Variant report

Variant	rs555751322
Chromosome Location	chr12:58026589-58026590
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

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	POLR2A	chr12:58025843-58027192	K562	blood:	n/a	n/a
3	UBTF	chr12:58025989-58027212	K562	blood:	n/a	n/a
4	HA-E2F1	chr12:58026291-58027200	Hela-S3	cervix:	n/a	n/a
5	ZBTB7A	chr12:58026116-58027326	ECC-1	luminal epithelium:	n/a	n/a
6	TAF1	chr12:58025793-58027359	H1-neurons	neurons:	n/a	n/a
7	SIN3AK20	chr12:58026588-58027223	PANC-1	pancreas:	n/a	n/a
8	MAX	chr12:58026529-58027356	H1-hESC	embryonic stem cell:	n/a	n/a
9	TEAD4	chr12:58026469-58027223	SK-N-SH	brain:	n/a	n/a
10	E2F6	chr12:58025823-58027509	A549	lung:	n/a	chr12:58027192-58027201
11	CTCF	chr12:58026440-58026590	GM12864	blood:	n/a	n/a
12	CTCF	chr12:58026440-58026590	HUVEC	blood vessel:	n/a	n/a
13	REST	chr12:58025251-58027842	H1-neurons	neurons:	n/a	chr12:58026939-58026949 chr12:58025258-58025267 chr12:58026880-58026893
14	MAZ	chr12:58025740-58027403	K562	blood:	n/a	n/a
15	MAX	chr12:58026220-58027193	K562	blood:	n/a	n/a
16	CTCF	chr12:58025290-58027579	SK-N-SH	brain:	n/a	chr12:58026689-58026702 chr12:58025999-58026012
17	POLR2A	chr12:58026253-58027221	K562	blood:	n/a	n/a
18	POLR2A	chr12:58026549-58027142	A549	lung:	n/a	n/a
19	MAX	chr12:58025620-58027674	A549	lung:	n/a	n/a
20	RCOR1	chr12:58026016-58027573	K562	blood:	n/a	n/a
21	MAX	chr12:58025803-58027347	A549	lung:	n/a	n/a
22	TCF12	chr12:58025724-58027596	A549	lung:	n/a	chr12:58026170-58026178 chr12:58026653-58026663
23	CTCF	chr12:58026515-58027461	HCT-116	colon:	n/a	chr12:58026689-58026702
24	TBP	chr12:58025973-58027178	K562	blood:	n/a	n/a
25	HEY1	chr12:58026545-58027101	K562	blood:	n/a	chr12:58026897-58026912 chr12:58026600-58026615
26	POLR2A	chr12:58026157-58027157	A549	lung:	n/a	n/a
27	SIN3A	chr12:58025853-58027193	H1-hESC	embryonic stem cell:	n/a	chr12:58026939-58026948
28	POLR2A	chr12:58025505-58027615	H1-neurons	neurons:	n/a	n/a
29	TCF12	chr12:58026578-58027333	ECC-1	luminal epithelium:	n/a	chr12:58026653-58026663
30	MAX	chr12:58026234-58027380	ECC-1	luminal epithelium:	n/a	n/a
31	REST	chr12:58025912-58027284	H1-neurons	neurons:	n/a	chr12:58026939-58026949 chr12:58026880-58026893
32	MYC	chr12:58026035-58027316	K562	blood:	n/a	n/a
33	TBL1XR1	chr12:58026558-58027244	K562	blood:	n/a	n/a
34	MYC	chr12:58026198-58027192	K562	blood:	n/a	n/a
35	MXI1	chr12:58025252-58027427	SK-N-SH	brain:	n/a	n/a
36	HA-E2F1	chr12:58025936-58027531	MCF-7	breast:	n/a	chr12:58027192-58027201
37	EGR1	chr12:58026231-58027278	K562	blood:	n/a	chr12:58026526-58026539 chr12:58027187-58027200
38	ZNF263	chr12:58025874-58027149	K562	blood:	n/a	n/a
39	CTCF	chr12:58026460-58026610	GM12871	blood:	n/a	n/a
40	TAF1	chr12:58026498-58027093	A549	lung:	n/a	n/a
41	E2F6	chr12:58025890-58027512	K562	blood:	n/a	chr12:58027192-58027201
42	POLR2A	chr12:58026309-58027148	K562	blood:	n/a	n/a
43	MAZ	chr12:58026173-58027324	IMR90	lung:	n/a	n/a
44	ELF1	chr12:58026578-58027108	K562	blood:	n/a	n/a
45	MAX	chr12:58026023-58027321	MCF-7	breast:	n/a	n/a
46	ELF1	chr12:58026107-58026598	K562	blood:	n/a	n/a
47	EGR1	chr12:58026549-58027302	HCT-116	colon:	n/a	chr12:58027187-58027200
48	CTCF	chr12:58026520-58026670	GM12869	blood:	n/a	n/a
49	NR2F2	chr12:58025966-58026604	K562	blood:	n/a	n/a
50	EGR1	chr12:58026253-58026648	K562	blood:	n/a	chr12:58026526-58026539

