Variant report

Variant	rs545994190
Chromosome Location	chr12:117318891-117318892
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:181)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:181 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr12:117318721-117319035	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr12:117318860-117319010	GM12865	blood:	n/a	n/a
3	BCLAF1	chr12:117318774-117319117	GM12878	blood:	n/a	n/a
4	CTCF	chr12:117318860-117319010	GM12873	blood:	n/a	n/a
5	CTCF	chr12:117318864-117318985	GM13976	blood:	n/a	n/a
6	CTCF	chr12:117318820-117319038	GM19239	blood:	n/a	n/a
7	CTCF	chr12:117318834-117319045	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr12:117318800-117318950	Hela-S3	cervix:	n/a	n/a
9	NFYA	chr12:117318781-117319066	Hela-S3	cervix:	n/a	n/a
10	MAX	chr12:117318618-117319364	MCF-7	breast:	n/a	chr12:117319314-117319323 chr12:117319291-117319301
11	ZNF143	chr12:117318643-117319019	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr12:117318795-117319086	GM12891	blood:	n/a	n/a
13	MYC	chr12:117318845-117319097	HepG2	liver:	n/a	n/a
14	EP300	chr12:117318846-117318995	GM12878	blood:	n/a	n/a
15	MAX	chr12:117318667-117319491	ECC-1	luminal epithelium:	n/a	chr12:117319314-117319323 chr12:117319291-117319301
16	CTCF	chr12:117318782-117319082	MCF-7	breast:	n/a	n/a
17	POLR2A	chr12:117318389-117319304	Raji	blood:	n/a	n/a
18	CTCF	chr12:117318840-117318990	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:117318770-117319596	H1-neurons	neurons:	n/a	n/a
20	YY1	chr12:117318839-117319000	K562	blood:	n/a	n/a
21	CTCF	chr12:117318880-117319030	GM12875	blood:	n/a	n/a
22	CTCF	chr12:117318689-117319121	T-47D	breast:	n/a	n/a
23	CCNT2	chr12:117318736-117319509	K562	blood:	n/a	chr12:117319333-117319342 chr12:117319297-117319306
24	POLR2A	chr12:117318420-117320691	H1-neurons	neurons:	n/a	n/a
25	MYC	chr12:117318816-117319157	MCF-7	breast:	n/a	n/a
26	CTCF	chr12:117318820-117318970	GM12872	blood:	n/a	n/a
27	GATA3	chr12:117318771-117319023	T-47D	breast:	n/a	n/a
28	MYC	chr12:117318489-117319161	Hela-S3	cervix:	n/a	n/a
29	RAD21	chr12:117318628-117319081	H1-hESC	embryonic stem cell:	n/a	chr12:117318731-117318744
30	CTCF	chr12:117318840-117318990	AG04449	skin:	n/a	n/a
31	HDAC2	chr12:117318739-117319066	K562	blood:	n/a	n/a
32	CTCF	chr12:117318810-117319076	NHEK	skin:	n/a	n/a
33	CTCF	chr12:117318742-117319077	HepG2	liver:	n/a	n/a
34	TBP	chr12:117318453-117319365	H1-hESC	embryonic stem cell:	n/a	n/a
35	YY1	chr12:117318803-117319155	K562	blood:	n/a	n/a
36	CTCF	chr12:117318880-117319030	GM12864	blood:	n/a	n/a
37	POLR2A	chr12:117318603-117319243	H1-hESC	embryonic stem cell:	n/a	n/a
38	SMARCB1	chr12:117318446-117319520	Hela-S3	cervix:	n/a	n/a
39	YY1	chr12:117318775-117319035	HCT-116	colon:	n/a	n/a
40	CTCF	chr12:117318846-117319003	HepG2	liver:	n/a	n/a
41	CTCF	chr12:117318511-117319350	A549	lung:	n/a	chr12:117319323-117319336
42	CTCF	chr12:117318740-117319066	HepG2	liver:	n/a	n/a
43	CTCF	chr12:117318816-117319040	A549	lung:	n/a	n/a
44	UBTF	chr12:117318788-117319214	K562	blood:	n/a	n/a
45	CTCF	chr12:117318726-117319041	GM12878	blood:	n/a	n/a
46	E2F6	chr12:117318716-117319182	K562	blood:	n/a	n/a
47	ZNF143	chr12:117318448-117318934	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr12:117318840-117319069	Gliobla	brain:	n/a	n/a
49	CTCF	chr12:117318743-117319105	H1-hESC	embryonic stem cell:	n/a	n/a
50	MYC	chr12:117318768-117319096	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117317029..117319301-chr12:117346996..117349580,2	MCF-7	breast:

No data

Variant related genes	Relation type
HRK	TF binding region
ENSG00000174989	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117316000-117320200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:117316200-117320000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr12:117316200-117320200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:117316200-117320400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr12:117316200-117320400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:117316400-117319000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:117316400-117319400	Bivalent Enhancer	Lung	lung
8	chr12:117316400-117320200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:117316600-117320000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:117316800-117319600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr12:117316800-117320200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr12:117317000-117319000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr12:117317000-117320000	Bivalent Enhancer	Placenta	Placenta
14	chr12:117317400-117319600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:117317600-117320200	Flanking Bivalent TSS/Enh	Thymus	Thymus
16	chr12:117317600-117320400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
17	chr12:117317800-117320400	Bivalent Enhancer	Liver	Liver
18	chr12:117318000-117319000	Bivalent Enhancer	Adipose Nuclei	Adipose
19	chr12:117318000-117319000	Bivalent/Poised TSS	HSMM	muscle
20	chr12:117318000-117319600	Active TSS	Aorta	Aorta
21	chr12:117318000-117319800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:117318200-117319000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
23	chr12:117318200-117319200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:117318200-117319200	Bivalent/Poised TSS	Left Ventricle	heart
25	chr12:117318200-117319200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
26	chr12:117318200-117319400	Active TSS	Brain Angular Gyrus	brain
27	chr12:117318200-117319600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr12:117318200-117319800	Bivalent Enhancer	HUVEC	blood vessel
29	chr12:117318200-117320000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr12:117318400-117319000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:117318400-117319000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:117318400-117319200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
33	chr12:117318400-117319400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:117318400-117319400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
35	chr12:117318400-117319600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
36	chr12:117318400-117319600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:117318400-117319600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:117318400-117320000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr12:117318400-117320000	Bivalent Enhancer	Spleen	Spleen
40	chr12:117318600-117319000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
41	chr12:117318600-117319000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
42	chr12:117318600-117319000	Active TSS	HSMMtube	muscle
43	chr12:117318600-117319000	Bivalent/Poised TSS	Osteobl	bone
44	chr12:117318600-117319200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
45	chr12:117318600-117319200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:117318600-117319200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:117318600-117319200	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
48	chr12:117318600-117319200	Flanking Bivalent TSS/Enh	HMEC	breast
49	chr12:117318600-117319400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr12:117318600-117319400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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