Variant report

Variant	rs534570224
Chromosome Location	chr12:30907409-30907410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:123)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:123 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:30907301-30908343	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr12:30907340-30907490	AG04449	skin:	n/a	n/a
3	POLR2A	chr12:30906969-30908372	Hela-S3	cervix:	n/a	n/a
4	ZBTB7A	chr12:30907104-30908415	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr12:30907278-30908386	A549	lung:	n/a	n/a
6	POLR2A	chr12:30906990-30908446	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:30907275-30908403	MCF-7	breast:	n/a	n/a
8	POLR2A	chr12:30907270-30908334	A549	lung:	n/a	n/a
9	POLR2A	chr12:30907157-30908351	K562	blood:	n/a	n/a
10	POLR2A	chr12:30906381-30908438	HepG2	liver:	n/a	n/a
11	MXI1	chr12:30906275-30908913	IMR90	lung:	n/a	n/a
12	SMC3	chr12:30906877-30908508	Hela-S3	cervix:	n/a	n/a
13	MAX	chr12:30906907-30908428	Hela-S3	cervix:	n/a	chr12:30907833-30907843 chr12:30907901-30907910
14	CREB1	chr12:30907133-30908325	A549	lung:	n/a	n/a
15	HA-E2F1	chr12:30906943-30908487	MCF-7	breast:	n/a	chr12:30907595-30907605 chr12:30908309-30908316
16	POLR2A	chr12:30907061-30908816	Hela-S3	cervix:	n/a	n/a
17	MYC	chr12:30906840-30908362	NB4	blood:	n/a	chr12:30906877-30906886 chr12:30907833-30907843 chr12:30907901-30907910
18	POLR2A	chr12:30907206-30908372	HCT-116	colon:	n/a	n/a
19	MAX	chr12:30907040-30908493	K562	blood:	n/a	chr12:30907833-30907843 chr12:30907901-30907910
20	MAX	chr12:30907047-30908684	A549	lung:	n/a	chr12:30907833-30907843 chr12:30907901-30907910
21	POLR2A	chr12:30906872-30908356	Hela-S3	cervix:	n/a	n/a
22	MAZ	chr12:30907089-30908577	K562	blood:	n/a	chr12:30907833-30907843 chr12:30907901-30907910
23	HCFC1	chr12:30906958-30908751	Hela-S3	cervix:	n/a	n/a
24	CTBP2	chr12:30907200-30908370	H1-hESC	embryonic stem cell:	n/a	n/a
25	TAF1	chr12:30907339-30908352	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:30907229-30908542	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr12:30907186-30908364	A549	lung:	n/a	n/a
28	POLR2A	chr12:30906911-30908456	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:30907382-30907438	GM12878	blood:	n/a	n/a
30	CTCF	chr12:30905966-30908651	A549	lung:	n/a	chr12:30907136-30907144
31	POLR2A	chr12:30907300-30908331	MCF-7	breast:	n/a	n/a
32	CTCF	chr12:30906008-30907595	SK-N-SH	brain:	n/a	chr12:30907136-30907144
33	POLR2A	chr12:30907026-30908416	GM19193	blood:	n/a	n/a
34	CTCF	chr12:30907320-30907470	GM12871	blood:	n/a	n/a
35	HMGN3	chr12:30907259-30908317	K562	blood:	n/a	chr12:30908253-30908260
36	CTCF	chr12:30907280-30907430	GM12873	blood:	n/a	n/a
37	ZC3H11A	chr12:30907250-30907444	K562	blood:	n/a	n/a
38	POLR2A	chr12:30907267-30908395	GM15510	blood:	n/a	n/a
39	ZNF263	chr12:30906386-30908514	HEK293-T-REx	kidney:	n/a	chr12:30906801-30906810
40	POLR2A	chr12:30906044-30908891	IMR90	lung:	n/a	n/a
41	MAX	chr12:30907278-30908417	GM12878	blood:	n/a	chr12:30907833-30907843 chr12:30907901-30907910
42	RCOR1	chr12:30907033-30908502	K562	blood:	n/a	n/a
43	POLR2A	chr12:30906188-30907549	SK-N-MC	brain:	n/a	n/a
44	MAZ	chr12:30907157-30908299	Hela-S3	cervix:	n/a	chr12:30907833-30907843 chr12:30907901-30907910
45	MAX	chr12:30907402-30908393	K562	blood:	n/a	chr12:30907833-30907843 chr12:30907901-30907910
46	POLR2A	chr12:30907236-30908441	GM18951	blood:	n/a	n/a
47	POLR2A	chr12:30907246-30908876	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr12:30907403-30908348	ProgFib	skin:	n/a	n/a
49	NFIC	chr12:30907098-30908353	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr12:30907175-30908484	H1-neurons	neurons:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:30907366-30907416	MCF10A-Er-Src	breast:	n/a
2	chr12:30907366-30907416	SK-N-SH	brain:	n/a
3	chr12:30907366-30907416	BE2_C	brain:	n/a
4	chr12:30907366-30907416	NHDF-neo	bronchial:	n/a
5	chr12:30907366-30907416	GM12892	blood:	n/a
6	chr12:30907366-30907416	MCF-7	breast:	n/a
7	chr12:30907366-30907416	SK-N-SH_RA	brain:	n/a
8	chr12:30907366-30907416	K562	blood:	n/a
9	chr12:30907366-30907416	ProgFib	skin:	n/a
10	chr12:30907366-30907416	HMEC	breast:	n/a
11	chr12:30907366-30907416	AG09319	gingival:	n/a
12	chr12:30907366-30907416	BJ	skin:	n/a
13	chr12:30907366-30907416	PANC-1	pancreas:	n/a
14	chr12:30907366-30907416	AG04450	lung:	fetal
15	chr12:30907366-30907416	HL-60	blood:	n/a
16	chr12:30907366-30907416	H1-hESC	embryonic stem cell:	embryo
17	chr12:30907366-30907416	Caco-2	colon:	n/a
18	chr12:30907366-30907416	HUVEC	blood vessel:	n/a
19	chr12:30907366-30907416	HCM	heart:	n/a
20	chr12:30907366-30907416	NT2-D1	testis:	n/a
21	chr12:30907366-30907416	AG04449	skin:	fetal
22	chr12:30907366-30907416	HEK293	kidney:	embryo
23	chr12:30907366-30907416	HNPCEpiC	eye:	n/a
24	chr12:30907366-30907416	RPTEC	kidney:	n/a
25	chr12:30907366-30907416	GM12891	blood:	n/a
26	chr12:30907366-30907416	U87	brain:	n/a
27	chr12:30907366-30907416	GM12878	blood:	n/a
28	chr12:30907366-30907416	HCF	heart:	n/a
29	chr12:30907366-30907416	HRE	kidney:	n/a
30	chr12:30907366-30907416	PrEC	prostate:	n/a
31	chr12:30907366-30907416	HCPEpiC	choroid plexus:	n/a
32	chr12:30907366-30907416	Jurkat	blood:	n/a
33	chr12:30907366-30907416	SK-N-MC	brain:	n/a
34	chr12:30907366-30907416	NHBE	bronchial:	n/a
35	chr12:30907366-30907416	A549	lung:	n/a
36	chr12:30907366-30907416	HRPEpiC	eye:	n/a
37	chr12:30907366-30907416	T-47D	breast:	n/a
38	chr12:30907366-30907416	CMK	blood:	n/a
39	chr12:30907366-30907416	SKMC	muscle:	n/a
40	chr12:30907366-30907416	HEEpiC	esophagus:	n/a
41	chr12:30907366-30907416	HPAEpiC	pulmonary alveolar:	n/a
42	chr12:30907366-30907416	HCT-116	colon:	n/a
43	chr12:30907366-30907416	NH-A	brain:	n/a
44	chr12:30907366-30907416	GM19239	blood:	n/a
45	chr12:30907366-30907416	HAEpiC	amniotic membrane:	n/a
46	chr12:30907366-30907416	ECC-1	luminal epithelium:	n/a
47	chr12:30907366-30907416	Hepatocyte	liver:	n/a
48	chr12:30907366-30907416	PFSK-1	brain:	n/a
49	chr12:30907366-30907416	SAEC	small airway:	n/a
50	chr12:30907366-30907416	Hela-S3	cervix:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45187119..45187880-chr12:30907389..30908146,2	HCT-116	colon:
2	chr12:30906304..30909589-chr12:30948532..30951386,3	K562	blood:
3	chr12:30902650..30905580-chr12:30906095..30908998,3	MCF-7	breast:

