Variant report

Variant	rs548907427
Chromosome Location	chr12:56479244-56479245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:56478978-56479263	GM19238	blood:	n/a	n/a
2	CTCF	chr12:56478953-56479317	K562	blood:	n/a	n/a
3	CTCF	chr12:56478982-56479265	K562	blood:	n/a	n/a
4	RAD21	chr12:56478886-56479333	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr12:56478714-56479451	A549	lung:	n/a	n/a
6	RAD21	chr12:56478892-56479275	ECC-1	luminal epithelium:	n/a	n/a
7	JUND	chr12:56479012-56479295	K562	blood:	n/a	n/a
8	RAD21	chr12:56478941-56479301	A549	lung:	n/a	n/a
9	CTCF	chr12:56479100-56479250	AG04450	lung:	n/a	n/a
10	MAZ	chr12:56479039-56479286	K562	blood:	n/a	n/a
11	CTCF	chr12:56479018-56479244	Medullo	brain:	n/a	n/a
12	CTCF	chr12:56479004-56479256	GM12878	blood:	n/a	n/a
13	CTCF	chr12:56479100-56479250	GM12864	blood:	n/a	n/a
14	CTCF	chr12:56478925-56479320	K562	blood:	n/a	n/a
15	CTCF	chr12:56479005-56479250	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr12:56479100-56479250	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr12:56478918-56479323	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZNF143	chr12:56478982-56479270	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr12:56478956-56479295	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:56478859-56479537	HepG2	liver:	n/a	n/a
21	CTCF	chr12:56478910-56479273	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr12:56478981-56479279	K562	blood:	n/a	n/a
23	CTCF	chr12:56479100-56479250	WI-38	lung:	n/a	n/a
24	RAD21	chr12:56479014-56479253	HepG2	liver:	n/a	n/a
25	RAD21	chr12:56478982-56479280	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr12:56479140-56479290	GM12868	blood:	n/a	n/a
27	CTCF	chr12:56479120-56479270	NHLF	lung:	n/a	n/a
28	ZNF143	chr12:56478999-56479271	K562	blood:	n/a	n/a
29	RAD21	chr12:56478912-56479268	A549	lung:	n/a	n/a
30	CTCF	chr12:56478863-56479310	SK-N-SH	brain:	n/a	n/a
31	CTCF	chr12:56479100-56479250	HMEC	breast:	n/a	n/a
32	EP300	chr12:56479030-56479300	K562	blood:	n/a	n/a
33	CTCF	chr12:56479100-56479250	HRE	kidney:	n/a	n/a
34	CBX3	chr12:56478961-56479287	K562	blood:	n/a	n/a
35	CTCF	chr12:56479140-56479290	HAc	cerebellar:	n/a	n/a
36	CTCF	chr12:56478992-56479246	GM12892	blood:	n/a	n/a
37	CTCF	chr12:56478908-56479253	GM12891	blood:	n/a	n/a
38	POLR2A	chr12:56479026-56480417	K562	blood:	n/a	n/a
39	CTCF	chr12:56479011-56479257	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr12:56479100-56479250	HAc	cerebellar:	n/a	n/a
41	CTCF	chr12:56478949-56479340	K562	blood:	n/a	n/a
42	CTCF	chr12:56479100-56479250	NHEK	skin:	n/a	n/a
43	RAD21	chr12:56478932-56479327	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr12:56478862-56479362	A549	lung:	n/a	n/a
45	CTCF	chr12:56478950-56479252	K562	blood:	n/a	n/a
46	CTCF	chr12:56479100-56479250	A549	lung:	n/a	n/a
47	CTCF	chr12:56479010-56479249	GM19240	blood:	n/a	n/a
48	RAD21	chr12:56478864-56479438	HCT-116	colon:	n/a	n/a
49	CTCF	chr12:56479140-56479290	HA-sp	spinal cord:	n/a	n/a
50	RAD21	chr12:56478947-56479286	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:56479243-56479293	K562	blood:	n/a
2	chr12:56479243-56479293	GM12878	blood:	n/a
3	chr12:56479243-56479293	HAEpiC	amniotic membrane:	n/a
4	chr12:56479243-56479293	HCPEpiC	choroid plexus:	n/a
5	chr12:56479243-56479293	MCF10A-Er-Src	breast:	n/a
6	chr12:56479243-56479293	NHBE	bronchial:	n/a
7	chr12:56479243-56479293	Caco-2	colon:	n/a
8	chr12:56479243-56479293	SK-N-SH_RA	brain:	n/a
9	chr12:56479243-56479293	AG09309	skin:	n/a
10	chr12:56479243-56479293	IMR90	lung:	fetal
11	chr12:56479243-56479293	HNPCEpiC	eye:	n/a
12	chr12:56479243-56479293	AoSMC	blood vessel:	n/a
13	chr12:56479243-56479293	SKMC	muscle:	n/a
14	chr12:56479243-56479293	HIPEpiC	eye:	n/a
15	chr12:56479243-56479293	HRPEpiC	eye:	n/a
16	chr12:56479243-56479293	HL-60	blood:	n/a
17	chr12:56479243-56479293	HCF	heart:	n/a
18	chr12:56479243-56479293	AG04450	lung:	fetal
19	chr12:56479243-56479293	CMK	blood:	n/a
20	chr12:56479243-56479293	Hepatocyte	liver:	n/a
21	chr12:56479243-56479293	HepG2	liver:	n/a
22	chr12:56479243-56479293	A549	lung:	n/a
23	chr12:56479243-56479293	Hela-S3	cervix:	n/a
24	chr12:56479243-56479293	PANC-1	pancreas:	n/a
25	chr12:56479243-56479293	AG10803	skin:	n/a
26	chr12:56479243-56479293	HPAEpiC	pulmonary alveolar:	n/a
27	chr12:56479243-56479293	AG04449	skin:	fetal
28	chr12:56479243-56479293	U87	brain:	n/a
29	chr12:56479243-56479293	MCF-7	breast:	n/a
30	chr12:56479243-56479293	HCM	heart:	n/a
31	chr12:56479243-56479293	GM12892	blood:	n/a
32	chr12:56479243-56479293	HCT-116	colon:	n/a
33	chr12:56479243-56479293	ECC-1	luminal epithelium:	n/a
34	chr12:56479243-56479293	GM06990	blood:	n/a
35	chr12:56479243-56479293	NHDF-neo	bronchial:	n/a
36	chr12:56479243-56479293	Jurkat	blood:	n/a
37	chr12:56479243-56479293	SK-N-MC	brain:	n/a
38	chr12:56479243-56479293	LNCaP	prostate:	n/a
39	chr12:56479243-56479293	ovcar-3	ovarian:	n/a
40	chr12:56479243-56479293	ProgFib	skin:	n/a
41	chr12:56479243-56479293	GM19239	blood:	n/a
42	chr12:56479243-56479293	SAEC	small airway:	n/a
43	chr12:56479243-56479293	AG09319	gingival:	n/a
44	chr12:56479243-56479293	HEK293	kidney:	embryo
45	chr12:56479243-56479293	NB4	blood:	n/a
46	chr12:56479243-56479293	BE2_C	brain:	n/a
47	chr12:56479243-56479293	HEEpiC	esophagus:	n/a
48	chr12:56479243-56479293	PFSK-1	brain:	n/a
49	chr12:56479243-56479293	BJ	skin:	n/a
50	chr12:56479243-56479293	RPTEC	kidney:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56435284..56441183-chr12:56476886..56481327,8	MCF-7	breast:
2	chr12:56471198..56482935-chr12:56506922..56516262,73	MCF-7	breast:
3	chr12:56471261..56483436-chr12:56494778..56506435,58	MCF-7	breast:
4	chr12:56477785..56480732-chr12:56480999..56482535,2	K562	blood:
5	chr12:56472197..56476808-chr12:56477200..56483474,8	K562	blood:
6	chr12:56434874..56437408-chr12:56478548..56481298,5	MCF-7	breast:
7	chr12:56472058..56475455-chr12:56477194..56480758,7	K562	blood:
8	chr12:56470948..56480058-chr12:56507665..56513741,17	K562	blood:
9	chr12:56478670..56479606-chr12:56519593..56520546,2	K562	blood:
10	chr12:56477888..56479388-chr19:35606832..35608694,2	MCF-7	breast:

