Variant report

Variant	rs150687711
Chromosome Location	chr12:58027408-58027409
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:58026769-58027424	GM12878	blood:	n/a	n/a
2	E2F6	chr12:58025823-58027509	A549	lung:	n/a	chr12:58027192-58027201
3	CTCF	chr12:58026798-58027589	K562	blood:	n/a	n/a
4	REST	chr12:58025251-58027842	H1-neurons	neurons:	n/a	chr12:58026939-58026949 chr12:58025258-58025267 chr12:58026880-58026893
5	CTCF	chr12:58027300-58027450	HMF	breast:	n/a	n/a
6	TEAD4	chr12:58026711-58027492	K562	blood:	n/a	n/a
7	CTCF	chr12:58025290-58027579	SK-N-SH	brain:	n/a	chr12:58026689-58026702 chr12:58025999-58026012
8	JUND	chr12:58026779-58027494	K562	blood:	n/a	chr12:58027322-58027331
9	MAX	chr12:58025620-58027674	A549	lung:	n/a	n/a
10	RCOR1	chr12:58026016-58027573	K562	blood:	n/a	n/a
11	TCF12	chr12:58025724-58027596	A549	lung:	n/a	chr12:58026170-58026178 chr12:58026653-58026663
12	MAX	chr12:58026615-58027445	HCT-116	colon:	n/a	n/a
13	RCOR1	chr12:58026770-58027475	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr12:58026515-58027461	HCT-116	colon:	n/a	chr12:58026689-58026702
15	CTCF	chr12:58027340-58027490	GM12871	blood:	n/a	n/a
16	CTCF	chr12:58027360-58027510	HFF	foreskin:	n/a	n/a
17	CTCF	chr12:58027270-58027426	GM12892	blood:	n/a	n/a
18	ZNF143	chr12:58026836-58027443	K562	blood:	n/a	chr12:58026901-58026911
19	CTCF	chr12:58027280-58027430	GM12864	blood:	n/a	n/a
20	POLR2A	chr12:58025505-58027615	H1-neurons	neurons:	n/a	n/a
21	SP1	chr12:58026656-58027642	A549	lung:	n/a	chr12:58027177-58027191 chr12:58027307-58027321
22	E2F4	chr12:58026807-58027433	K562	blood:	n/a	chr12:58027192-58027201 chr12:58026971-58026982
23	KAP1	chr12:58026755-58027437	HEK293	kidney:	n/a	n/a
24	MXI1	chr12:58025252-58027427	SK-N-SH	brain:	n/a	n/a
25	CTCF	chr12:58027320-58027470	MCF-7	breast:	n/a	n/a
26	SMC3	chr12:58026760-58027437	Hela-S3	cervix:	n/a	n/a
27	HA-E2F1	chr12:58025936-58027531	MCF-7	breast:	n/a	chr12:58027192-58027201
28	E2F6	chr12:58025890-58027512	K562	blood:	n/a	chr12:58027192-58027201
29	E2F6	chr12:58026621-58027521	H1-hESC	embryonic stem cell:	n/a	chr12:58027192-58027201
30	CTCF	chr12:58027320-58027470	HCFaa	heart:	n/a	n/a
31	MAZ	chr12:58026748-58027521	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr12:58027291-58027429	GM12891	blood:	n/a	n/a
33	SMC3	chr12:58026805-58027422	GM12878	blood:	n/a	n/a
34	FOSL2	chr12:58026803-58027606	A549	lung:	n/a	chr12:58027547-58027559 chr12:58027322-58027331
35	CTCF	chr12:58026769-58027432	K562	blood:	n/a	n/a
36	CTCF	chr12:58026112-58027523	K562	blood:	n/a	chr12:58026689-58026702
37	CTCF	chr12:58025888-58027618	A549	lung:	n/a	chr12:58026689-58026702 chr12:58025999-58026012
38	CTCF	chr12:58027300-58027450	AG04449	skin:	n/a	n/a
39	CTCF	chr12:58026844-58027442	GM19240	blood:	n/a	n/a
40	CTCF	chr12:58027304-58027449	MCF-7	breast:	n/a	n/a
41	JUN	chr12:58026099-58027646	K562	blood:	n/a	chr12:58027547-58027559 chr12:58027322-58027331
42	BRCA1	chr12:58027364-58027498	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr12:58025419-58027668	H1-neurons	neurons:	n/a	n/a
44	TBL1XR1	chr12:58026739-58027493	K562	blood:	n/a	n/a

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:

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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
8	esv3493502	chr12:58027226-58031438	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	n/a
9	nsv559037	chr12:58027307-58028863	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a
10	esv3493505	chr12:58027335-58030233	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58025000-58027600	Active TSS	Brain Angular Gyrus	brain
2	chr12:58025400-58027600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr12:58025400-58027600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:58025600-58027600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:58025600-58027600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr12:58025600-58027600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:58025600-58027600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:58025800-58027600	Bivalent Enhancer	Liver	Liver
9	chr12:58026200-58027600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
10	chr12:58026800-58027600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr12:58027000-58027600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr12:58027000-58027600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
13	chr12:58027000-58027600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr12:58027000-58027600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
15	chr12:58027000-58027600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:58027000-58027600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:58027000-58027600	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr12:58027000-58027600	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr12:58027000-58027600	Enhancers	Fetal Brain Male	brain
20	chr12:58027000-58027600	Bivalent Enhancer	Fetal Heart	heart
21	chr12:58027000-58027600	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr12:58027000-58027600	Flanking Active TSS	Hela-S3	cervix
23	chr12:58027200-58027600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:58027200-58027600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
25	chr12:58027200-58027600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:58027200-58027600	Bivalent Enhancer	Primary B cells from cord blood	blood
27	chr12:58027200-58027600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr12:58027200-58027600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr12:58027200-58027600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:58027200-58027600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr12:58027200-58027600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:58027200-58027600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr12:58027200-58027600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
34	chr12:58027200-58027600	Flanking Active TSS	Fetal Brain Female	brain
35	chr12:58027200-58027600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr12:58027200-58027600	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr12:58027200-58027600	Flanking Active TSS	A549	lung
38	chr12:58027200-58027600	Bivalent Enhancer	NHEK	skin
39	chr12:58027200-58028000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:58027200-58033600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:58027400-58027600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr12:58027400-58027600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:58027400-58027600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:58027400-58027600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr12:58027400-58027600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:58027400-58027600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:58027400-58027600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
48	chr12:58027400-58027600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
49	chr12:58027400-58027600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
50	chr12:58027400-58027600	Enhancers	Cortex derived primary cultured neurospheres	brain

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