Variant report

Variant	rs3217792
Chromosome Location	chr12:4384696-4384697
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	POLR2A	chr12:4378383-4393977	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:4382575-4386671	PFSK-1	brain:	n/a	n/a
3	E2F4	chr12:4384660-4384735	MCF10A-Er-Src	breast:	n/a	n/a
4	CTCF	chr12:4384580-4384730	HCPEpiC	choroid plexus:	n/a	n/a
5	MAZ	chr12:4382485-4385200	IMR90	lung:	n/a	chr12:4385045-4385055 chr12:4383629-4383639 chr12:4383593-4383603
6	SIN3A	chr12:4381508-4385599	H1-hESC	embryonic stem cell:	n/a	chr12:4382103-4382116
7	POLR2A	chr12:4377522-4393821	GM19099	blood:	n/a	n/a
8	CHD1	chr12:4378508-4385725	GM12878	blood:	n/a	chr12:4379156-4379166 chr12:4381510-4381520 chr12:4384238-4384248
9	CEBPB	chr12:4384628-4385099	IMR90	lung:	n/a	chr12:4384973-4384981
10	POLR2A	chr12:4377442-4388337	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:4377597-4393888	GM12891	blood:	n/a	n/a
12	POLR2A	chr12:4384670-4385069	GM12892	blood:	n/a	n/a
13	MAZ	chr12:4383610-4385097	GM12878	blood:	n/a	chr12:4385045-4385055 chr12:4383629-4383639
14	MAZ	chr12:4378360-4385121	K562	blood:	n/a	chr12:4385045-4385055 chr12:4380223-4380232 chr12:4381772-4381783 chr12:4382312-4382322 chr12:4378571-4378580 chr12:4381771-4381786 chr12:4382137-4382147 chr12:4383629-4383639 chr12:4383593-4383603 chr12:4381772-4381783
15	POLR2A	chr12:4384348-4385096	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr12:4379882-4385426	GM18505	blood:	n/a	n/a
17	TAF1	chr12:4384617-4385103	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr12:4382739-4388391	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr12:4384667-4384977	H1-hESC	embryonic stem cell:	n/a	n/a
20	WRNIP1	chr12:4384422-4387650	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:4377863-4386616	GM18526	blood:	n/a	n/a
22	POLR2A	chr12:4384688-4385066	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr12:4378043-4385499	GM18951	blood:	n/a	n/a
24	POLR2A	chr12:4377513-4404672	GM12878	blood:	n/a	n/a
25	ZNF263	chr12:4384388-4385556	HEK293-T-REx	kidney:	n/a	chr12:4385401-4385410
26	CHD1	chr12:4384441-4385036	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr12:4382742-4385079	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr12:4377772-4388270	GM19193	blood:	n/a	n/a
29	POLR2A	chr12:4383668-4385140	H1-hESC	embryonic stem cell:	n/a	n/a
30	MYC	chr12:4384469-4384985	K562	blood:	n/a	n/a
31	ZBTB7A	chr12:4384580-4384735	K562	blood:	n/a	n/a
32	ELF1	chr12:4384435-4385001	GM12878	blood:	n/a	n/a
33	CEBPB	chr12:4384619-4385018	K562	blood:	n/a	chr12:4384973-4384981
34	POLR2A	chr12:4384400-4385090	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr12:4382582-4385026	GM15510	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:4384688-4384738	H1-hESC	embryonic stem cell:	embryo
2	chr12:4384688-4384738	PANC-1	pancreas:	n/a
3	chr12:4384688-4384738	BJ	skin:	n/a
4	chr12:4384688-4384738	AG09319	gingival:	n/a
5	chr12:4384688-4384738	Jurkat	blood:	n/a
6	chr12:4384688-4384738	MCF10A-Er-Src	breast:	n/a
7	chr12:4384688-4384738	PFSK-1	brain:	n/a
8	chr12:4384688-4384738	AoSMC	blood vessel:	n/a
9	chr12:4384688-4384738	HAEpiC	amniotic membrane:	n/a
10	chr12:4384688-4384738	SK-N-MC	brain:	n/a
11	chr12:4384688-4384738	T-47D	breast:	n/a
12	chr12:4384688-4384738	Caco-2	colon:	n/a
13	chr12:4384688-4384738	HCF	heart:	n/a
14	chr12:4384688-4384738	U87	brain:	n/a
15	chr12:4384688-4384738	GM12891	blood:	n/a
16	chr12:4384688-4384738	NB4	blood:	n/a
17	chr12:4384688-4384738	GM19239	blood:	n/a
18	chr12:4384688-4384738	NHBE	bronchial:	n/a
19	chr12:4384688-4384738	ProgFib	skin:	n/a
20	chr12:4384688-4384738	HEEpiC	esophagus:	n/a
21	chr12:4384688-4384738	K562	blood:	n/a
22	chr12:4384688-4384738	RPTEC	kidney:	n/a
23	chr12:4384688-4384738	HRPEpiC	eye:	n/a
24	chr12:4384688-4384738	LNCaP	prostate:	n/a
25	chr12:4384688-4384738	NH-A	brain:	n/a
26	chr12:4384688-4384738	IMR90	lung:	fetal
27	chr12:4384688-4384738	HRCEpiC	kidney:	n/a
28	chr12:4384688-4384738	CMK	blood:	n/a
29	chr12:4384688-4384738	HCT-116	colon:	n/a
30	chr12:4384688-4384738	SAEC	small airway:	n/a
31	chr12:4384688-4384738	HMEC	breast:	n/a
32	chr12:4384688-4384738	GM12892	blood:	n/a
33	chr12:4384688-4384738	PrEC	prostate:	n/a
34	chr12:4384688-4384738	ovcar-3	ovarian:	n/a
35	chr12:4384688-4384738	AG10803	skin:	n/a
36	chr12:4384688-4384738	Hela-S3	cervix:	n/a
37	chr12:4384688-4384738	SK-N-SH_RA	brain:	n/a
38	chr12:4384688-4384738	HUVEC	blood vessel:	n/a
39	chr12:4384688-4384738	AG04450	lung:	fetal
40	chr12:4384688-4384738	SKMC	muscle:	n/a
41	chr12:4384688-4384738	HIPEpiC	eye:	n/a
42	chr12:4384688-4384738	Hepatocyte	liver:	n/a
43	chr12:4384688-4384738	HEK293	kidney:	embryo
44	chr12:4384688-4384738	NHDF-neo	bronchial:	n/a
45	chr12:4384688-4384738	AG09309	skin:	n/a
46	chr12:4384688-4384738	GM06990	blood:	n/a
47	chr12:4384688-4384738	BE2_C	brain:	n/a
48	chr12:4384688-4384738	AG04449	skin:	fetal
49	chr12:4384688-4384738	ECC-1	luminal epithelium:	n/a
50	chr12:4384688-4384738	HepG2	liver:	n/a

