Variant report

Variant	rs12078344
Chromosome Location	chr1:94345590-94345591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:94343975-94345608	K562	blood:	n/a	n/a
2	POLR2A	chr1:94344153-94345721	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr1:94344000-94345721	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:94344078-94345860	SK-N-MC	brain:	n/a	n/a
5	BCL3	chr1:94343887-94345861	A549	lung:	n/a	n/a
6	POLR2A	chr1:94345578-94345607	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr1:94344382-94345610	A549	lung:	n/a	n/a
8	POLR2A	chr1:94344025-94345752	GM12891	blood:	n/a	n/a
9	POLR2A	chr1:94344157-94346337	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:94345383-94345864	PFSK-1	brain:	n/a	n/a
11	HCFC1	chr1:94343782-94345845	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:94344028-94345736	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:94343867-94345668	K562	blood:	n/a	n/a
14	MXI1	chr1:94343607-94345758	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr1:94343911-94345636	IMR90	lung:	n/a	n/a
16	BCL3	chr1:94345311-94345824	A549	lung:	n/a	n/a
17	POLR2A	chr1:94343945-94345667	HepG2	liver:	n/a	n/a
18	POLR2A	chr1:94345497-94345673	K562	blood:	n/a	n/a
19	POLR2A	chr1:94343685-94350802	A549	lung:	n/a	n/a
20	POLR2A	chr1:94344063-94345687	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr1:94344399-94345803	SK-N-SH	brain:	n/a	n/a
22	REST	chr1:94344096-94345671	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr1:94344319-94345628	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr1:94343810-94352873	K562	blood:	n/a	n/a
25	POLR2A	chr1:94343890-94345740	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:94343980-94345641	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94336837..94340766-chr1:94341847..94346212,6	K562	blood:
2	chr1:94343199..94347658-chr1:94372955..94376562,9	MCF-7	breast:
3	chr1:94337347..94339597-chr1:94344098..94346567,2	MCF-7	breast:
4	chr1:94344690..94346304-chr1:94373768..94376372,3	MCF-7	breast:
5	chr1:94311992..94315197-chr1:94341852..94346150,3	MCF-7	breast:
6	chr1:94344173..94346291-chr1:94372636..94375124,3	K562	blood:
7	chr1:94342014..94348814-chr1:94369991..94376733,14	K562	blood:
8	chr1:94310839..94314732-chr1:94343365..94346802,6	MCF-7	breast:
9	chr1:94310214..94315053-chr1:94342432..94346579,12	K562	blood:

No data

Variant related genes	Relation type
DNTTIP2	TF binding region
ENSG00000137936	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000023909	Chromatin interaction
ENSG00000260464	Chromatin interaction

rs_ID	r²[population]
rs10489606	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11165033	0.87[AMR][1000 genomes]
rs12065890	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12068148	0.87[AMR][1000 genomes]
rs12068954	1.00[AMR][1000 genomes]
rs17110613	0.89[AMR][1000 genomes]
rs17878538	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35650636	1.00[AMR][1000 genomes]
rs56324350	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59101071	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60680584	0.89[AMR][1000 genomes]
rs61564641	0.89[AMR][1000 genomes]
rs6677068	1.00[AMR][1000 genomes]
rs7541690	1.00[AMR][1000 genomes]
rs7543184	0.89[AMR][1000 genomes]
rs7544121	0.89[AMR][1000 genomes]
rs7548581	1.00[AMR][1000 genomes]

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94342800-94345800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:94343400-94345600	Active TSS	Psoas Muscle	Psoas
3	chr1:94343400-94345800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:94343400-94345800	Active TSS	A549	lung
5	chr1:94343600-94345600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:94343600-94345600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:94343800-94345600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr1:94343800-94345600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:94343800-94345600	Active TSS	Brain Angular Gyrus	brain
10	chr1:94343800-94345600	Active TSS	Fetal Intestine Large	intestine
11	chr1:94343800-94345600	Active TSS	Fetal Kidney	kidney
12	chr1:94343800-94345600	Active TSS	Right Atrium	heart
13	chr1:94343800-94345600	Active TSS	Stomach Smooth Muscle	stomach
14	chr1:94343800-94345600	Active TSS	GM12878-XiMat	blood
15	chr1:94343800-94345600	Active TSS	HMEC	breast
16	chr1:94343800-94345800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:94343800-94345800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:94344000-94345600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr1:94344000-94345600	Active TSS	Stomach Mucosa	stomach
20	chr1:94344200-94345600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:94344200-94345600	Active TSS	Adipose Nuclei	Adipose
22	chr1:94344200-94345600	Active TSS	Brain Germinal Matrix	brain
23	chr1:94344200-94345600	Active TSS	Fetal Lung	lung
24	chr1:94344200-94345600	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr1:94344200-94345600	Active TSS	NH-A	brain
26	chr1:94344400-94345800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:94344400-94345800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:94344800-94345600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:94345000-94345600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr1:94345000-94345600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr1:94345000-94345600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr1:94345000-94345600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr1:94345000-94345600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr1:94345000-94345600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:94345000-94345600	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr1:94345000-94357000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:94345000-94374200	Weak transcription	Gastric	stomach
38	chr1:94345000-94374200	Weak transcription	Spleen	Spleen
39	chr1:94345200-94345600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr1:94345200-94345600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr1:94345200-94345600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr1:94345200-94345600	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr1:94345200-94345600	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr1:94345200-94345600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:94345200-94345600	Flanking Active TSS	Fetal Brain Female	brain
46	chr1:94345200-94345600	Flanking Active TSS	Fetal Heart	heart
47	chr1:94345200-94345600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr1:94345200-94345600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr1:94345200-94345600	Flanking Active TSS	HepG2	liver
50	chr1:94345200-94345600	Flanking Active TSS	NHEK	skin

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