Variant report

Variant	rs58345794
Chromosome Location	chr10:43818537-43818538
allele	A/C
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	POLR2A	chr10:43818385-43818628	U87	brain:	n/a	n/a
2	POLR2A	chr10:43818285-43818842	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAF1	chr10:43818424-43818692	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr10:43818068-43818739	H1-hESC	embryonic stem cell:	n/a	chr10:43818330-43818345 chr10:43818332-43818347
5	SIN3A	chr10:43817812-43818765	H1-hESC	embryonic stem cell:	n/a	chr10:43818572-43818585
6	POLR2A	chr10:43818451-43818631	A549	lung:	n/a	n/a
7	POLR2A	chr10:43818385-43818597	U87	brain:	n/a	n/a
8	POLR2A	chr10:43818429-43818673	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUND	chr10:43818299-43818833	H1-hESC	embryonic stem cell:	n/a	chr10:43818430-43818439 chr10:43818439-43818449
10	POLR2A	chr10:43818442-43818576	A549	lung:	n/a	n/a
11	NFYB	chr10:43818251-43818685	K562	blood:	n/a	chr10:43818412-43818422
12	TBP	chr10:43818475-43818910	H1-hESC	embryonic stem cell:	n/a	n/a
13	SP1	chr10:43818075-43818728	H1-hESC	embryonic stem cell:	n/a	chr10:43818359-43818371 chr10:43818432-43818441 chr10:43818453-43818465 chr10:43818454-43818464 chr10:43818359-43818371 chr10:43818249-43818261 chr10:43818361-43818370 chr10:43818359-43818370 chr10:43818250-43818264 chr10:43818361-43818370 chr10:43818455-43818464 chr10:43818360-43818369 chr10:43818454-43818463 chr10:43818455-43818464 chr10:43818360-43818370 chr10:43818450-43818464 chr10:43818454-43818464 chr10:43818453-43818465
14	POLR2A	chr10:43818240-43818981	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAZ	chr10:43818154-43818700	K562	blood:	n/a	chr10:43818452-43818462 chr10:43818336-43818345
16	YY1	chr10:43818289-43819098	H1-hESC	embryonic stem cell:	n/a	chr10:43818983-43819005 chr10:43819020-43819031 chr10:43818454-43818463
17	POLR2A	chr10:43818438-43818648	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUND	chr10:43818269-43818628	K562	blood:	n/a	chr10:43818430-43818439 chr10:43818439-43818449
19	TAF1	chr10:43818336-43818843	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr10:43818426-43818675	Gliobla	brain:	n/a	n/a
21	RCOR1	chr10:43818322-43818612	K562	blood:	n/a	n/a
22	POLR2A	chr10:43818436-43818631	A549	lung:	n/a	n/a
23	IRF1	chr10:43818265-43818539	K562	blood:	n/a	chr10:43818359-43818373 chr10:43818413-43818422 chr10:43818453-43818467
24	POLR2A	chr10:43818447-43818690	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr10:43818399-43818661	A549	lung:	n/a	n/a
26	MXI1	chr10:43817981-43818885	SK-N-SH	brain:	n/a	chr10:43818330-43818345 chr10:43818332-43818347

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43816783..43818713-chr10:43838155..43841036,2	MCF-7	breast:
2	chr10:43812264..43813765-chr10:43817090..43818832,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FXYD4-1	chr10:43818459-43819148	XLOC_008466
2	lnc-FXYD4-1	chr10:43818459-43819148	NONHSAT012949

Variant related genes	Relation type
ENSG00000224265	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs2460564	1.00[ASN][1000 genomes]
rs2493649	1.00[ASN][1000 genomes]
rs55780623	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55969732	1.00[EUR][1000 genomes]
rs55984046	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56067782	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56305563	1.00[EUR][1000 genomes]
rs56706302	1.00[EUR][1000 genomes]
rs57050417	1.00[EUR][1000 genomes]
rs57169447	1.00[EUR][1000 genomes]
rs58036139	1.00[EUR][1000 genomes]
rs58052353	1.00[EUR][1000 genomes]
rs58594005	1.00[EUR][1000 genomes]
rs59737279	1.00[EUR][1000 genomes]
rs59946114	1.00[EUR][1000 genomes]
rs73267969	1.00[EUR][1000 genomes]
rs74135719	1.00[AMR][1000 genomes]
rs74135720	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74135736	1.00[EUR][1000 genomes]
rs74137729	1.00[EUR][1000 genomes]
rs74137730	1.00[EUR][1000 genomes]
rs74137733	1.00[EUR][1000 genomes]
rs74137734	1.00[EUR][1000 genomes]
rs74137735	1.00[EUR][1000 genomes]
rs74137736	1.00[EUR][1000 genomes]
rs74137737	1.00[EUR][1000 genomes]
rs74137738	1.00[EUR][1000 genomes]
rs74137739	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1035873	chr10:43721143-43873664	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv466882	chr10:43721481-43849358	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv550697	chr10:43721481-43849358	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1044422	chr10:43731521-43860307	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43817000-43818600	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr10:43817200-43819000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr10:43817600-43818800	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr10:43817800-43818600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:43817800-43818600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:43817800-43818600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:43817800-43818600	Active TSS	Brain Hippocampus Middle	brain
8	chr10:43817800-43818600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr10:43817800-43818600	Active TSS	Colonic Mucosa	Colon
10	chr10:43817800-43818600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr10:43817800-43818800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:43817800-43818800	Active TSS	Brain Substantia Nigra	brain
13	chr10:43817800-43818800	Active TSS	Rectal Smooth Muscle	rectum
14	chr10:43817800-43818800	Enhancers	Small Intestine	intestine
15	chr10:43817800-43818800	Bivalent/Poised TSS	Osteobl	bone
16	chr10:43817800-43819000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr10:43817800-43819000	Enhancers	Primary B cells from peripheral blood	blood
18	chr10:43817800-43819000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:43817800-43819000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:43817800-43819000	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr10:43817800-43819000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr10:43817800-43819000	Enhancers	Fetal Brain Male	brain
23	chr10:43817800-43819000	Enhancers	Fetal Heart	heart
24	chr10:43817800-43819200	Enhancers	Primary B cells from cord blood	blood
25	chr10:43818000-43818600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr10:43818000-43818600	Active TSS	H1 Cell Line	embryonic stem cell
27	chr10:43818000-43818600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr10:43818000-43818600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr10:43818000-43818600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr10:43818000-43818600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr10:43818000-43818600	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr10:43818000-43818600	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr10:43818000-43818600	Active TSS	NH-A	brain
34	chr10:43818000-43818800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr10:43818000-43818800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr10:43818000-43818800	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr10:43818000-43818800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr10:43818000-43818800	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr10:43818000-43818800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr10:43818000-43818800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr10:43818000-43818800	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr10:43818000-43818800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr10:43818000-43818800	Bivalent Enhancer	Placenta	Placenta
44	chr10:43818000-43818800	Bivalent Enhancer	Fetal Thymus	thymus
45	chr10:43818000-43818800	Flanking Active TSS	Pancreas	Pancrea
46	chr10:43818000-43818800	Active TSS	Right Atrium	heart
47	chr10:43818000-43818800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr10:43818000-43819000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr10:43818000-43819000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr10:43818000-43819000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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