Variant report

Variant	rs12063119
Chromosome Location	chr1:151735274-151735275
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151735154-151736379	ProgFib	skin:	n/a	n/a
2	YY1	chr1:151735163-151736566	SK-N-SH	brain:	n/a	chr1:151735947-151735959
3	MAX	chr1:151735267-151736267	NB4	blood:	n/a	n/a
4	REST	chr1:151735052-151736534	H1-neurons	neurons:	n/a	n/a
5	MAX	chr1:151735210-151736453	MCF-7	breast:	n/a	n/a
6	ELF1	chr1:151735093-151736499	MCF-7	breast:	n/a	n/a
7	GABPA	chr1:151735169-151736643	MCF-7	breast:	n/a	n/a
8	SRF	chr1:151735128-151736698	MCF-7	breast:	n/a	n/a
9	MAX	chr1:151735207-151736329	A549	lung:	n/a	n/a
10	TAF1	chr1:151735267-151736319	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:151735100-151736643	H1-hESC	embryonic stem cell:	n/a	n/a
12	EGR1	chr1:151735072-151736868	MCF-7	breast:	n/a	chr1:151735711-151735721
13	SIN3AK20	chr1:151735109-151736677	MCF-7	breast:	n/a	n/a
14	ELF1	chr1:151735231-151736375	MCF-7	breast:	n/a	n/a
15	POLR2A	chr1:151735269-151736347	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr1:151735258-151736351	Hela-S3	cervix:	n/a	n/a
17	MXI1	chr1:151734675-151737205	SK-N-SH	brain:	n/a	n/a
18	MAZ	chr1:151735166-151736456	IMR90	lung:	n/a	n/a
19	HCFC1	chr1:151734830-151736923	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:151299097..151300902-chr1:151735248..151736836,2	MCF-7	breast:
2	chr1:151734278..151737585-chr1:151760529..151764689,8	MCF-7	breast:
3	chr1:151733895..151739384-chr1:151759968..151766425,14	MCF-7	breast:
4	chr1:151735081..151737738-chr1:151803314..151806226,2	MCF-7	breast:
5	chr1:151735134..151736025-chr11:62608970..62609619,2	Hela-S3	cervix:
6	chr1:151505137..151506886-chr1:151734570..151737122,2	K562	blood:
7	chr1:151431438..151433634-chr1:151734265..151736700,2	K562	blood:
8	chr1:151734307..151737224-chr1:151809345..151813879,7	MCF-7	breast:
9	chr1:151717511..151721266-chr1:151734435..151738153,6	MCF-7	breast:
10	chr1:151225781..151228745-chr1:151734591..151737226,2	K562	blood:
11	chr1:151731676..151737592-chr1:151803957..151806544,6	MCF-7	breast:
12	chr1:151734439..151736812-chr1:152018817..152020911,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232937	TF binding region
OAZ3	TF binding region
MRPL9	TF binding region
ENSG00000143393	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000206980	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000225556	Chromatin interaction

rs_ID	r²[population]
rs12058488	0.89[AFR][1000 genomes]
rs12067532	0.89[AFR][1000 genomes]
rs12069263	0.81[AFR][1000 genomes]
rs12071974	0.87[AFR][1000 genomes]
rs12097746	0.85[AFR][1000 genomes]
rs7522224	0.96[AFR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151727400-151735400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:151734400-151735400	Weak transcription	Gastric	stomach
3	chr1:151734600-151735400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:151734600-151735400	Weak transcription	Aorta	Aorta
5	chr1:151734600-151735400	Weak transcription	Esophagus	oesophagus
6	chr1:151734600-151735400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:151734600-151735600	Weak transcription	Spleen	Spleen
8	chr1:151734800-151735400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:151734800-151735400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:151734800-151735400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr1:151734800-151735400	Flanking Active TSS	GM12878-XiMat	blood
12	chr1:151734800-151735400	Flanking Active TSS	NHEK	skin
13	chr1:151734800-151735600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:151734800-151735600	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr1:151734800-151735600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:151734800-151736200	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr1:151734800-151736800	Active TSS	H1 Cell Line	embryonic stem cell
18	chr1:151735000-151735400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:151735000-151735400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:151735000-151735400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr1:151735000-151735400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:151735000-151735400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr1:151735000-151735400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:151735000-151735400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr1:151735000-151735400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:151735000-151735400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:151735000-151735400	Flanking Active TSS	Fetal Brain Female	brain
28	chr1:151735000-151735400	Enhancers	Fetal Heart	heart
29	chr1:151735000-151735400	Flanking Active TSS	Fetal Stomach	stomach
30	chr1:151735000-151735400	Flanking Active TSS	Fetal Thymus	thymus
31	chr1:151735000-151735400	Flanking Active TSS	A549	lung
32	chr1:151735000-151735400	Flanking Active TSS	Dnd41	blood
33	chr1:151735000-151735400	Flanking Active TSS	Hela-S3	cervix
34	chr1:151735000-151735400	Flanking Active TSS	HMEC	breast
35	chr1:151735000-151735400	Flanking Active TSS	HUVEC	blood vessel
36	chr1:151735000-151735400	Flanking Active TSS	K562	blood
37	chr1:151735000-151735600	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr1:151735000-151735600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr1:151735000-151735600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:151735000-151735600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr1:151735000-151735600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:151735000-151735600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:151735000-151735600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:151735000-151735600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr1:151735000-151735600	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr1:151735000-151735600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr1:151735000-151735600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr1:151735000-151735600	Flanking Active TSS	NH-A	brain
49	chr1:151735000-151736400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:151735000-151736400	Active TSS	Brain Anterior Caudate	brain

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