Variant report

Variant	rs184891680
Chromosome Location	chr12:30907216-30907217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr12:30906937-30907380	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:30906969-30908372	Hela-S3	cervix:	n/a	n/a
3	JUND	chr12:30907209-30907220	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB7A	chr12:30907104-30908415	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr12:30906990-30908446	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr12:30907157-30908351	K562	blood:	n/a	n/a
7	POLR2A	chr12:30907120-30907344	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr12:30907100-30907250	A549	lung:	n/a	chr12:30907136-30907144
9	POLR2A	chr12:30906381-30908438	HepG2	liver:	n/a	n/a
10	MXI1	chr12:30906275-30908913	IMR90	lung:	n/a	n/a
11	SMC3	chr12:30906877-30908508	Hela-S3	cervix:	n/a	n/a
12	CHD1	chr12:30906854-30907356	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr12:30906907-30908428	Hela-S3	cervix:	n/a	chr12:30907833-30907843 chr12:30907901-30907910
14	CTCF	chr12:30907200-30907350	AG04450	lung:	n/a	n/a
15	CREB1	chr12:30907133-30908325	A549	lung:	n/a	n/a
16	HA-E2F1	chr12:30906943-30908487	MCF-7	breast:	n/a	chr12:30907595-30907605 chr12:30908309-30908316
17	POLR2A	chr12:30907061-30908816	Hela-S3	cervix:	n/a	n/a
18	MYC	chr12:30906840-30908362	NB4	blood:	n/a	chr12:30906877-30906886 chr12:30907833-30907843 chr12:30907901-30907910
19	POLR2A	chr12:30907206-30908372	HCT-116	colon:	n/a	n/a
20	TBP	chr12:30907135-30907335	Hela-S3	cervix:	n/a	n/a
21	MAX	chr12:30907040-30908493	K562	blood:	n/a	chr12:30907833-30907843 chr12:30907901-30907910
22	MAX	chr12:30907047-30908684	A549	lung:	n/a	chr12:30907833-30907843 chr12:30907901-30907910
23	POLR2A	chr12:30906872-30908356	Hela-S3	cervix:	n/a	n/a
24	MAZ	chr12:30907089-30908577	K562	blood:	n/a	chr12:30907833-30907843 chr12:30907901-30907910
25	MXI1	chr12:30906901-30907229	Hela-S3	cervix:	n/a	n/a
26	HCFC1	chr12:30906958-30908751	Hela-S3	cervix:	n/a	n/a
27	USF2	chr12:30906746-30907360	GM12878	blood:	n/a	chr12:30906875-30906886
28	CTBP2	chr12:30907200-30908370	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr12:30907200-30907350	BJ	skin:	n/a	n/a
30	EP300	chr12:30907124-30907304	GM12878	blood:	n/a	n/a
31	POLR2A	chr12:30907186-30908364	A549	lung:	n/a	n/a
32	POLR2A	chr12:30906911-30908456	GM12878	blood:	n/a	n/a
33	CTCF	chr12:30905966-30908651	A549	lung:	n/a	chr12:30907136-30907144
34	CTCF	chr12:30906008-30907595	SK-N-SH	brain:	n/a	chr12:30907136-30907144
35	POLR2A	chr12:30907026-30908416	GM19193	blood:	n/a	n/a
36	ZNF263	chr12:30906386-30908514	HEK293-T-REx	kidney:	n/a	chr12:30906801-30906810
37	POLR2A	chr12:30906044-30908891	IMR90	lung:	n/a	n/a
38	USF2	chr12:30906706-30907274	Hela-S3	cervix:	n/a	chr12:30906875-30906886
39	RCOR1	chr12:30907033-30908502	K562	blood:	n/a	n/a
40	POLR2A	chr12:30906188-30907549	SK-N-MC	brain:	n/a	n/a
41	MAZ	chr12:30907157-30908299	Hela-S3	cervix:	n/a	chr12:30907833-30907843 chr12:30907901-30907910
42	NFIC	chr12:30907098-30908353	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr12:30907175-30908484	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr12:30907096-30907391	HCT-116	colon:	n/a	n/a
45	CTCF	chr12:30907120-30907270	NHDF-neo	bronchial:	n/a	chr12:30907136-30907144
46	TAF1	chr12:30907101-30908431	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr12:30907101-30908441	Hela-S3	cervix:	n/a	n/a
48	GATA2	chr12:30906923-30908537	SH-SY5Y	brain:	n/a	n/a
49	MAX	chr12:30907070-30908560	ECC-1	luminal epithelium:	n/a	chr12:30907833-30907843 chr12:30907901-30907910
50	MXI1	chr12:30906937-30908421	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:30907191-30907241	Jurkat	blood:	n/a
2	chr12:30907191-30907241	HCF	heart:	n/a
3	chr12:30907191-30907241	SKMC	muscle:	n/a
4	chr12:30907191-30907241	HNPCEpiC	eye:	n/a
5	chr12:30907191-30907241	RPTEC	kidney:	n/a
6	chr12:30907191-30907241	HAEpiC	amniotic membrane:	n/a
7	chr12:30907191-30907241	CMK	blood:	n/a
8	chr12:30907191-30907241	GM12878	blood:	n/a
9	chr12:30907191-30907241	SK-N-SH	brain:	n/a
10	chr12:30907191-30907241	NT2-D1	testis:	n/a
11	chr12:30907191-30907241	BE2_C	brain:	n/a
12	chr12:30907191-30907241	AG10803	skin:	n/a
13	chr12:30907191-30907241	HUVEC	blood vessel:	n/a
14	chr12:30907191-30907241	GM06990	blood:	n/a
15	chr12:30907191-30907241	HMEC	breast:	n/a
16	chr12:30907191-30907241	HRPEpiC	eye:	n/a
17	chr12:30907191-30907241	T-47D	breast:	n/a
18	chr12:30907191-30907241	HRCEpiC	kidney:	n/a
19	chr12:30907191-30907241	GM12891	blood:	n/a
20	chr12:30907191-30907241	BJ	skin:	n/a
21	chr12:30907191-30907241	NH-A	brain:	n/a
22	chr12:30907191-30907241	HPAEpiC	pulmonary alveolar:	n/a
23	chr12:30907191-30907241	ProgFib	skin:	n/a
24	chr12:30907191-30907241	HEK293	kidney:	embryo
25	chr12:30907191-30907241	HRE	kidney:	n/a
26	chr12:30907191-30907241	AG09309	skin:	n/a
27	chr12:30907191-30907241	AG04449	skin:	fetal
28	chr12:30907191-30907241	HL-60	blood:	n/a
29	chr12:30907191-30907241	PANC-1	pancreas:	n/a
30	chr12:30907191-30907241	NB4	blood:	n/a
31	chr12:30907191-30907241	AoSMC	blood vessel:	n/a
