Variant report

Variant	rs12051734
Chromosome Location	chr17:38494150-38494151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr17:38493914-38494811	HL-60	blood:	n/a	chr17:38494497-38494510 chr17:38494501-38494508 chr17:38494064-38494077 chr17:38494500-38494509 chr17:38494498-38494511 chr17:38494537-38494550
2	POLR2A	chr17:38494091-38494200	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr17:38493840-38494913	MCF-7	breast:	n/a	n/a
4	EP300	chr17:38493345-38494315	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38472788..38480698-chr17:38493295..38509406,39	K562	blood:

Variant related genes	Relation type
RARA	TF binding region
ENSG00000131759	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11078940	0.80[EUR][1000 genomes]
rs12103711	0.93[ASN][1000 genomes]
rs12946680	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13706	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16965687	0.82[EUR][1000 genomes]
rs1807273	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2077464	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2120200	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28537537	0.80[EUR][1000 genomes]
rs28663197	0.81[EUR][1000 genomes]
rs35286757	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36030243	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4134994	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs55656553	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57179137	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58822685	0.90[EUR][1000 genomes]
rs59406133	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60220138	0.89[EUR][1000 genomes]
rs7217852	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72836651	0.89[EUR][1000 genomes]
rs72836653	0.89[EUR][1000 genomes]
rs72836656	0.90[EUR][1000 genomes]
rs72836660	0.90[EUR][1000 genomes]
rs7359537	0.80[EUR][1000 genomes]
rs73983025	0.90[EUR][1000 genomes]
rs9303285	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9303286	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9892404	0.80[EUR][1000 genomes]
rs9893520	0.82[EUR][1000 genomes]
rs9894625	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9896312	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9897092	0.82[EUR][1000 genomes]
rs9904270	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9906409	0.82[EUR][1000 genomes]
rs9908257	0.90[EUR][1000 genomes]
rs9914531	0.89[EUR][1000 genomes]
rs9916460	0.90[EUR][1000 genomes]
rs9916782	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058194	chr17:38457226-38502453	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1063310	chr17:38467043-38499351	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	nsv1057471	chr17:38467043-38502453	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv1058540	chr17:38467043-38515087	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38479200-38494400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:38485600-38497200	Genic enhancers	Fetal Muscle Leg	muscle
3	chr17:38487000-38494200	Weak transcription	Dnd41	blood
4	chr17:38487200-38497400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr17:38487800-38495600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr17:38488200-38497000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:38489000-38496800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr17:38489000-38497200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:38489200-38497000	Weak transcription	HSMMtube	muscle
10	chr17:38489600-38494600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr17:38489600-38497400	Weak transcription	Brain Anterior Caudate	brain
12	chr17:38490200-38497200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr17:38490400-38494200	Enhancers	Stomach Smooth Muscle	stomach
14	chr17:38490600-38496600	Weak transcription	Small Intestine	intestine
15	chr17:38491000-38497200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr17:38491200-38497200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr17:38491400-38495600	Weak transcription	Brain Hippocampus Middle	brain
18	chr17:38491400-38497000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:38491400-38497000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr17:38491400-38497400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:38491600-38494200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr17:38491600-38494200	Weak transcription	K562	blood
23	chr17:38491600-38496400	Strong transcription	Fetal Intestine Small	intestine
24	chr17:38491600-38496800	Weak transcription	Fetal Kidney	kidney
25	chr17:38491600-38497000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:38491600-38497000	Weak transcription	NH-A	brain
27	chr17:38492000-38497200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr17:38492200-38494200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr17:38492200-38495600	Weak transcription	NHLF	lung
30	chr17:38492200-38496000	Weak transcription	HSMM	muscle
31	chr17:38492200-38497000	Weak transcription	Gastric	stomach
32	chr17:38492200-38497000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr17:38492200-38497200	Weak transcription	Aorta	Aorta
34	chr17:38492400-38494400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:38492400-38495400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr17:38492400-38495600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:38492400-38495800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:38492400-38495800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr17:38492400-38497000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr17:38492400-38497000	Weak transcription	HUVEC	blood vessel
41	chr17:38492600-38495400	Weak transcription	Stomach Mucosa	stomach
42	chr17:38492600-38496400	Weak transcription	HepG2	liver
43	chr17:38492600-38496800	Weak transcription	Hela-S3	cervix
44	chr17:38492800-38497400	Enhancers	Fetal Thymus	thymus
45	chr17:38493000-38495600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr17:38493000-38495600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr17:38493000-38496800	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr17:38493000-38497200	Enhancers	Placenta	Placenta
49	chr17:38493200-38494200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr17:38493200-38494400	Genic enhancers	Fetal Stomach	stomach

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