Variant report

Variant	rs144974154
Chromosome Location	chr12:117318453-117318454
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:117318389-117319304	Raji	blood:	n/a	n/a
2	POLR2A	chr12:117318420-117320691	H1-neurons	neurons:	n/a	n/a
3	TBP	chr12:117318453-117319365	H1-hESC	embryonic stem cell:	n/a	n/a
4	SMARCB1	chr12:117318446-117319520	Hela-S3	cervix:	n/a	n/a
5	ZNF143	chr12:117318448-117318934	H1-hESC	embryonic stem cell:	n/a	n/a
6	SUZ12	chr12:117316189-117319614	NT2-D1	testis:	n/a	n/a
7	ZNF263	chr12:117317673-117319155	HEK293-T-REx	kidney:	n/a	chr12:117318231-117318240
8	SUZ12	chr12:117317764-117318827	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr12:117318370-117320271	H1-hESC	embryonic stem cell:	n/a	chr12:117319818-117319827 chr12:117319782-117319791

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:117318416-117318466	IMR90	lung:	fetal
2	chr12:117318416-117318466	NB4	blood:	n/a
3	chr12:117318416-117318466	PrEC	prostate:	n/a
4	chr12:117318416-117318466	MCF10A-Er-Src	breast:	n/a
5	chr12:117318416-117318466	HCM	heart:	n/a
6	chr12:117318416-117318466	HPAEpiC	pulmonary alveolar:	n/a
7	chr12:117318416-117318466	Hela-S3	cervix:	n/a
8	chr12:117318416-117318466	AG10803	skin:	n/a
9	chr12:117318416-117318466	SK-N-SH	brain:	n/a
10	chr12:117318416-117318466	ECC-1	luminal epithelium:	n/a
11	chr12:117318416-117318466	MCF-7	breast:	n/a
12	chr12:117318416-117318466	HEEpiC	esophagus:	n/a
13	chr12:117318416-117318466	NT2-D1	testis:	n/a
14	chr12:117318416-117318466	HUVEC	blood vessel:	n/a
15	chr12:117318416-117318466	Hepatocyte	liver:	n/a
16	chr12:117318416-117318466	HAEpiC	amniotic membrane:	n/a
17	chr12:117318416-117318466	AoSMC	blood vessel:	n/a
18	chr12:117318416-117318466	HCT-116	colon:	n/a
19	chr12:117318416-117318466	T-47D	breast:	n/a
20	chr12:117318416-117318466	ProgFib	skin:	n/a
21	chr12:117318416-117318466	GM12878	blood:	n/a
22	chr12:117318416-117318466	HNPCEpiC	eye:	n/a
23	chr12:117318416-117318466	GM19239	blood:	n/a
24	chr12:117318416-117318466	HIPEpiC	eye:	n/a
25	chr12:117318416-117318466	HMEC	breast:	n/a
26	chr12:117318416-117318466	A549	lung:	n/a
27	chr12:117318416-117318466	HCF	heart:	n/a
28	chr12:117318416-117318466	PANC-1	pancreas:	n/a
29	chr12:117318416-117318466	SK-N-MC	brain:	n/a
30	chr12:117318416-117318466	HRPEpiC	eye:	n/a
31	chr12:117318416-117318466	PFSK-1	brain:	n/a
32	chr12:117318416-117318466	BJ	skin:	n/a
33	chr12:117318416-117318466	HRE	kidney:	n/a
34	chr12:117318416-117318466	K562	blood:	n/a
35	chr12:117318416-117318466	CMK	blood:	n/a
36	chr12:117318416-117318466	AG04450	lung:	fetal
37	chr12:117318416-117318466	LNCaP	prostate:	n/a
38	chr12:117318416-117318466	HRCEpiC	kidney:	n/a
39	chr12:117318416-117318466	HCPEpiC	choroid plexus:	n/a
40	chr12:117318416-117318466	NH-A	brain:	n/a
41	chr12:117318416-117318466	HL-60	blood:	n/a
42	chr12:117318416-117318466	U87	brain:	n/a
43	chr12:117318416-117318466	SK-N-SH_RA	brain:	n/a
44	chr12:117318416-117318466	ovcar-3	ovarian:	n/a
45	chr12:117318416-117318466	H1-hESC	embryonic stem cell:	embryo
46	chr12:117318416-117318466	GM06990	blood:	n/a
47	chr12:117318416-117318466	Jurkat	blood:	n/a
48	chr12:117318416-117318466	BE2_C	brain:	n/a
49	chr12:117318416-117318466	Caco-2	colon:	n/a
50	chr12:117318416-117318466	GM12891	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	chr12:117317029..117319301-chr12:117346996..117349580,2	MCF-7	breast:

No data

Variant related genes	Relation type
HRK	TF binding region
HRK	CpG island
ENSG00000174989	Chromatin interaction
ENSG00000135119	Chromatin interaction
ENSG00000111412	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	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	esv3338350	chr12:117316869-117321167	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3341718	chr12:117318119-117320417	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3357378	chr12:117318194-117320742	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117316000-117320200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:117316200-117318600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
3	chr12:117316200-117318800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr12:117316200-117320000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:117316200-117320200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:117316200-117320400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr12:117316200-117320400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:117316400-117318600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:117316400-117318600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:117316400-117318600	Bivalent Enhancer	Fetal Brain Male	brain
11	chr12:117316400-117318800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:117316400-117318800	Enhancers	Gastric	stomach
13	chr12:117316400-117319000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:117316400-117319400	Bivalent Enhancer	Lung	lung
15	chr12:117316400-117320200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:117316600-117318600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:117316600-117318600	Bivalent/Poised TSS	HSMMtube	muscle
18	chr12:117316600-117318800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
19	chr12:117316600-117320000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:117316800-117318800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:117316800-117318800	Bivalent/Poised TSS	NHDF-Ad	bronchial
22	chr12:117316800-117319600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
23	chr12:117316800-117320200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr12:117317000-117318600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
25	chr12:117317000-117318600	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr12:117317000-117318600	Flanking Active TSS	Hela-S3	cervix
27	chr12:117317000-117318800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:117317000-117319000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr12:117317000-117320000	Bivalent Enhancer	Placenta	Placenta
30	chr12:117317200-117318600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
31	chr12:117317200-117318600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
32	chr12:117317200-117318800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
33	chr12:117317400-117319600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:117317600-117318600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:117317600-117318600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:117317600-117318600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
37	chr12:117317600-117318600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:117317600-117318600	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
39	chr12:117317600-117318600	Flanking Bivalent TSS/Enh	A549	lung
40	chr12:117317600-117318800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
41	chr12:117317600-117318800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
42	chr12:117317600-117318800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr12:117317600-117318800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
44	chr12:117317600-117318800	Flanking Active TSS	Right Ventricle	heart
45	chr12:117317600-117318800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
46	chr12:117317600-117320200	Flanking Bivalent TSS/Enh	Thymus	Thymus
47	chr12:117317600-117320400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
48	chr12:117317800-117318600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
49	chr12:117317800-117318600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
50	chr12:117317800-117318600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood

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