Variant report

Variant	rs8012229
Chromosome Location	chr14:64911562-64911563
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:64910164-64912055	A549	lung:	n/a	n/a
2	POLR2A	chr14:64910908-64911644	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:64911118-64912646	GM12892	blood:	n/a	n/a
4	POLR2A	chr14:64911167-64912710	GM12891	blood:	n/a	n/a
5	POLR2A	chr14:64910284-64912596	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr14:64910821-64912695	GM12878	blood:	n/a	n/a
7	NFIC	chr14:64911431-64912838	GM12878	blood:	n/a	n/a
8	STAT5A	chr14:64911339-64912640	GM12878	blood:	n/a	chr14:64911393-64911404
9	POLR2A	chr14:64911093-64912654	GM12878	blood:	n/a	n/a
10	EP300	chr14:64911389-64913323	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr14:64911353-64912568	GM12892	blood:	n/a	n/a
12	POLR2A	chr14:64910787-64912739	GM12878	blood:	n/a	n/a
13	POLR2A	chr14:64911084-64912710	GM12878	blood:	n/a	n/a
14	MTA3	chr14:64910956-64912746	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:64911347-64912711	U87	brain:	n/a	n/a
16	RELA	chr14:64911468-64912673	GM12891	blood:	n/a	n/a
17	POLR2A	chr14:64910983-64912721	K562	blood:	n/a	n/a
18	FOXM1	chr14:64911518-64912680	GM12878	blood:	n/a	n/a
19	POLR2A	chr14:64911509-64912644	GM12891	blood:	n/a	n/a
20	PML	chr14:64911383-64912797	GM12878	blood:	n/a	n/a
21	CREB1	chr14:64911430-64912677	GM12878	blood:	n/a	n/a
22	POLR2A	chr14:64911396-64912011	GM12891	blood:	n/a	n/a
23	POLR2A	chr14:64910829-64912733	GM12892	blood:	n/a	n/a
24	POLR2A	chr14:64911108-64912652	GM12892	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64910448..64911970-chr14:64919043..64921464,2	K562	blood:
2	chr14:64910110..64912400-chr14:64914683..64917488,3	K562	blood:
3	chr14:64910408..64912288-chr14:64970416..64972227,2	MCF-7	breast:
4	chr14:64910429..64912207-chr14:64923719..64925458,2	K562	blood:
5	chr14:64910448..64913104-chr14:64918175..64920543,2	K562	blood:

No data

Variant related genes	Relation type
MTHFD1	TF binding region
ENSG00000272909	TF binding region
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000100714	Chromatin interaction
ENSG00000258824	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10891	0.95[EUR][1000 genomes]
rs11620680	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11621195	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11621442	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11622028	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11622591	0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11624854	0.81[EUR][1000 genomes]
rs11627525	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11627602	0.80[AMR][1000 genomes]
rs11628440	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11628524	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11629135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11629354	0.84[ASN][1000 genomes]
rs1885031	0.85[CEU][hapmap]
rs2123456	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2123457	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2236222	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3742609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3818239	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs45511097	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55766182	1.00[AFR][1000 genomes]
rs55791907	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56007903	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56403644	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs58644746	0.95[EUR][1000 genomes]
rs59587911	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7146831	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74056329	0.81[EUR][1000 genomes]
rs74056445	0.98[EUR][1000 genomes]
rs8003567	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64856000-64913000	Weak transcription	Small Intestine	intestine
2	chr14:64856200-64931200	Weak transcription	Stomach Mucosa	stomach
3	chr14:64861800-64931600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:64867200-64927000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:64867200-64929600	Strong transcription	Dnd41	blood
6	chr14:64874000-64928400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:64875400-64912000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:64875400-64913200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:64876400-64911800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr14:64877000-64927000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:64877000-64929400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:64877400-64928200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:64877800-64929200	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr14:64878200-64921200	Strong transcription	Liver	Liver
15	chr14:64878600-64912200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr14:64878800-64912000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:64881600-64912600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr14:64881600-64929000	Strong transcription	Fetal Thymus	thymus
19	chr14:64888000-64923000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:64888400-64920400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:64888800-64913200	Strong transcription	Hela-S3	cervix
22	chr14:64891200-64928600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:64891600-64911800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:64892400-64912000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:64897200-64911600	Strong transcription	Primary T cells from cord blood	blood
26	chr14:64897200-64912800	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr14:64897400-64912000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr14:64897400-64912600	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr14:64897600-64911800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr14:64898600-64916000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:64900400-64931800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr14:64900600-64912000	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr14:64900800-64911600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:64902400-64911600	Strong transcription	Primary hematopoietic stem cells	blood
35	chr14:64903800-64912000	Strong transcription	Fetal Brain Female	brain
36	chr14:64904200-64911800	Strong transcription	Fetal Stomach	stomach
37	chr14:64904200-64912200	Strong transcription	HepG2	liver
38	chr14:64905000-64912000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr14:64905200-64920200	Weak transcription	Psoas Muscle	Psoas
40	chr14:64905800-64911800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:64905800-64912000	Strong transcription	Adipose Nuclei	Adipose
42	chr14:64905800-64917000	Strong transcription	NHEK	skin
43	chr14:64905800-64931400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr14:64906000-64911600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:64906200-64911800	Strong transcription	A549	lung
46	chr14:64906200-64912800	Strong transcription	Fetal Intestine Small	intestine
47	chr14:64906400-64912000	Strong transcription	Fetal Intestine Large	intestine
48	chr14:64906800-64911600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:64906800-64911600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:64907000-64912200	Strong transcription	Brain Anterior Caudate	brain

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