Variant report

Variant	rs528826116
Chromosome Location	chr12:123874271-123874272
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:137)
CpG islands
(count:61)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:137 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:123874078-123874491	GM12892	blood:	n/a	n/a
2	CTCF	chr12:123874140-123874290	HFF	foreskin:	n/a	n/a
3	YY1	chr12:123873701-123874489	GM12878	blood:	n/a	chr12:123874360-123874374 chr12:123874363-123874377
4	MXI1	chr12:123872542-123875203	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr12:123874260-123874410	GM12866	blood:	n/a	n/a
6	POLR2A	chr12:123874126-123874907	Hela-S3	cervix:	n/a	n/a
7	SIN3AK20	chr12:123874119-123875194	MCF-7	breast:	n/a	n/a
8	YY1	chr12:123874069-123874452	ECC-1	luminal epithelium:	n/a	chr12:123874360-123874374 chr12:123874363-123874377
9	RAD21	chr12:123874102-123874287	K562	blood:	n/a	n/a
10	YY1	chr12:123874161-123874477	A549	lung:	n/a	chr12:123874360-123874374 chr12:123874363-123874377
11	YY1	chr12:123874070-123874375	K562	blood:	n/a	chr12:123874360-123874374
12	MYC	chr12:123874079-123874497	K562	blood:	n/a	n/a
13	POLR2A	chr12:123874220-123874401	GM12878	blood:	n/a	n/a
14	RAD21	chr12:123874038-123874446	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr12:123873853-123874593	HepG2	liver:	n/a	chr12:123874360-123874374 chr12:123874363-123874377
16	YY1	chr12:123874091-123874529	ECC-1	luminal epithelium:	n/a	chr12:123874360-123874374 chr12:123874363-123874377
17	TAF1	chr12:123874201-123874670	HepG2	liver:	n/a	n/a
18	POLR2A	chr12:123874056-123875176	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr12:123874167-123874634	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr12:123874260-123874410	GM12873	blood:	n/a	n/a
21	RUNX3	chr12:123874238-123874642	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:123874251-123874476	HepG2	liver:	n/a	n/a
23	UBTF	chr12:123872089-123874739	K562	blood:	n/a	n/a
24	POLR2A	chr12:123873952-123874578	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr12:123874203-123874587	Hela-S3	cervix:	n/a	n/a
26	YY1	chr12:123873986-123874414	K562	blood:	n/a	chr12:123874360-123874374 chr12:123874363-123874377
27	POLR2A	chr12:123874202-123874590	HepG2	liver:	n/a	n/a
28	ZNF263	chr12:123874248-123874989	HEK293-T-REx	kidney:	n/a	n/a
29	MAZ	chr12:123874251-123874444	GM12878	blood:	n/a	n/a
30	YY1	chr12:123874071-123874398	H1-hESC	embryonic stem cell:	n/a	chr12:123874360-123874374 chr12:123874363-123874377
31	ELF1	chr12:123873977-123874813	GM12878	blood:	n/a	n/a
32	CTCF	chr12:123874159-123874312	IMR90	lung:	n/a	n/a
33	MAZ	chr12:123872947-123875108	IMR90	lung:	n/a	chr12:123874490-123874499
34	EBF1	chr12:123874062-123874303	GM12878	blood:	n/a	n/a
35	CTCF	chr12:123874200-123874350	HBMEC	blood vessel:	n/a	n/a
36	POLR2A	chr12:123873084-123874637	NB4	blood:	n/a	n/a
37	MYC	chr12:123874219-123874326	MCF-7	breast:	n/a	n/a
38	HEY1	chr12:123874231-123874474	K562	blood:	n/a	chr12:123874426-123874441
39	CTCF	chr12:123874140-123874290	HRPEpiC	eye:	n/a	n/a
40	SIN3AK20	chr12:123874270-123874593	HepG2	liver:	n/a	n/a
41	MAX	chr12:123873953-123874703	A549	lung:	n/a	chr12:123874490-123874499
42	POLR2A	chr12:123872536-123874596	GM18505	blood:	n/a	n/a
43	ZBTB7A	chr12:123874024-123874590	K562	blood:	n/a	n/a
44	MXI1	chr12:123872709-123875094	IMR90	lung:	n/a	n/a
45	MYC	chr12:123874159-123874575	K562	blood:	n/a	chr12:123874490-123874499
46	CTCF	chr12:123874160-123874310	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr12:123874160-123874310	HEK293	kidney:	n/a	n/a
48	GABPA	chr12:123874053-123874873	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr12:123874200-123874350	GM12872	blood:	n/a	n/a
50	MAZ	chr12:123874229-123874558	Hela-S3	cervix:	n/a	chr12:123874490-123874499

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123874243-123874293	AG04450	lung:	fetal
2	chr12:123874243-123874293	HRE	kidney:	n/a
3	chr12:123874243-123874293	NT2-D1	testis:	n/a
4	chr12:123874243-123874293	SK-N-MC	brain:	n/a
5	chr12:123874243-123874293	NHDF-neo	bronchial:	n/a
6	chr12:123874243-123874293	NH-A	brain:	n/a