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:58026544-58026594	BJ	skin:	n/a
2	chr12:58026544-58026594	AG04450	lung:	fetal
3	chr12:58026544-58026594	NH-A	brain:	n/a
4	chr12:58026544-58026594	HMEC	breast:	n/a
5	chr12:58026544-58026594	RPTEC	kidney:	n/a
6	chr12:58026544-58026594	A549	lung:	n/a
7	chr12:58026544-58026594	HRE	kidney:	n/a
8	chr12:58026544-58026594	GM12892	blood:	n/a
9	chr12:58026544-58026594	LNCaP	prostate:	n/a
10	chr12:58026544-58026594	T-47D	breast:	n/a
11	chr12:58026544-58026594	NB4	blood:	n/a
12	chr12:58026544-58026594	ovcar-3	ovarian:	n/a
13	chr12:58026544-58026594	PrEC	prostate:	n/a
14	chr12:58026544-58026594	HL-60	blood:	n/a
15	chr12:58026544-58026594	CMK	blood:	n/a
16	chr12:58026544-58026594	HEK293	kidney:	embryo
17	chr12:58026544-58026594	SKMC	muscle:	n/a
18	chr12:58026544-58026594	U87	brain:	n/a
19	chr12:58026544-58026594	AG09309	skin:	n/a
20	chr12:58026544-58026594	GM19239	blood:	n/a
21	chr12:58026544-58026594	HCPEpiC	choroid plexus:	n/a
22	chr12:58026544-58026594	HIPEpiC	eye:	n/a
23	chr12:58026544-58026594	HCT-116	colon:	n/a
24	chr12:58026544-58026594	HEEpiC	esophagus:	n/a
25	chr12:58026544-58026594	HRCEpiC	kidney:	n/a
26	chr12:58026544-58026594	K562	blood:	n/a
27	chr12:58026544-58026594	NHDF-neo	bronchial:	n/a
28	chr12:58026544-58026594	SK-N-MC	brain:	n/a
29	chr12:58026544-58026594	NHBE	bronchial:	n/a
30	chr12:58026544-58026594	AG10803	skin:	n/a
31	chr12:58026544-58026594	HNPCEpiC	eye:	n/a
32	chr12:58026544-58026594	HPAEpiC	pulmonary alveolar:	n/a
33	chr12:58026544-58026594	HUVEC	blood vessel:	n/a
34	chr12:58026544-58026594	AoSMC	blood vessel:	n/a
35	chr12:58026544-58026594	PANC-1	pancreas:	n/a
36	chr12:58026544-58026594	SAEC	small airway:	n/a
37	chr12:58026544-58026594	Jurkat	blood:	n/a
38	chr12:58026544-58026594	MCF-7	breast:	n/a
39	chr12:58026544-58026594	SK-N-SH	brain:	n/a
40	chr12:58026544-58026594	HepG2	liver:	n/a
41	chr12:58026544-58026594	HCF	heart:	n/a
42	chr12:58026544-58026594	GM12878	blood:	n/a
43	chr12:58026544-58026594	GM06990	blood:	n/a
44	chr12:58026544-58026594	AG04449	skin:	fetal
45	chr12:58026544-58026594	ECC-1	luminal epithelium:	n/a
46	chr12:58026544-58026594	ProgFib	skin:	n/a
47	chr12:58026544-58026594	MCF10A-Er-Src	breast:	n/a
48	chr12:58026544-58026594	BE2_C	brain:	n/a
49	chr12:58026544-58026594	HAEpiC	amniotic membrane:	n/a
50	chr12:58026544-58026594	Hela-S3	cervix:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57940164..57942070-chr12:58025601..58028102,2	MCF-7	breast:
2	chr12:58026571..58028240-chr12:58118727..58121626,2	MCF-7	breast:
3	chr12:58017301..58018862-chr12:58026279..58027788,2	MCF-7	breast:
4	chr12:58004618..58008024-chr12:58024930..58028098,5	MCF-7	breast:
5	chr12:57935626..57940631-chr12:58026197..58030320,5	K562	blood:
6	chr12:57908910..57916122-chr12:58022622..58031573,17	K562	blood:
7	chr12:58026407..58027580-chr12:58087150..58087941,5	MCF-7	breast:
8	chr12:57983573..57987941-chr12:58024849..58028209,5	MCF-7	breast:
9	chr12:57939451..57941325-chr12:58024374..58027583,3	K562	blood:
10	chr12:57908910..57916403-chr12:58022622..58028885,15	K562	blood:
11	chr12:58026019..58028946-chr12:58148453..58151531,3	K562	blood:
12	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
ENSG00000175197	Chromatin interaction
ENSG00000178498	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000139266	Chromatin interaction
