Variant report

Variant	rs542147773
Chromosome Location	chr12:124456174-124456175
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:124456091-124456768	H1-neurons	neurons:	n/a	n/a
2	MAZ	chr12:124455899-124458832	IMR90	lung:	n/a	chr12:124457562-124457572 chr12:124457558-124457568 chr12:124457947-124457957 chr12:124457536-124457545 chr12:124457385-124457395
3	POLR2A	chr12:124456052-124456607	H1-neurons	neurons:	n/a	n/a
4	IRF1	chr12:124456089-124456459	K562	blood:	n/a	n/a
5	STAT3	chr12:124456063-124456565	MCF10A-Er-Src	breast:	n/a	n/a
6	MXI1	chr12:124455887-124459788	SK-N-SH	brain:	n/a	n/a
7	TAF1	chr12:124456137-124456681	H1-neurons	neurons:	n/a	n/a
8	ZNF263	chr12:124456125-124456660	HEK293-T-REx	kidney:	n/a	chr12:124456545-124456554
9	REST	chr12:124455987-124459250	H1-neurons	neurons:	n/a	chr12:124458758-124458766 chr12:124458339-124458352 chr12:124457841-124457854 chr12:124456713-124456733 chr12:124458582-124458591 chr12:124457610-124457620
10	MAFK	chr12:124456132-124456413	HepG2	liver:	n/a	n/a
11	STAT3	chr12:124455995-124456529	MCF10A-Er-Src	breast:	n/a	n/a
12	MAFK	chr12:124455840-124456417	IMR90	lung:	n/a	n/a
13	CTCF	chr12:124456160-124456310	A549	lung:	n/a	n/a
14	MYBL2	chr12:124456114-124456682	HepG2	liver:	n/a	n/a
15	MXI1	chr12:124455833-124459062	IMR90	lung:	n/a	n/a
16	CUX1	chr12:124456150-124456219	GM12878	blood:	n/a	n/a
17	STAT3	chr12:124456133-124456386	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:124456164-124456214	PANC-1	pancreas:	n/a
2	chr12:124456164-124456214	MCF-7	breast:	n/a
3	chr12:124456164-124456214	PFSK-1	brain:	n/a
4	chr12:124456164-124456214	AG04449	skin:	fetal
5	chr12:124456164-124456214	HUVEC	blood vessel:	n/a
6	chr12:124456164-124456214	GM12891	blood:	n/a
7	chr12:124456164-124456214	HCF	heart:	n/a
8	chr12:124456164-124456214	BE2_C	brain:	n/a
9	chr12:124456164-124456214	T-47D	breast:	n/a
10	chr12:124456164-124456214	HCM	heart:	n/a
11	chr12:124456164-124456214	LNCaP	prostate:	n/a
12	chr12:124456164-124456214	HEEpiC	esophagus:	n/a
13	chr12:124456164-124456214	NH-A	brain:	n/a
14	chr12:124456164-124456214	Caco-2	colon:	n/a
15	chr12:124456164-124456214	SAEC	small airway:	n/a
16	chr12:124456164-124456214	U87	brain:	n/a
17	chr12:124456164-124456214	HRPEpiC	eye:	n/a
18	chr12:124456164-124456214	HRE	kidney:	n/a
19	chr12:124456164-124456214	NB4	blood:	n/a
20	chr12:124456164-124456214	HCPEpiC	choroid plexus:	n/a
21	chr12:124456164-124456214	AG09319	gingival:	n/a
22	chr12:124456164-124456214	GM12878	blood:	n/a
23	chr12:124456164-124456214	HNPCEpiC	eye:	n/a
24	chr12:124456164-124456214	NHBE	bronchial:	n/a
25	chr12:124456164-124456214	CMK	blood:	n/a
26	chr12:124456164-124456214	NT2-D1	testis:	n/a
27	chr12:124456164-124456214	HepG2	liver:	n/a
28	chr12:124456164-124456214	H1-hESC	embryonic stem cell:	embryo
29	chr12:124456164-124456214	A549	lung:	n/a
30	chr12:124456164-124456214	GM06990	blood:	n/a
31	chr12:124456164-124456214	SK-N-SH_RA	brain:	n/a
32	chr12:124456164-124456214	GM19239	blood:	n/a
33	chr12:124456164-124456214	Jurkat	blood:	n/a
34	chr12:124456164-124456214	AG04450	lung:	fetal
35	chr12:124456164-124456214	SKMC	muscle:	n/a
36	chr12:124456164-124456214	IMR90	lung:	fetal
37	chr12:124456164-124456214	ECC-1	luminal epithelium:	n/a
38	chr12:124456164-124456214	PrEC	prostate:	n/a
39	chr12:124456164-124456214	HAEpiC	amniotic membrane:	n/a
40	chr12:124456164-124456214	BJ	skin:	n/a
41	chr12:124456164-124456214	HRCEpiC	kidney:	n/a
42	chr12:124456164-124456214	Hepatocyte	liver:	n/a
43	chr12:124456164-124456214	HL-60	blood:	n/a
44	chr12:124456164-124456214	RPTEC	kidney:	n/a
45	chr12:124456164-124456214	HPAEpiC	pulmonary alveolar:	n/a
46	chr12:124456164-124456214	HIPEpiC	eye:	n/a
47	chr12:124456164-124456214	AoSMC	blood vessel:	n/a
48	chr12:124456164-124456214	GM12892	blood:	n/a
49	chr12:124456164-124456214	AG09309	skin:	n/a
50	chr12:124456164-124456214	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:124117230..124119880-chr12:124454893..124459230,4	K562	blood:
2	chr12:58147914..58149817-chr12:124454309..124457254,2	MCF-7	breast:
3	chr12:124442245..124448648-chr12:124455013..124459797,7	K562	blood:
4	chr12:124389950..124393053-chr12:124455413..124457949,3	MCF-7	breast:
5	chr12:124450274..124453930-chr12:124454051..124458606,8	K562	blood:
6	chr12:124456109..124458010-chr17:60780590..60782745,2	MCF-7	breast:
7	chr12:124427289..124429927-chr12:124454570..124456176,2	K562	blood:
8	chr12:124419696..124421587-chr12:124455495..124458360,2	MCF-7	breast:
9	chr12:124450327..124455412-chr12:124455418..124460730,10	K562	blood:
10	chr12:124426853..124428789-chr12:124454676..124457058,3	K562	blood:
11	chr12:124195456..124198460-chr12:124455550..124458339,3	MCF-7	breast:
12	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAH10OS-8	chr12:124456004-124456261	ENSG00000270095.1