7	chr12:123874243-123874293	HCT-116	colon:	n/a
8	chr12:123874243-123874293	Jurkat	blood:	n/a
9	chr12:123874243-123874293	AG09309	skin:	n/a
10	chr12:123874243-123874293	ovcar-3	ovarian:	n/a
11	chr12:123874243-123874293	GM06990	blood:	n/a
12	chr12:123874243-123874293	HL-60	blood:	n/a
13	chr12:123874243-123874293	Caco-2	colon:	n/a
14	chr12:123874243-123874293	HCF	heart:	n/a
15	chr12:123874243-123874293	BE2_C	brain:	n/a
16	chr12:123874243-123874293	GM19239	blood:	n/a
17	chr12:123874243-123874293	HEEpiC	esophagus:	n/a
18	chr12:123874243-123874293	HMEC	breast:	n/a
19	chr12:123874243-123874293	HCPEpiC	choroid plexus:	n/a
20	chr12:123874243-123874293	HCM	heart:	n/a
21	chr12:123874243-123874293	PANC-1	pancreas:	n/a
22	chr12:123874243-123874293	PrEC	prostate:	n/a
23	chr12:123874243-123874293	RPTEC	kidney:	n/a
24	chr12:123874243-123874293	HNPCEpiC	eye:	n/a
25	chr12:123874243-123874293	ECC-1	luminal epithelium:	n/a
26	chr12:123874243-123874293	PFSK-1	brain:	n/a
27	chr12:123874243-123874293	MCF-7	breast:	n/a
28	chr12:123874243-123874293	LNCaP	prostate:	n/a
29	chr12:123874243-123874293	HAEpiC	amniotic membrane:	n/a
30	chr12:123874243-123874293	GM12892	blood:	n/a
31	chr12:123874243-123874293	GM12878	blood:	n/a
32	chr12:123874243-123874293	IMR90	lung:	fetal
33	chr12:123874243-123874293	GM12891	blood:	n/a
34	chr12:123874243-123874293	AG10803	skin:	n/a
35	chr12:123874243-123874293	H1-hESC	embryonic stem cell:	embryo
36	chr12:123874243-123874293	AG09319	gingival:	n/a
37	chr12:123874243-123874293	SAEC	small airway:	n/a
38	chr12:123874243-123874293	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:123874243-123874293	CMK	blood:	n/a
40	chr12:123874243-123874293	BJ	skin:	n/a
41	chr12:123874243-123874293	HepG2	liver:	n/a
42	chr12:123874243-123874293	HRPEpiC	eye:	n/a
43	chr12:123874243-123874293	A549	lung:	n/a
44	chr12:123874243-123874293	SK-N-SH_RA	brain:	n/a
45	chr12:123874243-123874293	HIPEpiC	eye:	n/a
46	chr12:123874243-123874293	NHBE	bronchial:	n/a
47	chr12:123874243-123874293	HRCEpiC	kidney:	n/a
48	chr12:123874243-123874293	HEK293	kidney:	embryo
49	chr12:123874243-123874293	Hela-S3	cervix:	n/a
50	chr12:123874243-123874293	K562	blood:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123873719..123876506-chr12:124067448..124069174,2	K562	blood:
2	chr12:123845591..123852236-chr12:123866929..123875043,19	MCF-7	breast:
3	chr12:123715746..123718967-chr12:123870796..123875270,4	K562	blood:
4	chr12:123754082..123756520-chr12:123873506..123875645,3	K562	blood:
5	chr12:123872355..123875545-chr12:123919640..123922793,3	MCF-7	breast:
6	chr12:123872223..123875553-chr12:124085591..124088201,3	MCF-7	breast:
7	chr12:123845329..123854937-chr12:123865496..123876607,58	K562	blood:
8	chr12:123872765..123874584-chr2:91935567..91938569,3	MCF-7	breast:
9	chr12:123871385..123875741-chr12:124017374..124019532,6	MCF-7	breast:
10	chr12:123753478..123757222-chr12:123871925..123875006,5	K562	blood:
11	chr12:123872778..123876196-chr12:124065295..124071344,6	MCF-7	breast:
12	chr12:123873193..123874940-chr12:123942406..123944140,2	K562	blood:
13	chr12:123753349..123756927-chr12:123873006..123875020,4	MCF-7	breast:
14	chr12:123873866..123876385-chr12:123942538..123944226,2	MCF-7	breast:
15	chr12:123753572..123756952-chr12:123872035..123874712,3	MCF-7	breast:
16	chr12:123872784..123874602-chr17:59484787..59486930,2	MCF-7	breast:
17	chr12:123870366..123875219-chr12:124064500..124069174,6	K562	blood:
18	chr12:123872056..123874942-chr12:124085224..124088307,3	MCF-7	breast:
19	chr12:123872416..123876102-chr12:124017252..124019601,4	MCF-7	breast:

No data

Variant related genes	Relation type
SETD8	TF binding region
SETD8	CpG island
ENSG00000111328	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000232531	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000150977	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS 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	48 gene(s)	inside rSNPs	diseases
