Variant report

Variant	rs7175593
Chromosome Location	chr15:58813229-58813230
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	CBX3	chr15:58813193-58814309	K562	blood:	n/a	n/a
2	POLR2A	chr15:58813052-58813396	K562	blood:	n/a	n/a
3	HEY1	chr15:58813152-58814099	K562	blood:	n/a	n/a
4	POLR2A	chr15:58813079-58815846	ECC-1	luminal epithelium:	n/a	n/a
5	CTCF	chr15:58813220-58813370	BE2_C	brain:	n/a	n/a
6	BHLHE40	chr15:58813126-58813356	K562	blood:	n/a	n/a
7	MAX	chr15:58813164-58814688	ECC-1	luminal epithelium:	n/a	chr15:58813357-58813367 chr15:58813895-58813904 chr15:58813876-58813886
8	JUN	chr15:58812635-58814659	K562	blood:	n/a	chr15:58813896-58813907 chr15:58813894-58813904 chr15:58813894-58813904 chr15:58813894-58813904 chr15:58813895-58813902 chr15:58813894-58813904 chr15:58813895-58813903 chr15:58813895-58813903
9	POLR2A	chr15:58813110-58814173	K562	blood:	n/a	n/a
10	POLR2A	chr15:58813104-58814574	K562	blood:	n/a	n/a
11	ARID3A	chr15:58812778-58814188	K562	blood:	n/a	n/a
12	POLR2A	chr15:58813149-58813463	HUVEC	blood vessel:	n/a	n/a
13	TCF12	chr15:58813169-58814497	ECC-1	luminal epithelium:	n/a	n/a
14	E2F6	chr15:58813163-58814159	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58811000..58814506-chr15:58833587..58836863,3	K562	blood:

Variant related genes	Relation type
ENSG00000259476	TF binding region
ENSG00000166035	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11071385	0.94[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11629762	0.82[CHB][hapmap]
rs11630152	0.82[CHB][hapmap]
rs11630220	1.00[CHB][hapmap]
rs11633131	0.82[CHB][hapmap]
rs12324536	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17190615	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17190622	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17269341	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs2899632	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7174210	1.00[CHB][hapmap]
rs8029592	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3362898	chr15:58705732-58850860	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1043041	chr15:58744505-58876327	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv569601	chr15:58800766-58866156	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58804000-58816200	Weak transcription	Liver	Liver
2	chr15:58807000-58813400	Weak transcription	Fetal Brain Male	brain
3	chr15:58807600-58815400	Enhancers	Fetal Thymus	thymus
4	chr15:58807800-58813400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr15:58807800-58815800	Enhancers	Primary B cells from cord blood	blood
6	chr15:58807800-58820200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr15:58808400-58813600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:58808400-58816200	Weak transcription	HepG2	liver
9	chr15:58809600-58813600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:58809600-58813600	Weak transcription	Stomach Mucosa	stomach
11	chr15:58809600-58814800	Enhancers	Fetal Stomach	stomach
12	chr15:58809600-58817000	Enhancers	Brain Substantia Nigra	brain
13	chr15:58810000-58813600	Weak transcription	Brain Angular Gyrus	brain
14	chr15:58810200-58813400	Weak transcription	HSMMtube	muscle
15	chr15:58811000-58813600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr15:58811200-58815400	Enhancers	GM12878-XiMat	blood
17	chr15:58811600-58813400	Enhancers	HUVEC	blood vessel
18	chr15:58811600-58815800	Enhancers	Brain Hippocampus Middle	brain
19	chr15:58811800-58813400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:58811800-58813600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:58811800-58815400	Enhancers	Spleen	Spleen
22	chr15:58811800-58815600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:58811800-58815800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr15:58812000-58814400	Enhancers	Brain Cingulate Gyrus	brain
25	chr15:58812000-58815800	Enhancers	Brain Anterior Caudate	brain
26	chr15:58812200-58813400	Weak transcription	A549	lung
27	chr15:58812200-58814000	Enhancers	Thymus	Thymus
28	chr15:58812200-58814200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr15:58812200-58814600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:58812400-58813800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr15:58812400-58814600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr15:58812400-58814600	Enhancers	Primary hematopoietic stem cells	blood
33	chr15:58812400-58814800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr15:58812400-58815800	Enhancers	Fetal Muscle Leg	muscle
35	chr15:58812400-58816000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr15:58812600-58813400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr15:58812600-58813600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:58812600-58813600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:58812600-58814000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:58812600-58814200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr15:58812600-58814200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr15:58812600-58814200	Flanking Active TSS	K562	blood
43	chr15:58812600-58814600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr15:58812600-58815200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:58812600-58815400	Enhancers	Esophagus	oesophagus
46	chr15:58812600-58815400	Enhancers	Right Atrium	heart
47	chr15:58812600-58815400	Enhancers	Right Ventricle	heart
48	chr15:58812600-58815600	Enhancers	Adipose Nuclei	Adipose
49	chr15:58812600-58815800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr15:58812600-58816200	Enhancers	Left Ventricle	heart

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