Variant related genes	Relation type
CCND2-AS2	TF binding region
CCND2	TF binding region
CCND2	CpG island
CCND2-AS2	CpG island

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3217795	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv832317	chr12:4315298-4435615	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv541360	chr12:4338851-4389238	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv541361	chr12:4362258-4413849	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4377600-4386000	Active TSS	Aorta	Aorta
2	chr12:4377600-4386200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:4377800-4385400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr12:4378200-4385000	Active TSS	Primary T cells from cord blood	blood
5	chr12:4378200-4385400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:4378200-4385600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:4378200-4385800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr12:4379000-4385000	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr12:4379200-4385200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr12:4379600-4385200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr12:4381000-4385600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:4382000-4385000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:4382000-4385200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:4382000-4385400	Active TSS	Left Ventricle	heart
15	chr12:4382000-4388000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:4382200-4385000	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr12:4382200-4386000	Active TSS	Right Atrium	heart
18	chr12:4382400-4385000	Active TSS	Primary T cells fromperipheralblood	blood
19	chr12:4382400-4385000	Active TSS	Ovary	ovary
20	chr12:4382400-4385200	Active TSS	H1 Cell Line	embryonic stem cell
21	chr12:4382400-4385200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:4382400-4385200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
23	chr12:4382400-4385200	Active TSS	Esophagus	oesophagus
24	chr12:4382400-4385200	Active TSS	Small Intestine	intestine
25	chr12:4382400-4385400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:4382400-4385400	Active TSS	Right Ventricle	heart
27	chr12:4382600-4384800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:4382600-4384800	Active TSS	Colonic Mucosa	Colon
29	chr12:4382600-4385000	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr12:4382600-4385000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr12:4382600-4385000	Active TSS	Fetal Lung	lung
32	chr12:4382600-4385000	Active TSS	Placenta Amnion	Placenta Amnion
33	chr12:4382600-4385000	Active TSS	NHEK	skin
34	chr12:4382600-4385200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:4382600-4385200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:4382600-4385200	Active TSS	Fetal Intestine Large	intestine
37	chr12:4382600-4385200	Active TSS	Rectal Smooth Muscle	rectum
38	chr12:4382600-4385200	Active TSS	GM12878-XiMat	blood
39	chr12:4382600-4385400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr12:4382600-4385400	Active TSS	Colon Smooth Muscle	Colon
41	chr12:4382600-4385400	Active TSS	Duodenum Mucosa	Duodenum
42	chr12:4382800-4385000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:4382800-4385000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:4382800-4385000	Bivalent/Poised TSS	Osteobl	bone
45	chr12:4382800-4385200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:4382800-4385200	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr12:4382800-4385200	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr12:4382800-4385200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:4382800-4385200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:4382800-4385200	Active TSS	Fetal Brain Male	brain

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