Variant report

Variant	rs547227823
Chromosome Location	chr12:58026301-58026302
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:58026280-58026430	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:58025843-58027192	K562	blood:	n/a	n/a
3	CTCF	chr12:58026200-58026350	GM12873	blood:	n/a	n/a
4	UBTF	chr12:58025989-58027212	K562	blood:	n/a	n/a
5	HA-E2F1	chr12:58026291-58027200	Hela-S3	cervix:	n/a	n/a
6	ZBTB7A	chr12:58026116-58027326	ECC-1	luminal epithelium:	n/a	n/a
7	MAFK	chr12:58026284-58026439	HepG2	liver:	n/a	chr12:58026375-58026386
8	TAF1	chr12:58025793-58027359	H1-neurons	neurons:	n/a	n/a
9	CTCF	chr12:58026300-58026450	GM12874	blood:	n/a	n/a
10	CTCF	chr12:58026300-58026450	AG10803	skin:	n/a	n/a
11	E2F6	chr12:58025823-58027509	A549	lung:	n/a	chr12:58027192-58027201
12	ZBTB7A	chr12:58026258-58026450	HepG2	liver:	n/a	n/a
13	CTCF	chr12:58026300-58026450	GM12866	blood:	n/a	n/a
14	SUZ12	chr12:58025080-58026351	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr12:58026275-58026520	HepG2	liver:	n/a	n/a
16	REST	chr12:58025251-58027842	H1-neurons	neurons:	n/a	chr12:58026939-58026949 chr12:58025258-58025267 chr12:58026880-58026893
17	SMC3	chr12:58026260-58026460	K562	blood:	n/a	n/a
18	CTCF	chr12:58026229-58026562	K562	blood:	n/a	n/a
19	MAZ	chr12:58025740-58027403	K562	blood:	n/a	n/a
20	MAX	chr12:58026220-58027193	K562	blood:	n/a	n/a
21	CTCF	chr12:58025290-58027579	SK-N-SH	brain:	n/a	chr12:58026689-58026702 chr12:58025999-58026012
22	POLR2A	chr12:58026253-58027221	K562	blood:	n/a	n/a
23	JUND	chr12:58026167-58026526	K562	blood:	n/a	n/a
24	CTCF	chr12:58026300-58026450	SK-N-SH_RA	brain:	n/a	n/a
25	MAX	chr12:58025620-58027674	A549	lung:	n/a	n/a
26	RCOR1	chr12:58026016-58027573	K562	blood:	n/a	n/a
27	POLR2A	chr12:58026235-58026544	K562	blood:	n/a	n/a
28	POLR2A	chr12:58026244-58026486	A549	lung:	n/a	n/a
29	MAX	chr12:58025803-58027347	A549	lung:	n/a	n/a
30	TCF12	chr12:58025724-58027596	A549	lung:	n/a	chr12:58026170-58026178 chr12:58026653-58026663
31	BACH1	chr12:58025589-58026517	H1-hESC	embryonic stem cell:	n/a	n/a
32	TBP	chr12:58025973-58027178	K562	blood:	n/a	n/a
33	BHLHE40	chr12:58026000-58026564	K562	blood:	n/a	n/a
34	CTCFL	chr12:58026290-58026502	K562	blood:	n/a	n/a
35	CTCF	chr12:58026300-58026450	GM12870	blood:	n/a	n/a
36	HCFC1	chr12:58026051-58026453	K562	blood:	n/a	n/a
37	ELF1	chr12:58025914-58026361	GM12878	blood:	n/a	n/a
38	SIN3AK20	chr12:58026042-58026525	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr12:58026157-58027157	A549	lung:	n/a	n/a
40	SIN3A	chr12:58025853-58027193	H1-hESC	embryonic stem cell:	n/a	chr12:58026939-58026948
41	CTCF	chr12:58026301-58026492	GM12891	blood:	n/a	n/a
42	POLR2A	chr12:58025505-58027615	H1-neurons	neurons:	n/a	n/a
43	MAX	chr12:58026234-58027380	ECC-1	luminal epithelium:	n/a	n/a
44	REST	chr12:58025912-58027284	H1-neurons	neurons:	n/a	chr12:58026939-58026949 chr12:58026880-58026893
45	POLR2A	chr12:58026161-58026539	A549	lung:	n/a	n/a
46	MYC	chr12:58026035-58027316	K562	blood:	n/a	n/a
47	MXI1	chr12:58026135-58026335	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr12:58026198-58027192	K562	blood:	n/a	n/a
49	CTCF	chr12:58026205-58026582	K562	blood:	n/a	n/a
50	MXI1	chr12:58025252-58027427	SK-N-SH	brain:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57940164..57942070-chr12:58025601..58028102,2	MCF-7	breast:
2	chr12:58017301..58018862-chr12:58026279..58027788,2	MCF-7	breast:
3	chr12:58004618..58008024-chr12:58024930..58028098,5	MCF-7	breast:
4	chr12:57912525..57914628-chr12:58024523..58026539,2	MCF-7	breast:
5	chr12:57935626..57940631-chr12:58026197..58030320,5	K562	blood:
6	chr12:57908910..57916122-chr12:58022622..58031573,17	K562	blood:
7	chr12:57983573..57987941-chr12:58024849..58028209,5	MCF-7	breast:
8	chr12:57939451..57941325-chr12:58024374..58027583,3	K562	blood:
9	chr12:57908910..57916403-chr12:58022622..58028885,15	K562	blood:
10	chr12:58026019..58028946-chr12:58148453..58151531,3	K562	blood:
11	chr12:57997114..58001112-chr12:58025485..58030490,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCTN2-2	chr12:58025698-58026463	NONHSAT028949