No data

Variant related genes	Relation type
CAPRIN2	TF binding region
ENSG00000246331	TF binding region
ENSG00000246331	CpG island
CAPRIN2	CpG island
ENSG00000235884	Chromatin interaction
ENSG00000110888	Chromatin interaction
ENSG00000199377	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	chr12:30906000-30908600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr12:30906200-30908600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:30906200-30908600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr12:30906200-30908800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:30906400-30908600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:30906600-30907600	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr12:30906600-30908200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:30906600-30908400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr12:30906600-30908600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:30906600-30908600	Active TSS	Fetal Muscle Trunk	muscle
14	chr12:30906800-30907600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr12:30906800-30908000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:30906800-30908400	Active TSS	NHDF-Ad	bronchial
17	chr12:30906800-30908600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:30906800-30908600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:30906800-30908600	Active TSS	Aorta	Aorta
20	chr12:30906800-30908600	Active TSS	Fetal Brain Female	brain
21	chr12:30906800-30908600	Active TSS	Right Ventricle	heart
22	chr12:30906800-30908600	Active TSS	HSMM	muscle
23	chr12:30906800-30908800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr12:30906800-30908800	Active TSS	H9 Cell Line	embryonic stem cell
25	chr12:30906800-30908800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:30906800-30909000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:30907000-30908200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:30907000-30908200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:30907000-30908200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:30907000-30908200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr12:30907000-30908200	Active TSS	Brain Cingulate Gyrus	brain
32	chr12:30907000-30908200	Active TSS	Brain Substantia Nigra	brain
33	chr12:30907000-30908200	Active TSS	Fetal Kidney	kidney
34	chr12:30907000-30908200	Active TSS	Rectal Smooth Muscle	rectum
35	chr12:30907000-30908200	Active TSS	GM12878-XiMat	blood
36	chr12:30907000-30908200	Active TSS	NH-A	brain
37	chr12:30907000-30908400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:30907000-30908400	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr12:30907000-30908400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:30907000-30908400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:30907000-30908400	Active TSS	Brain Hippocampus Middle	brain
42	chr12:30907000-30908400	Active TSS	Gastric	stomach
43	chr12:30907000-30908400	Active TSS	Ovary	ovary
44	chr12:30907000-30908400	Active TSS	A549	lung
45	chr12:30907000-30908600	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr12:30907000-30908600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:30907000-30908600	Active TSS	Brain Angular Gyrus	brain
48	chr12:30907000-30908600	Active TSS	Colonic Mucosa	Colon
49	chr12:30907000-30908600	Active TSS	Esophagus	oesophagus
50	chr12:30907000-30908600	Active TSS	Pancreatic Islets	Pancreatic Islet

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