Variant report

Variant	rs74105076
Chromosome Location	chr13:98084479-98084480
allele	A/G
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	STAT3	chr13:98084386-98084573	MCF10A-Er-Src	breast:	n/a	n/a
2	REST	chr13:98084393-98087806	H1-neurons	neurons:	n/a	chr13:98085145-98085163 chr13:98085340-98085353
3	RFX5	chr13:98083186-98086694	SK-N-SH	brain:	n/a	chr13:98085517-98085531 chr13:98085516-98085531
4	POLR2A	chr13:98084412-98087756	GM12891	blood:	n/a	n/a
5	SPI1	chr13:98084458-98084815	GM12878	blood:	n/a	chr13:98084642-98084655
6	POLR2A	chr13:98084476-98086323	U87	brain:	n/a	n/a
7	MAX	chr13:98084466-98086525	A549	lung:	n/a	chr13:98085402-98085415 chr13:98085403-98085414 chr13:98085404-98085413 chr13:98085402-98085415 chr13:98085405-98085412 chr13:98085404-98085413 chr13:98085403-98085413 chr13:98085403-98085413 chr13:98085403-98085414 chr13:98085402-98085412 chr13:98085403-98085414 chr13:98085402-98085415
8	RFX5	chr13:98084426-98086613	IMR90	lung:	n/a	chr13:98085517-98085531 chr13:98085516-98085531
9	MXI1	chr13:98084370-98087869	SK-N-SH	brain:	n/a	n/a
10	MAFK	chr13:98084324-98084495	HepG2	liver:	n/a	chr13:98084363-98084377 chr13:98084364-98084375 chr13:98084365-98084376 chr13:98084364-98084375
11	EP300	chr13:98083473-98087710	SK-N-SH	brain:	n/a	chr13:98086667-98086676 chr13:98085977-98085990

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:98078675..98081221-chr13:98083499..98086151,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OXGR1-6	chr13:98081597-98086236	NONHSAT034832

Variant related genes	Relation type
RAP2A	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55786426	1.00[AMR][1000 genomes]
rs56265337	1.00[AMR][1000 genomes]
rs56330757	1.00[AMR][1000 genomes]
rs56396307	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57122527	1.00[AMR][1000 genomes]
rs58319854	1.00[AMR][1000 genomes]
rs59441671	1.00[AMR][1000 genomes]
rs60276769	1.00[AMR][1000 genomes]
rs60791550	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60954566	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61086335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61649100	1.00[AMR][1000 genomes]
rs7335097	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74105068	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74105069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74105168	1.00[AMR][1000 genomes]
rs74105466	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74105468	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74105475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74105476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74105499	1.00[AMR][1000 genomes]
rs74105501	1.00[AMR][1000 genomes]
rs74106253	1.00[AMR][1000 genomes]
rs74106255	1.00[AMR][1000 genomes]
rs74106912	1.00[AMR][1000 genomes]
rs74106938	1.00[AMR][1000 genomes]
rs74106939	1.00[AMR][1000 genomes]
rs74106943	1.00[AMR][1000 genomes]
rs74106946	1.00[AMR][1000 genomes]
rs74108410	1.00[AMR][1000 genomes]

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	nsv832694	chr13:97930561-98137882	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv1791802	chr13:98076911-98096882	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1804050	chr13:98076911-98096882	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1794802	chr13:98076911-98106042	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1797132	chr13:98076911-98106042	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv562794	chr13:98083262-98086828	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:98076400-98084800	Weak transcription	Esophagus	oesophagus
2	chr13:98082000-98084600	Enhancers	Fetal Intestine Large	intestine
3	chr13:98082200-98084600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:98082200-98084600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:98082200-98084600	Weak transcription	Aorta	Aorta
6	chr13:98082200-98084600	Weak transcription	Colon Smooth Muscle	Colon
7	chr13:98082200-98084600	Weak transcription	Left Ventricle	heart
8	chr13:98082200-98084600	Weak transcription	Hela-S3	cervix
9	chr13:98082200-98085000	Weak transcription	K562	blood
10	chr13:98082400-98084600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr13:98082400-98084600	Weak transcription	Placenta	Placenta
12	chr13:98082400-98084800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:98082800-98084600	Weak transcription	HSMMtube	muscle
14	chr13:98082800-98084800	Weak transcription	Spleen	Spleen
15	chr13:98083000-98084600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:98083200-98088000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr13:98083400-98084600	Flanking Active TSS	Fetal Brain Female	brain
18	chr13:98083400-98088800	Active TSS	GM12878-XiMat	blood
19	chr13:98083600-98084600	Weak transcription	Colonic Mucosa	Colon
20	chr13:98083600-98084800	Flanking Active TSS	Dnd41	blood
21	chr13:98083600-98088200	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr13:98083800-98084600	Weak transcription	Psoas Muscle	Psoas
23	chr13:98083800-98084800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr13:98083800-98088600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:98083800-98089200	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr13:98084000-98084600	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr13:98084000-98084600	Enhancers	Primary T cells from cord blood	blood
28	chr13:98084000-98088000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:98084000-98088600	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr13:98084000-98088800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr13:98084000-98088800	Active TSS	Fetal Kidney	kidney
32	chr13:98084000-98089200	Active TSS	NHLF	lung
33	chr13:98084200-98084600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr13:98084200-98084600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr13:98084200-98084600	Enhancers	Liver	Liver
36	chr13:98084200-98084600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr13:98084200-98084600	Flanking Active TSS	HepG2	liver
38	chr13:98084200-98084800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:98084200-98085200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:98084200-98088000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:98084200-98088000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr13:98084200-98088000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:98084200-98088200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:98084200-98089000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr13:98084200-98089000	Active TSS	NHDF-Ad	bronchial
46	chr13:98084400-98084600	Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr13:98084400-98084600	Enhancers	Primary B cells from peripheral blood	blood
48	chr13:98084400-98084600	Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr13:98084400-98084600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr13:98084400-98084600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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