No data

Variant related genes	Relation type
B4GALNT1	TF binding region
ENSG00000208028	Chromatin interaction
ENSG00000135502	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000139266	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000178498	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	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv3404611	chr12:58026085-58030983	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58025000-58027600	Active TSS	Brain Angular Gyrus	brain
2	chr12:58025400-58026400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr12:58025400-58026400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:58025400-58026400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
5	chr12:58025400-58027000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:58025400-58027400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:58025400-58027400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:58025400-58027600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr12:58025400-58027600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr12:58025600-58026400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:58025600-58026400	Bivalent Enhancer	Fetal Heart	heart
12	chr12:58025600-58026400	Bivalent Enhancer	Fetal Lung	lung
13	chr12:58025600-58026400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
14	chr12:58025600-58026400	Flanking Active TSS	HMEC	breast
15	chr12:58025600-58026600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
16	chr12:58025600-58026600	Active TSS	Fetal Brain Female	brain
17	chr12:58025600-58027000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr12:58025600-58027000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:58025600-58027000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
20	chr12:58025600-58027000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
21	chr12:58025600-58027000	Active TSS	Right Atrium	heart
22	chr12:58025600-58027200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr12:58025600-58027200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:58025600-58027200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:58025600-58027200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:58025600-58027200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
27	chr12:58025600-58027400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr12:58025600-58027400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:58025600-58027400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:58025600-58027400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:58025600-58027600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr12:58025600-58027600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr12:58025600-58027600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:58025600-58027600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:58025800-58026400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:58025800-58026400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
37	chr12:58025800-58026400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
38	chr12:58025800-58026400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
39	chr12:58025800-58026400	Active TSS	Fetal Brain Male	brain
40	chr12:58025800-58026800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:58025800-58026800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:58025800-58027000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:58025800-58027000	Active TSS	Brain Anterior Caudate	brain
44	chr12:58025800-58027000	Active TSS	Brain Cingulate Gyrus	brain
45	chr12:58025800-58027000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
46	chr12:58025800-58027000	Active TSS	Brain Substantia Nigra	brain
47	chr12:58025800-58027000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr12:58025800-58027000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr12:58025800-58027000	Active TSS	Left Ventricle	heart
50	chr12:58025800-58027000	Active TSS	K562	blood

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