No data

Variant related genes	Relation type
ERBB3	TF binding region
ERBB3	CpG island
ENSG00000257449	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000258345	Chromatin interaction
ENSG00000257553	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000089356	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000170515	Chromatin interaction
ENSG00000257411	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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv275479	chr12:56478324-56481063	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56474400-56497200	Weak transcription	Right Atrium	heart
2	chr12:56474800-56479800	Weak transcription	HMEC	breast
3	chr12:56475000-56485600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:56475800-56482400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:56476000-56480000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:56476000-56481000	Weak transcription	Spleen	Spleen
7	chr12:56476000-56481800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:56476200-56497200	Weak transcription	Fetal Kidney	kidney
9	chr12:56476400-56480000	Weak transcription	Fetal Heart	heart
10	chr12:56476400-56480200	Weak transcription	Hela-S3	cervix
11	chr12:56476400-56483200	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr12:56476600-56480400	Weak transcription	A549	lung
13	chr12:56476600-56487400	Weak transcription	Lung	lung
14	chr12:56476600-56496400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:56476600-56497600	Weak transcription	Small Intestine	intestine
16	chr12:56476800-56479800	Weak transcription	HSMMtube	muscle
17	chr12:56476800-56487200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:56477000-56479800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:56477000-56497000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:56477000-56497000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:56477200-56481600	Genic enhancers	Rectal Mucosa Donor 31	rectum
22	chr12:56477600-56480000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:56477600-56496600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:56477800-56479400	Genic enhancers	Fetal Intestine Large	intestine
25	chr12:56477800-56479400	Genic enhancers	Fetal Intestine Small	intestine
26	chr12:56477800-56481400	Genic enhancers	Duodenum Mucosa	Duodenum
27	chr12:56477800-56481600	Genic enhancers	Liver	Liver
28	chr12:56477800-56481600	Genic enhancers	Rectal Mucosa Donor 29	rectum
29	chr12:56477800-56485800	Strong transcription	Fetal Stomach	stomach
30	chr12:56477800-56496200	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr12:56478000-56479400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:56478000-56480400	Genic enhancers	HepG2	liver
33	chr12:56478200-56480000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:56478400-56479400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:56478400-56480800	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:56478600-56496400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:56478800-56481800	Genic enhancers	Brain Substantia Nigra	brain
38	chr12:56478800-56482400	Enhancers	K562	blood
39	chr12:56478800-56483000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:56479000-56480200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr12:56479000-56481200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:56479200-56479600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:56479200-56479800	Weak transcription	Colonic Mucosa	Colon
44	chr12:56479200-56479800	Strong transcription	Fetal Muscle Leg	muscle
45	chr12:56479200-56479800	Weak transcription	NHEK	skin
46	chr12:56479200-56480000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:56479200-56480000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr12:56479200-56480000	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:56479200-56480000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:56479200-56480000	Weak transcription	Placenta	Placenta

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