Variant report

Variant	rs193031847
Chromosome Location	chr12:58027243-58027244
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:122)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
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	EP300	chr12:58027039-58027282	HepG2	liver:	n/a	n/a
2	CTCF	chr12:58027160-58027310	Caco-2	colon:	n/a	n/a
3	CTCF	chr12:58026769-58027424	GM12878	blood:	n/a	n/a
4	RAD21	chr12:58026644-58027323	SK-N-SH	brain:	n/a	n/a
5	ZBTB7A	chr12:58026116-58027326	ECC-1	luminal epithelium:	n/a	n/a
6	E2F6	chr12:58026755-58027313	A549	lung:	n/a	chr12:58027192-58027201
7	TAF1	chr12:58025793-58027359	H1-neurons	neurons:	n/a	n/a
8	MAX	chr12:58026529-58027356	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr12:58026674-58027303	SK-N-SH	brain:	n/a	n/a
10	NR2F2	chr12:58026763-58027386	K562	blood:	n/a	n/a
11	E2F6	chr12:58025823-58027509	A549	lung:	n/a	chr12:58027192-58027201
12	CTCF	chr12:58026665-58027390	MCF-7	breast:	n/a	chr12:58026689-58026702
13	FOXA2	chr12:58026774-58027266	A549	lung:	n/a	n/a
14	RAD21	chr12:58026727-58027287	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr12:58026798-58027589	K562	blood:	n/a	n/a
16	EGR1	chr12:58026747-58027280	MCF-7	breast:	n/a	chr12:58027187-58027200
17	REST	chr12:58025251-58027842	H1-neurons	neurons:	n/a	chr12:58026939-58026949 chr12:58025258-58025267 chr12:58026880-58026893
18	TEAD4	chr12:58026711-58027492	K562	blood:	n/a	n/a
19	MAZ	chr12:58025740-58027403	K562	blood:	n/a	n/a
20	CTCF	chr12:58025290-58027579	SK-N-SH	brain:	n/a	chr12:58026689-58026702 chr12:58025999-58026012
21	MAX	chr12:58026621-58027357	HepG2	liver:	n/a	n/a
22	TEAD4	chr12:58026801-58027316	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr12:58026704-58027310	MCF-7	breast:	n/a	n/a
24	JUND	chr12:58026779-58027494	K562	blood:	n/a	chr12:58027322-58027331
25	MAX	chr12:58025620-58027674	A549	lung:	n/a	n/a
26	RCOR1	chr12:58026016-58027573	K562	blood:	n/a	n/a
27	MAX	chr12:58025803-58027347	A549	lung:	n/a	n/a
28	TCF12	chr12:58025724-58027596	A549	lung:	n/a	chr12:58026170-58026178 chr12:58026653-58026663
29	MAX	chr12:58026615-58027445	HCT-116	colon:	n/a	n/a
30	RCOR1	chr12:58026770-58027475	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr12:58026515-58027461	HCT-116	colon:	n/a	chr12:58026689-58026702
32	ZNF143	chr12:58026836-58027443	K562	blood:	n/a	chr12:58026901-58026911
33	POLR2A	chr12:58025505-58027615	H1-neurons	neurons:	n/a	n/a
34	TCF12	chr12:58026578-58027333	ECC-1	luminal epithelium:	n/a	chr12:58026653-58026663
35	MAX	chr12:58026234-58027380	ECC-1	luminal epithelium:	n/a	n/a
36	REST	chr12:58025912-58027284	H1-neurons	neurons:	n/a	chr12:58026939-58026949 chr12:58026880-58026893
37	CEBPB	chr12:58026919-58027379	H1-hESC	embryonic stem cell:	n/a	n/a
38	MYC	chr12:58026035-58027316	K562	blood:	n/a	n/a
39	TBL1XR1	chr12:58026558-58027244	K562	blood:	n/a	n/a
40	TEAD4	chr12:58026762-58027308	K562	blood:	n/a	n/a
41	SP1	chr12:58026656-58027642	A549	lung:	n/a	chr12:58027177-58027191 chr12:58027307-58027321
42	POLR2A	chr12:58026647-58027307	SK-N-MC	brain:	n/a	n/a
43	E2F4	chr12:58026807-58027433	K562	blood:	n/a	chr12:58027192-58027201 chr12:58026971-58026982
44	KAP1	chr12:58026755-58027437	HEK293	kidney:	n/a	n/a
45	MXI1	chr12:58025252-58027427	SK-N-SH	brain:	n/a	n/a
46	SMC3	chr12:58026760-58027437	Hela-S3	cervix:	n/a	n/a
47	TEAD4	chr12:58026737-58027351	ECC-1	luminal epithelium:	n/a	n/a
48	HA-E2F1	chr12:58025936-58027531	MCF-7	breast:	n/a	chr12:58027192-58027201
49	YY1	chr12:58026727-58027253	HepG2	liver:	n/a	chr12:58026899-58026908 chr12:58026830-58026841 chr12:58027189-58027198
50	EGR1	chr12:58026231-58027278	K562	blood:	n/a	chr12:58026526-58026539 chr12:58027187-58027200

