Variant report

Variant	rs12322142
Chromosome Location	chr12:120875775-120875776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:399)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr12:120875492-120876226	K562	blood:	n/a	n/a
2	POLR2A	chr12:120875338-120876317	U87	brain:	n/a	n/a
3	MAX	chr12:120875439-120876060	A549	lung:	n/a	n/a
4	POLR2A	chr12:120875410-120876251	H1-neurons	neurons:	n/a	n/a
5	SRF	chr12:120875500-120876207	MCF-7	breast:	n/a	n/a
6	SIX5	chr12:120875238-120875995	A549	lung:	n/a	n/a
7	POLR2A	chr12:120875360-120876073	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr12:120875516-120875920	K562	blood:	n/a	n/a
9	CHD1	chr12:120875284-120876076	GM12878	blood:	n/a	n/a
10	NFYB	chr12:120875624-120875970	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:120875379-120876130	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:120875347-120876366	GM12878	blood:	n/a	n/a
13	FOS	chr12:120875676-120875868	MCF10A-Er-Src	breast:	n/a	chr12:120875847-120875856
14	POLR2A	chr12:120875399-120876296	K562	blood:	n/a	n/a
15	TBP	chr12:120875455-120876072	GM12878	blood:	n/a	n/a
16	SRF	chr12:120875722-120876076	GM12878	blood:	n/a	n/a
17	MAX	chr12:120875441-120876060	Hela-S3	cervix:	n/a	n/a
18	GTF2B	chr12:120875525-120875969	K562	blood:	n/a	n/a
19	POLR2A	chr12:120875328-120876181	HCT-116	colon:	n/a	n/a
20	TEAD4	chr12:120875235-120876163	K562	blood:	n/a	n/a
21	MYC	chr12:120875499-120876184	K562	blood:	n/a	n/a
22	EGR1	chr12:120875654-120876069	K562	blood:	n/a	chr12:120875742-120875751 chr12:120875696-120875705 chr12:120875892-120875901
23	EP300	chr12:120875713-120876044	GM12878	blood:	n/a	chr12:120875889-120875903
24	SIN3AK20	chr12:120875162-120876520	MCF-7	breast:	n/a	n/a
25	POLR2A	chr12:120875451-120876262	Gliobla	brain:	n/a	n/a
26	TCF12	chr12:120875474-120876286	ECC-1	luminal epithelium:	n/a	n/a
27	MAFK	chr12:120875515-120875784	HepG2	liver:	n/a	n/a
28	HCFC1	chr12:120875383-120876115	K562	blood:	n/a	n/a
29	RFX5	chr12:120875320-120876087	Hela-S3	cervix:	n/a	chr12:120875613-120875628
30	POLR2A	chr12:120875362-120876544	HepG2	liver:	n/a	n/a
31	REST	chr12:120875163-120876157	A549	lung:	n/a	n/a
32	SRF	chr12:120875646-120876070	GM12878	blood:	n/a	n/a
33	RCOR1	chr12:120875459-120876091	Hela-S3	cervix:	n/a	n/a
34	ELF1	chr12:120875245-120876216	MCF-7	breast:	n/a	chr12:120875893-120875902 chr12:120875898-120875907
35	USF1	chr12:120875371-120875903	A549	lung:	n/a	n/a
36	PML	chr12:120875419-120876154	K562	blood:	n/a	n/a
37	SRF	chr12:120875515-120876155	ECC-1	luminal epithelium:	n/a	n/a
38	GABPA	chr12:120875551-120876333	HepG2	liver:	n/a	chr12:120875695-120875709 chr12:120875695-120875706 chr12:120875895-120875902 chr12:120875697-120875706
39	MYBL2	chr12:120875324-120876157	HepG2	liver:	n/a	n/a
40	POLR2A	chr12:120875413-120876243	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr12:120875437-120876192	A549	lung:	n/a	n/a
42	POLR2A	chr12:120875449-120876138	GM10847	blood:	n/a	n/a
43	NFYB	chr12:120875650-120875979	GM12878	blood:	n/a	n/a
44	MAX	chr12:120875416-120875990	H1-hESC	embryonic stem cell:	n/a	n/a
45	SIN3AK20	chr12:120875750-120876118	A549	lung:	n/a	n/a
46	GABPA	chr12:120875652-120876163	H1-hESC	embryonic stem cell:	n/a	chr12:120875695-120875709 chr12:120875695-120875706 chr12:120875895-120875902 chr12:120875697-120875706
47	CHD2	chr12:120875513-120876047	Hela-S3	cervix:	n/a	n/a
48	ATF2	chr12:120875484-120875968	H1-hESC	embryonic stem cell:	n/a	n/a
49	FOS	chr12:120875727-120875923	MCF10A-Er-Src	breast:	n/a	chr12:120875847-120875856
50	FOXA1	chr12:120875546-120875981	T-47D	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120875743-120875793	ProgFib	skin:	n/a
2	chr12:120875743-120875793	PrEC	prostate:	n/a
