:	n/a	n/a
30	POLR2A	chr12:117316234-117317093	HCT-116	colon:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:117316665-117316715	HEK293	kidney:	embryo
2	chr12:117316665-117316715	HCT-116	colon:	n/a
3	chr12:117316665-117316715	SK-N-SH_RA	brain:	n/a
4	chr12:117316665-117316715	Hela-S3	cervix:	n/a
5	chr12:117316665-117316715	HPAEpiC	pulmonary alveolar:	n/a
6	chr12:117316665-117316715	NT2-D1	testis:	n/a
7	chr12:117316665-117316715	AG09309	skin:	n/a
8	chr12:117316665-117316715	HRCEpiC	kidney:	n/a
9	chr12:117316665-117316715	SKMC	muscle:	n/a
10	chr12:117316665-117316715	NH-A	brain:	n/a
11	chr12:117316665-117316715	HepG2	liver:	n/a
12	chr12:117316665-117316715	GM12892	blood:	n/a
13	chr12:117316665-117316715	HAEpiC	amniotic membrane:	n/a
14	chr12:117316665-117316715	Caco-2	colon:	n/a
15	chr12:117316665-117316715	AG04450	lung:	fetal
16	chr12:117316665-117316715	BE2_C	brain:	n/a
17	chr12:117316665-117316715	LNCaP	prostate:	n/a
18	chr12:117316665-117316715	HRPEpiC	eye:	n/a
19	chr12:117316665-117316715	SK-N-MC	brain:	n/a
20	chr12:117316665-117316715	NHBE	bronchial:	n/a
21	chr12:117316665-117316715	AG10803	skin:	n/a
22	chr12:117316665-117316715	HIPEpiC	eye:	n/a
23	chr12:117316665-117316715	ECC-1	luminal epithelium:	n/a
24	chr12:117316665-117316715	GM12891	blood:	n/a
25	chr12:117316665-117316715	AG04449	skin:	fetal
26	chr12:117316665-117316715	IMR90	lung:	fetal
27	chr12:117316665-117316715	GM06990	blood:	n/a
28	chr12:117316665-117316715	NHDF-neo	bronchial:	n/a
29	chr12:117316665-117316715	HCM	heart:	n/a
30	chr12:117316665-117316715	HCF	heart:	n/a
31	chr12:117316665-117316715	MCF-7	breast:	n/a
32	chr12:117316665-117316715	U87	brain:	n/a
33	chr12:117316665-117316715	HUVEC	blood vessel:	n/a
34	chr12:117316665-117316715	ProgFib	skin:	n/a
35	chr12:117316665-117316715	HL-60	blood:	n/a
36	chr12:117316665-117316715	SAEC	small airway:	n/a
37	chr12:117316665-117316715	A549	lung:	n/a
38	chr12:117316665-117316715	ovcar-3	ovarian:	n/a
39	chr12:117316665-117316715	SK-N-SH	brain:	n/a
40	chr12:117316665-117316715	NB4	blood:	n/a
41	chr12:117316665-117316715	H1-hESC	embryonic stem cell:	embryo
42	chr12:117316665-117316715	RPTEC	kidney:	n/a
43	chr12:117316665-117316715	Jurkat	blood:	n/a
44	chr12:117316665-117316715	PFSK-1	brain:	n/a
45	chr12:117316665-117316715	AoSMC	blood vessel:	n/a
46	chr12:117316665-117316715	T-47D	breast:	n/a
47	chr12:117316665-117316715	HEEpiC	esophagus:	n/a
48	chr12:117316665-117316715	HMEC	breast:	n/a
49	chr12:117316665-117316715	GM19239	blood:	n/a
50	chr12:117316665-117316715	K562	blood:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117174783..117176988-chr12:117316113..117318785,2	MCF-7	breast:
2	chr12:117314859..117317028-chr12:117347500..117350151,4	MCF-7	breast:

No data

Variant related genes	Relation type
HRK	TF binding region
HRK	CpG island
ENSG00000135119	Chromatin interaction
ENSG00000174989	Chromatin interaction
ENSG00000111412	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv826522	chr12:117316379-117317264	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117316000-117316800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:117316000-117317400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
3	chr12:117316000-117317800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:117316000-117320200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr12:117316200-117316800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
6	chr12:117316200-117316800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr12:117316200-117316800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
8	chr12:117316200-117316800	Bivalent Enhancer	Stomach Mucosa	stomach
9	chr12:117316200-117316800	Flanking Bivalent TSS/Enh	Thymus	Thymus
10	chr12:117316200-117317000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
11	chr12:117316200-117317000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
12	chr12:117316200-117317000	Flanking Active TSS	Right Ventricle	heart
13	chr12:117316200-117317000	Bivalent Enhancer	Spleen	Spleen
14	chr12:117316200-117317400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:117316200-117317400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
16	chr12:117316200-117317400	Flanking Bivalent TSS/Enh	NHEK	skin
17	chr12:117316200-117317600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr12:117316200-117317800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr12:117316200-117318000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:117316200-117318400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:117316200-117318600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
22	chr12:117316200-117318800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr12:117316200-117320000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr12:117316200-117320200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr12:117316200-117320400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr12:117316200-117320400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:117316400-117316800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:117316400-117316800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:117316400-117316800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
30	chr12:117316400-117316800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:117316400-117316800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
32	chr12:117316400-117316800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
33	chr12:117316400-117316800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
34	chr12:117316400-117316800	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr12:117316400-117316800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
36	chr12:117316400-117316800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
37	chr12:117316400-117316800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
38	chr12:117316400-117317000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:117316400-117317000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr12:117316400-117317000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr12:117316400-117317000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:117316400-117317000	Bivalent Enhancer	Fetal Heart	heart
43	chr12:117316400-117317000	Flanking Bivalent TSS/Enh	Placenta	Placenta
44	chr12:117316400-117317000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
45	chr12:117316400-117317000	Active TSS	Hela-S3	cervix
46	chr12:117316400-117317000	Bivalent/Poised TSS	HepG2	liver
47	chr12:117316400-117317200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:117316400-117317200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:117316400-117317200	Bivalent Enhancer	Fetal Lung	lung
50	chr12:117316400-117317400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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