4	nsv899579	chr12:123843017-123901480	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv826534	chr12:123859610-123876354	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv3398876	chr12:123872199-123875147	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv3439140	chr12:123872224-123874772	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv3388007	chr12:123872699-123875347	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	esv3407082	chr12:123872824-123875372	Genic enhancers Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	esv3437337	chr12:123872949-123874547	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv7028	chr12:123874023-123879670	Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123872800-123874400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:123872800-123874400	Active TSS	Fetal Brain Female	brain
3	chr12:123872800-123874800	Active TSS	Right Atrium	heart
4	chr12:123872800-123875000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr12:123872800-123875000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:123873000-123874400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:123873000-123874400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:123873000-123874400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:123873000-123874400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:123873000-123874400	Active TSS	Brain Germinal Matrix	brain
11	chr12:123873000-123874400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr12:123873000-123874400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr12:123873000-123874400	Active TSS	Fetal Stomach	stomach
14	chr12:123873000-123874600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr12:123873000-123874600	Active TSS	Brain Angular Gyrus	brain
16	chr12:123873000-123874600	Weak transcription	Fetal Heart	heart
17	chr12:123873000-123874600	Active TSS	Psoas Muscle	Psoas
18	chr12:123873000-123874600	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr12:123873000-123874600	Active TSS	Rectal Smooth Muscle	rectum
20	chr12:123873000-123874600	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr12:123873000-123874600	Active TSS	A549	lung
22	chr12:123873000-123874600	Active TSS	HepG2	liver
23	chr12:123873000-123874800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:123873000-123874800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:123873000-123874800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr12:123873000-123874800	Active TSS	Osteobl	bone
27	chr12:123873000-123875000	Active TSS	Brain Hippocampus Middle	brain
28	chr12:123873000-123875000	Active TSS	Gastric	stomach
29	chr12:123873000-123875000	Active TSS	Lung	lung
30	chr12:123873000-123875000	Active TSS	Small Intestine	intestine
31	chr12:123873000-123875000	Active TSS	HSMM	muscle
32	chr12:123873000-123875200	Active TSS	Left Ventricle	heart
33	chr12:123873000-123875200	Active TSS	HSMMtube	muscle
34	chr12:123873000-123875400	Active TSS	Esophagus	oesophagus
35	chr12:123873200-123874400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr12:123873200-123874400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:123873200-123874400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:123873200-123874400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:123873200-123874400	Active TSS	Adipose Nuclei	Adipose
40	chr12:123873200-123874400	Active TSS	Colonic Mucosa	Colon
41	chr12:123873200-123874400	Weak transcription	Fetal Brain Male	brain
42	chr12:123873200-123874400	Active TSS	Fetal Muscle Leg	muscle
43	chr12:123873200-123874400	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr12:123873200-123874400	Active TSS	Stomach Smooth Muscle	stomach
45	chr12:123873200-123874400	Active TSS	Dnd41	blood
46	chr12:123873200-123874600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
47	chr12:123873200-123874600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:123873200-123874600	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr12:123873200-123874600	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr12:123873200-123874600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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