No data

Variant related genes	Relation type
ENSG00000269938	TF binding region
ZNF664	TF binding region
ENSG00000269997	TF binding region
FAM101A	TF binding region
ENSG00000270061	TF binding region
ENSG00000270061	CpG island
ENSG00000269997	CpG island
ENSG00000269938	CpG island
ZNF664	CpG island
FAM101A	CpG island
ENSG00000111358	Chromatin interaction
ENSG00000270048	Chromatin interaction
ENSG00000270061	Chromatin interaction
ENSG00000173838	Chromatin interaction
ENSG00000270130	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000269997	Chromatin interaction
ENSG00000197653	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000269938	Chromatin interaction
ENSG00000139266	Chromatin interaction
ENSG00000270005	Chromatin interaction
ENSG00000135446	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3404000	chr12:124455199-124459397	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv3437066	chr12:124455824-124458572	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124427200-124456200	Weak transcription	Esophagus	oesophagus
2	chr12:124430000-124456200	Weak transcription	Fetal Thymus	thymus
3	chr12:124430600-124456200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:124434400-124456200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:124435800-124456200	Weak transcription	Pancreas	Pancrea
6	chr12:124437000-124456200	Weak transcription	Gastric	stomach
7	chr12:124446400-124456200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:124448000-124456200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:124448000-124456200	Weak transcription	Lung	lung
10	chr12:124450400-124456200	Weak transcription	Ovary	ovary
11	chr12:124450600-124456200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:124451400-124456200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:124451800-124456200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:124454600-124457400	Active TSS	Right Atrium	heart
15	chr12:124454600-124459800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:124455000-124456400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:124455000-124458600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:124455200-124456200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:124455200-124456200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:124455200-124456200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr12:124455200-124456200	Weak transcription	Small Intestine	intestine
22	chr12:124455200-124459000	Active TSS	NHDF-Ad	bronchial
23	chr12:124455600-124456200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr12:124455600-124456200	Flanking Active TSS	Fetal Brain Male	brain
25	chr12:124455600-124456400	Active TSS	Fetal Brain Female	brain
26	chr12:124455600-124456800	Active TSS	Brain Germinal Matrix	brain
27	chr12:124455600-124458600	Active TSS	Osteobl	bone
28	chr12:124455600-124458800	Active TSS	HMEC	breast
29	chr12:124455600-124459000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:124455600-124459400	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr12:124455600-124459400	Active TSS	Fetal Intestine Large	intestine
32	chr12:124455800-124456200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
33	chr12:124455800-124456200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr12:124455800-124456200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:124455800-124456400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:124455800-124456400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:124455800-124456400	Flanking Active TSS	NHEK	skin
38	chr12:124455800-124456600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr12:124455800-124456600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:124455800-124456600	Flanking Active TSS	HUVEC	blood vessel
41	chr12:124455800-124456800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:124455800-124456800	Flanking Active TSS	Liver	Liver
43	chr12:124455800-124457000	Active TSS	Stomach Mucosa	stomach
44	chr12:124455800-124458600	Active TSS	Brain Anterior Caudate	brain
45	chr12:124455800-124458600	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr12:124455800-124458600	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr12:124455800-124458600	Active TSS	Stomach Smooth Muscle	stomach
48	chr12:124455800-124458800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:124455800-124458800	Active TSS	Brain Angular Gyrus	brain
50	chr12:124455800-124458800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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