3	chr12:120875743-120875793	SKMC	muscle:	n/a
4	chr12:120875743-120875793	HCPEpiC	choroid plexus:	n/a
5	chr12:120875743-120875793	HepG2	liver:	n/a
6	chr12:120875743-120875793	HEK293	kidney:	embryo
7	chr12:120875743-120875793	HRE	kidney:	n/a
8	chr12:120875743-120875793	MCF-7	breast:	n/a
9	chr12:120875743-120875793	HMEC	breast:	n/a
10	chr12:120875743-120875793	AG09319	gingival:	n/a
11	chr12:120875743-120875793	HAEpiC	amniotic membrane:	n/a
12	chr12:120875743-120875793	NB4	blood:	n/a
13	chr12:120875743-120875793	AG04450	lung:	fetal
14	chr12:120875743-120875793	HRCEpiC	kidney:	n/a
15	chr12:120875743-120875793	SK-N-MC	brain:	n/a
16	chr12:120875743-120875793	HNPCEpiC	eye:	n/a
17	chr12:120875743-120875793	T-47D	breast:	n/a
18	chr12:120875743-120875793	K562	blood:	n/a
19	chr12:120875743-120875793	NHBE	bronchial:	n/a
20	chr12:120875743-120875793	Hepatocyte	liver:	n/a
21	chr12:120875743-120875793	U87	brain:	n/a
22	chr12:120875743-120875793	ECC-1	luminal epithelium:	n/a
23	chr12:120875743-120875793	CMK	blood:	n/a
24	chr12:120875743-120875793	NT2-D1	testis:	n/a
25	chr12:120875743-120875793	GM06990	blood:	n/a
26	chr12:120875743-120875793	IMR90	lung:	fetal
27	chr12:120875743-120875793	PANC-1	pancreas:	n/a
28	chr12:120875743-120875793	AoSMC	blood vessel:	n/a
29	chr12:120875743-120875793	H1-hESC	embryonic stem cell:	embryo
30	chr12:120875743-120875793	AG10803	skin:	n/a
31	chr12:120875743-120875793	SK-N-SH	brain:	n/a
32	chr12:120875743-120875793	HUVEC	blood vessel:	n/a
33	chr12:120875743-120875793	RPTEC	kidney:	n/a
34	chr12:120875743-120875793	AG04449	skin:	fetal
35	chr12:120875743-120875793	Jurkat	blood:	n/a
36	chr12:120875743-120875793	PFSK-1	brain:	n/a
37	chr12:120875743-120875793	SK-N-SH_RA	brain:	n/a
38	chr12:120875743-120875793	Caco-2	colon:	n/a
39	chr12:120875743-120875793	NHDF-neo	bronchial:	n/a
40	chr12:120875743-120875793	GM12878	blood:	n/a
41	chr12:120875743-120875793	NH-A	brain:	n/a
42	chr12:120875743-120875793	HL-60	blood:	n/a
43	chr12:120875743-120875793	HIPEpiC	eye:	n/a
44	chr12:120875743-120875793	HPAEpiC	pulmonary alveolar:	n/a
45	chr12:120875743-120875793	HCT-116	colon:	n/a
46	chr12:120875743-120875793	HEEpiC	esophagus:	n/a
47	chr12:120875743-120875793	LNCaP	prostate:	n/a
48	chr12:120875743-120875793	BJ	skin:	n/a
49	chr12:120875743-120875793	HCF	heart:	n/a
50	chr12:120875743-120875793	Hela-S3	cervix:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120728080..120732301-chr12:120874297..120877936,6	K562	blood:
2	chr12:120875699..120878976-chr12:120901336..120905207,3	MCF-7	breast:
3	chr12:120728565..120730817-chr12:120874965..120877227,3	MCF-7	breast:
4	chr12:120638719..120641136-chr12:120874234..120877493,3	K562	blood:
5	chr12:120763843..120766324-chr12:120875587..120877145,2	MCF-7	breast:
6	chr12:120874293..120875832-chr12:120907401..120908923,2	K562	blood:
7	chr12:120727155..120732265-chr12:120871900..120878042,6	MCF-7	breast:
8	chr12:120875603..120876328-chr3:4534883..4535517,2	NB4	blood:
9	chr12:120874999..120877444-chr12:120972685..120975166,2	K562	blood:
10	chr12:120728477..120731826-chr12:120874371..120876435,3	K562	blood:
11	chr12:120874293..120878054-chr12:120905643..120908923,7	K562	blood:
12	chr12:120638809..120640383-chr12:120873951..120876140,2	K562	blood:
13	chr12:120875699..120878054-chr12:120933967..120936016,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111780	TF binding region
COX6A1	TF binding region
ENSG00000111780	CpG island
COX6A1	CpG island
ENSG00000170890	Chromatin interaction
ENSG00000150995	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000089157	Chromatin interaction

rs_ID	r²[population]
rs3901251	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs61945886	0.81[AMR][1000 genomes]

