Variant report

Variant	rs542914972
Chromosome Location	chr12:58026965-58026966
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:397)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr12:58026537-58027172	Hela-S3	cervix:	n/a	chr12:58026801-58026811
2	CTCF	chr12:58026920-58027070	AG09319	gingival:	n/a	n/a
3	CTCF	chr12:58026920-58027070	AG09309	skin:	n/a	n/a
4	POLR2A	chr12:58025843-58027192	K562	blood:	n/a	n/a
5	CTCF	chr12:58026920-58027070	GM12869	blood:	n/a	n/a
6	CTCF	chr12:58026856-58027178	NHEK	skin:	n/a	n/a
7	CTCF	chr12:58026940-58027090	GM12878	blood:	n/a	n/a
8	CTCF	chr12:58026769-58027424	GM12878	blood:	n/a	n/a
9	CHD1	chr12:58026770-58027192	IMR90	lung:	n/a	chr12:58026801-58026811
10	CTCF	chr12:58026920-58027070	HRE	kidney:	n/a	n/a
11	RAD21	chr12:58026644-58027323	SK-N-SH	brain:	n/a	n/a
12	UBTF	chr12:58025989-58027212	K562	blood:	n/a	n/a
13	CTCF	chr12:58026920-58027070	HCM	heart:	n/a	n/a
14	MYC	chr12:58026810-58027169	NB4	blood:	n/a	n/a
15	HA-E2F1	chr12:58026291-58027200	Hela-S3	cervix:	n/a	n/a
16	ZBTB7A	chr12:58026116-58027326	ECC-1	luminal epithelium:	n/a	n/a
17	CTCF	chr12:58026771-58027235	MCF-7	breast:	n/a	n/a
18	E2F6	chr12:58026755-58027313	A549	lung:	n/a	chr12:58027192-58027201
19	TAF1	chr12:58025793-58027359	H1-neurons	neurons:	n/a	n/a
20	CTCF	chr12:58026920-58027070	AG10803	skin:	n/a	n/a
21	SIN3AK20	chr12:58026588-58027223	PANC-1	pancreas:	n/a	n/a
22	NR2F2	chr12:58026848-58027172	K562	blood:	n/a	n/a
23	MAX	chr12:58026529-58027356	H1-hESC	embryonic stem cell:	n/a	n/a
24	TEAD4	chr12:58026469-58027223	SK-N-SH	brain:	n/a	n/a
25	MAX	chr12:58026674-58027303	SK-N-SH	brain:	n/a	n/a
26	ZNF143	chr12:58026852-58027170	Hela-S3	cervix:	n/a	chr12:58026901-58026911
27	NR2F2	chr12:58026763-58027386	K562	blood:	n/a	n/a
28	E2F6	chr12:58025823-58027509	A549	lung:	n/a	chr12:58027192-58027201
29	MYC	chr12:58026954-58027087	MCF-7	breast:	n/a	n/a
30	CTCF	chr12:58026859-58027203	GM10248	blood:	n/a	n/a
31	CTCF	chr12:58026665-58027390	MCF-7	breast:	n/a	chr12:58026689-58026702
32	FOXA2	chr12:58026774-58027266	A549	lung:	n/a	n/a
33	CTCF	chr12:58026960-58027110	NHDF-neo	bronchial:	n/a	n/a
34	RAD21	chr12:58026727-58027287	H1-hESC	embryonic stem cell:	n/a	n/a
35	YY1	chr12:58026821-58027106	K562	blood:	n/a	chr12:58026899-58026908 chr12:58026830-58026841
36	CTCF	chr12:58026798-58027589	K562	blood:	n/a	n/a
37	ARID3A	chr12:58026897-58027055	K562	blood:	n/a	n/a
38	CTCF	chr12:58026960-58027110	GM12865	blood:	n/a	n/a
39	CTCF	chr12:58026920-58027070	NHEK	skin:	n/a	n/a
40	EGR1	chr12:58026747-58027280	MCF-7	breast:	n/a	chr12:58027187-58027200
41	REST	chr12:58025251-58027842	H1-neurons	neurons:	n/a	chr12:58026939-58026949 chr12:58025258-58025267 chr12:58026880-58026893
42	SMC3	chr12:58026802-58027202	K562	blood:	n/a	n/a
43	CTCF	chr12:58026840-58027164	K562	blood:	n/a	n/a
44	CREB1	chr12:58026691-58027174	A549	lung:	n/a	n/a
45	CTCF	chr12:58026845-58027160	LNCaP	prostate:	n/a	n/a
46	RUNX3	chr12:58026740-58027185	GM12878	blood:	n/a	n/a
47	CTCF	chr12:58026920-58027070	GM12874	blood:	n/a	n/a
48	TEAD4	chr12:58026711-58027492	K562	blood:	n/a	n/a
49	POLR2A	chr12:58026790-58027140	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr12:58026960-58027110	GM12866	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57940164..57942070-chr12:58025601..58028102,2	MCF-7	breast:
2	chr12:58026893..58027508-chr12:58087361..58087934,2	K562	blood:
3	chr12:58026571..58028240-chr12:58118727..58121626,2	MCF-7	breast:
4	chr12:58017301..58018862-chr12:58026279..58027788,2	MCF-7	breast:
5	chr12:58004618..58008024-chr12:58024930..58028098,5	MCF-7	breast:
6	chr12:57935626..57940631-chr12:58026197..58030320,5	K562	blood:
7	chr12:57908910..57916122-chr12:58022622..58031573,17	K562	blood:
8	chr12:58026407..58027580-chr12:58087150..58087941,5	MCF-7	breast:
9	chr12:57983573..57987941-chr12:58024849..58028209,5	MCF-7	breast:
10	chr12:57939451..57941325-chr12:58024374..58027583,3	K562	blood:
11	chr12:57908910..57916403-chr12:58022622..58028885,15	K562	blood:
12	chr12:57915782..57916713-chr12:58026905..58027434,2	MCF-7	breast:
13	chr12:57983391..57985108-chr12:58026747..58028430,2	MCF-7	breast:
14	chr12:58026019..58028946-chr12:58148453..58151531,3	K562	blood:
15	chr12:57997114..58001112-chr12:58025485..58030490,5	MCF-7	breast:

No data

Variant related genes	Relation type
B4GALNT1	TF binding region
ENSG00000240771	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000139266	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000257499	Chromatin interaction
ENSG00000178498	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000135502	Chromatin interaction
ENSG00000255737	Chromatin interaction
ENSG00000135506	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	esv1797714	chr12:58026786-58028934	Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a
6	nsv511490	chr12:58026786-58035706	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
7	esv3493503	chr12:58026835-58030383	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 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	chr12:58025400-58027000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr12:58025400-58027400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:58025400-58027400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:58025400-58027600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr12:58025400-58027600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr12:58025600-58027000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr12:58025600-58027000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:58025600-58027000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
10	chr12:58025600-58027000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
11	chr12:58025600-58027000	Active TSS	Right Atrium	heart
12	chr12:58025600-58027200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr12:58025600-58027200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:58025600-58027200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:58025600-58027200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:58025600-58027200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
17	chr12:58025600-58027400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr12:58025600-58027400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:58025600-58027400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:58025600-58027400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:58025600-58027600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:58025600-58027600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr12:58025600-58027600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:58025600-58027600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:58025800-58027000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:58025800-58027000	Active TSS	Brain Anterior Caudate	brain
27	chr12:58025800-58027000	Active TSS	Brain Cingulate Gyrus	brain
28	chr12:58025800-58027000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
29	chr12:58025800-58027000	Active TSS	Brain Substantia Nigra	brain
30	chr12:58025800-58027000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr12:58025800-58027000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr12:58025800-58027000	Active TSS	Left Ventricle	heart
33	chr12:58025800-58027000	Active TSS	K562	blood
34	chr12:58025800-58027200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
35	chr12:58025800-58027200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:58025800-58027200	Bivalent Enhancer	Spleen	Spleen
37	chr12:58025800-58027200	Active TSS	A549	lung
38	chr12:58025800-58027400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:58025800-58027400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:58025800-58027400	Active TSS	Psoas Muscle	Psoas
41	chr12:58025800-58027600	Bivalent Enhancer	Liver	Liver
42	chr12:58026000-58027000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:58026000-58027000	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr12:58026000-58027000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
45	chr12:58026000-58027000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr12:58026000-58027000	Bivalent/Poised TSS	HSMM	muscle
47	chr12:58026000-58027200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:58026000-58027400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:58026000-58027400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:58026000-58027400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin

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