32	chr12:30907191-30907241	Hela-S3	cervix:	n/a
33	chr12:30907191-30907241	ovcar-3	ovarian:	n/a
34	chr12:30907191-30907241	GM12892	blood:	n/a
35	chr12:30907191-30907241	GM19239	blood:	n/a
36	chr12:30907191-30907241	HCPEpiC	choroid plexus:	n/a
37	chr12:30907191-30907241	SK-N-MC	brain:	n/a
38	chr12:30907191-30907241	HIPEpiC	eye:	n/a
39	chr12:30907191-30907241	A549	lung:	n/a
40	chr12:30907191-30907241	H1-hESC	embryonic stem cell:	embryo
41	chr12:30907191-30907241	AG09319	gingival:	n/a
42	chr12:30907191-30907241	AG04450	lung:	fetal
43	chr12:30907191-30907241	SK-N-SH_RA	brain:	n/a
44	chr12:30907191-30907241	HepG2	liver:	n/a
45	chr12:30907191-30907241	ECC-1	luminal epithelium:	n/a
46	chr12:30907191-30907241	PrEC	prostate:	n/a
47	chr12:30907191-30907241	MCF10A-Er-Src	breast:	n/a
48	chr12:30907191-30907241	U87	brain:	n/a
49	chr12:30907191-30907241	PFSK-1	brain:	n/a
50	chr12:30907191-30907241	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30906304..30909589-chr12:30948532..30951386,3	K562	blood:
2	chr12:30902650..30905580-chr12:30906095..30908998,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000246331	TF binding region
CAPRIN2	TF binding region
CAPRIN2	CpG island
ENSG00000246331	CpG island
ENSG00000235884	Chromatin interaction
ENSG00000110888	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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv3390684	chr12:30906885-30909083	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30903800-30908400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:30905600-30908600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:30905800-30908800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:30906000-30907400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:30906000-30908600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr12:30906200-30907400	Flanking Active TSS	Dnd41	blood
7	chr12:30906200-30908600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:30906200-30908600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr12:30906200-30908800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr12:30906400-30907400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:30906400-30907400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr12:30906400-30907400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:30906400-30908600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:30906600-30907400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr12:30906600-30907400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr12:30906600-30907400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:30906600-30907400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr12:30906600-30907400	Active TSS	Right Atrium	heart
19	chr12:30906600-30907400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr12:30906600-30907400	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr12:30906600-30907600	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr12:30906600-30908200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:30906600-30908400	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr12:30906600-30908600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:30906600-30908600	Active TSS	Fetal Muscle Trunk	muscle
26	chr12:30906800-30907400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
27	chr12:30906800-30907400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr12:30906800-30907400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr12:30906800-30907400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:30906800-30907400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr12:30906800-30907400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr12:30906800-30907400	Flanking Active TSS	Liver	Liver
33	chr12:30906800-30907400	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr12:30906800-30907400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr12:30906800-30907400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr12:30906800-30907400	Bivalent/Poised TSS	HepG2	liver
37	chr12:30906800-30907400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr12:30906800-30907600	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr12:30906800-30908000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:30906800-30908400	Active TSS	NHDF-Ad	bronchial
41	chr12:30906800-30908600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:30906800-30908600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:30906800-30908600	Active TSS	Aorta	Aorta
44	chr12:30906800-30908600	Active TSS	Fetal Brain Female	brain
45	chr12:30906800-30908600	Active TSS	Right Ventricle	heart
46	chr12:30906800-30908600	Active TSS	HSMM	muscle
47	chr12:30906800-30908800	Active TSS	H1 Cell Line	embryonic stem cell
48	chr12:30906800-30908800	Active TSS	H9 Cell Line	embryonic stem cell
49	chr12:30906800-30908800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:30906800-30909000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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