SNP	Gene	Cis/trans	Tissue	Source
rs12322142	POP5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120875200-120875800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
2	chr12:120875200-120875800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr12:120875200-120875800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr12:120875200-120875800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr12:120875200-120875800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:120875200-120875800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:120875200-120875800	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr12:120875200-120875800	Flanking Active TSS	Fetal Brain Male	brain
9	chr12:120875200-120875800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr12:120875200-120875800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:120875200-120876000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:120875200-120876000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:120875200-120876200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:120875200-120876400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr12:120875200-120876400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:120875200-120876400	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr12:120875200-120876400	Active TSS	Muscle Satellite Cultured Cells	--
18	chr12:120875200-120876400	Active TSS	Brain Anterior Caudate	brain
19	chr12:120875200-120876400	Active TSS	Brain Cingulate Gyrus	brain
20	chr12:120875200-120876400	Active TSS	Brain Germinal Matrix	brain
21	chr12:120875200-120876400	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr12:120875200-120876400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:120875200-120876400	Active TSS	Brain Substantia Nigra	brain
24	chr12:120875200-120876400	Active TSS	Colon Smooth Muscle	Colon
25	chr12:120875200-120876400	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr12:120875200-120876400	Active TSS	Fetal Kidney	kidney
27	chr12:120875200-120876400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr12:120875200-120876400	Active TSS	Fetal Lung	lung
29	chr12:120875200-120876400	Active TSS	Stomach Smooth Muscle	stomach
30	chr12:120875200-120876400	Active TSS	HSMMtube	muscle
31	chr12:120875200-120876600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:120875200-120876600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:120875200-120876600	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr12:120875200-120876600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:120875200-120876600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:120875200-120876600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:120875200-120876600	Active TSS	Brain Hippocampus Middle	brain
38	chr12:120875200-120876600	Active TSS	Colonic Mucosa	Colon
39	chr12:120875200-120876600	Active TSS	Fetal Intestine Small	intestine
40	chr12:120875200-120876600	Active TSS	Fetal Muscle Trunk	muscle
41	chr12:120875200-120876600	Active TSS	Fetal Muscle Leg	muscle
42	chr12:120875200-120876600	Active TSS	A549	lung
43	chr12:120875200-120876600	Active TSS	NHDF-Ad	bronchial
44	chr12:120875200-120876800	Active TSS	H1 Cell Line	embryonic stem cell
45	chr12:120875200-120876800	Active TSS	H9 Cell Line	embryonic stem cell
46	chr12:120875200-120876800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:120875200-120876800	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr12:120875200-120876800	Active TSS	Fetal Brain Female	brain
49	chr12:120875200-120876800	Active TSS	Fetal Heart	heart
50	chr12:120875200-120876800	Active TSS	Rectal Mucosa Donor 29	rectum

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