ENSG00000257499	Chromatin interaction
ENSG00000255737	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000135506	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:121 , 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	chr12:58025600-58026600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
8	chr12:58025600-58026600	Active TSS	Fetal Brain Female	brain
9	chr12:58025600-58027000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr12:58025600-58027000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:58025600-58027000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
12	chr12:58025600-58027000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
13	chr12:58025600-58027000	Active TSS	Right Atrium	heart
14	chr12:58025600-58027200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr12:58025600-58027200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:58025600-58027200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:58025600-58027200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:58025600-58027200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
19	chr12:58025600-58027400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr12:58025600-58027400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:58025600-58027400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:58025600-58027400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:58025600-58027600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr12:58025600-58027600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr12:58025600-58027600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:58025600-58027600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:58025800-58026800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:58025800-58026800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:58025800-58027000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:58025800-58027000	Active TSS	Brain Anterior Caudate	brain
31	chr12:58025800-58027000	Active TSS	Brain Cingulate Gyrus	brain
32	chr12:58025800-58027000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
33	chr12:58025800-58027000	Active TSS	Brain Substantia Nigra	brain
34	chr12:58025800-58027000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr12:58025800-58027000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr12:58025800-58027000	Active TSS	Left Ventricle	heart
37	chr12:58025800-58027000	Active TSS	K562	blood
38	chr12:58025800-58027200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
39	chr12:58025800-58027200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:58025800-58027200	Bivalent Enhancer	Spleen	Spleen
41	chr12:58025800-58027200	Active TSS	A549	lung
42	chr12:58025800-58027400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:58025800-58027400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:58025800-58027400	Active TSS	Psoas Muscle	Psoas
45	chr12:58025800-58027600	Bivalent Enhancer	Liver	Liver
46	chr12:58026000-58026600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr12:58026000-58026800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
48	chr12:58026000-58026800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
49	chr12:58026000-58026800	Flanking Bivalent TSS/Enh	Placenta	Placenta
50	chr12:58026000-58026800	Active TSS	NHDF-Ad	bronchial

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