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:58027197-58027247	GM06990	blood:	n/a
2	chr12:58027197-58027247	SAEC	small airway:	n/a
3	chr12:58027197-58027247	Caco-2	colon:	n/a
4	chr12:58027197-58027247	ovcar-3	ovarian:	n/a
5	chr12:58027197-58027247	HL-60	blood:	n/a
6	chr12:58027197-58027247	HEEpiC	esophagus:	n/a
7	chr12:58027199-58027249	GM12892	blood:	n/a
8	chr12:58027197-58027247	CMK	blood:	n/a
9	chr12:58027199-58027249	Hela-S3	cervix:	n/a
10	chr12:58027197-58027247	GM19239	blood:	n/a
11	chr12:58027199-58027249	AG09309	skin:	n/a
12	chr12:58027197-58027247	AG04449	skin:	fetal
13	chr12:58027199-58027249	Caco-2	colon:	n/a
14	chr12:58027197-58027247	HepG2	liver:	n/a
15	chr12:58027199-58027249	GM12878	blood:	n/a
16	chr12:58027199-58027249	AG04449	skin:	fetal
17	chr12:58027199-58027249	HRE	kidney:	n/a
18	chr12:58027199-58027249	ECC-1	luminal epithelium:	n/a
19	chr12:58027197-58027247	HRCEpiC	kidney:	n/a
20	chr12:58027197-58027247	AoSMC	blood vessel:	n/a
21	chr12:58027199-58027249	RPTEC	kidney:	n/a
22	chr12:58027197-58027247	PrEC	prostate:	n/a
23	chr12:58027199-58027249	NHBE	bronchial:	n/a
24	chr12:58027197-58027247	T-47D	breast:	n/a
25	chr12:58027197-58027247	Hela-S3	cervix:	n/a
26	chr12:58027197-58027247	SKMC	muscle:	n/a
27	chr12:58027199-58027249	GM19239	blood:	n/a
28	chr12:58027199-58027249	HCM	heart:	n/a
29	chr12:58027199-58027249	SKMC	muscle:	n/a
30	chr12:58027197-58027247	GM12892	blood:	n/a
31	chr12:58027199-58027249	GM06990	blood:	n/a
32	chr12:58027199-58027249	HMEC	breast:	n/a
33	chr12:58027197-58027247	SK-N-SH	brain:	n/a
34	chr12:58027199-58027249	HRCEpiC	kidney:	n/a
35	chr12:58027199-58027249	HUVEC	blood vessel:	n/a
36	chr12:58027197-58027247	MCF10A-Er-Src	breast:	n/a
37	chr12:58027197-58027247	U87	brain:	n/a
38	chr12:58027199-58027249	GM12891	blood:	n/a
39	chr12:58027199-58027249	K562	blood:	n/a
40	chr12:58027197-58027247	PANC-1	pancreas:	n/a
41	chr12:58027197-58027247	SK-N-MC	brain:	n/a
42	chr12:58027197-58027247	Hepatocyte	liver:	n/a
43	chr12:58027199-58027249	T-47D	breast:	n/a
44	chr12:58027199-58027249	CMK	blood:	n/a
45	chr12:58027197-58027247	HRPEpiC	eye:	n/a
46	chr12:58027197-58027247	A549	lung:	n/a
47	chr12:58027197-58027247	BE2_C	brain:	n/a
48	chr12:58027197-58027247	BJ	skin:	n/a
49	chr12:58027199-58027249	MCF10A-Er-Src	breast:	n/a
50	chr12:58027199-58027249	Hepatocyte	liver:	n/a

(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
B4GALNT1	CpG island
ENSG00000135502	Chromatin interaction
ENSG00000255737	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000257499	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000139266	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000178498	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000135506	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:91 , 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	chr12:58025400-58027400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:58025400-58027400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:58025400-58027600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr12:58025400-58027600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:58025600-58027400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr12:58025600-58027400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:58025600-58027400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:58025600-58027400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:58025600-58027600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr12:58025600-58027600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr12:58025600-58027600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:58025600-58027600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:58025800-58027400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:58025800-58027400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:58025800-58027400	Active TSS	Psoas Muscle	Psoas
17	chr12:58025800-58027600	Bivalent Enhancer	Liver	Liver
18	chr12:58026000-58027400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:58026000-58027400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:58026000-58027400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:58026000-58027400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
22	chr12:58026000-58027400	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr12:58026200-58027400	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr12:58026200-58027400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:58026200-58027400	Active TSS	NHLF	lung
26	chr12:58026200-58027600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
27	chr12:58026600-58027400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
28	chr12:58026600-58027400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
29	chr12:58026800-58027400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr12:58026800-58027600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr12:58027000-58027400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:58027000-58027400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:58027000-58027400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
34	chr12:58027000-58027400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:58027000-58027400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:58027000-58027400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
37	chr12:58027000-58027400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:58027000-58027400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:58027000-58027400	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr12:58027000-58027400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr12:58027000-58027400	Bivalent Enhancer	Fetal Intestine Small	intestine
42	chr12:58027000-58027400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr12:58027000-58027400	Enhancers	Left Ventricle	heart
44	chr12:58027000-58027400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
45	chr12:58027000-58027400	Flanking Active TSS	GM12878-XiMat	blood
46	chr12:58027000-58027400	Flanking Active TSS	HMEC	breast
47	chr12:58027000-58027400	Flanking Active TSS	K562	blood
48	chr12:58027000-58027600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr12:58027000-58027600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
50	chr12:58027000-58027600	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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