Variant report

Variant	rs72785234
Chromosome Location	chr10:43818959-43818960
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:43818240-43818981	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr10:43818289-43819098	H1-hESC	embryonic stem cell:	n/a	chr10:43818983-43819005 chr10:43819020-43819031 chr10:43818454-43818463
3	RXRA	chr10:43818740-43819009	H1-hESC	embryonic stem cell:	n/a	chr10:43819001-43819008

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43818911-43818961	HCPEpiC	choroid plexus:	n/a
2	chr10:43818911-43818961	SK-N-SH	brain:	n/a
3	chr10:43818911-43818961	HRCEpiC	kidney:	n/a
4	chr10:43818911-43818961	HUVEC	blood vessel:	n/a
5	chr10:43818911-43818961	GM06990	blood:	n/a
6	chr10:43818911-43818961	HAEpiC	amniotic membrane:	n/a
7	chr10:43818911-43818961	AG09319	gingival:	n/a
8	chr10:43818911-43818961	HepG2	liver:	n/a
9	chr10:43818911-43818961	HRPEpiC	eye:	n/a
10	chr10:43818911-43818961	GM12892	blood:	n/a
11	chr10:43818911-43818961	HCT-116	colon:	n/a
12	chr10:43818911-43818961	Caco-2	colon:	n/a
13	chr10:43818911-43818961	Hela-S3	cervix:	n/a
14	chr10:43818911-43818961	AG10803	skin:	n/a
15	chr10:43818911-43818961	RPTEC	kidney:	n/a
16	chr10:43818911-43818961	GM12878	blood:	n/a
17	chr10:43818911-43818961	T-47D	breast:	n/a
18	chr10:43818911-43818961	IMR90	lung:	fetal
19	chr10:43818911-43818961	ProgFib	skin:	n/a
20	chr10:43818911-43818961	MCF-7	breast:	n/a
21	chr10:43818911-43818961	H1-hESC	embryonic stem cell:	embryo
22	chr10:43818911-43818961	K562	blood:	n/a
23	chr10:43818911-43818961	HEEpiC	esophagus:	n/a
24	chr10:43818911-43818961	SK-N-SH_RA	brain:	n/a
25	chr10:43818911-43818961	CMK	blood:	n/a
26	chr10:43818911-43818961	Jurkat	blood:	n/a
27	chr10:43818911-43818961	HL-60	blood:	n/a
28	chr10:43818911-43818961	NH-A	brain:	n/a
29	chr10:43818911-43818961	HCM	heart:	n/a
30	chr10:43818911-43818961	HRE	kidney:	n/a
31	chr10:43818911-43818961	SKMC	muscle:	n/a
32	chr10:43818911-43818961	SK-N-MC	brain:	n/a
33	chr10:43818911-43818961	HNPCEpiC	eye:	n/a
34	chr10:43818911-43818961	Hepatocyte	liver:	n/a
35	chr10:43818911-43818961	ECC-1	luminal epithelium:	n/a
36	chr10:43818911-43818961	HEK293	kidney:	embryo
37	chr10:43818911-43818961	AoSMC	blood vessel:	n/a
38	chr10:43818911-43818961	PFSK-1	brain:	n/a
39	chr10:43818911-43818961	GM12891	blood:	n/a
40	chr10:43818911-43818961	PrEC	prostate:	n/a
41	chr10:43818911-43818961	HIPEpiC	eye:	n/a
42	chr10:43818911-43818961	AG04449	skin:	fetal
43	chr10:43818911-43818961	U87	brain:	n/a
44	chr10:43818911-43818961	HMEC	breast:	n/a
45	chr10:43818911-43818961	GM19239	blood:	n/a
46	chr10:43818911-43818961	NB4	blood:	n/a
47	chr10:43818911-43818961	NHDF-neo	bronchial:	n/a
48	chr10:43818911-43818961	ovcar-3	ovarian:	n/a
49	chr10:43818911-43818961	HPAEpiC	pulmonary alveolar:	n/a
50	chr10:43818911-43818961	AG04450	lung:	fetal

No data

(count:2 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000224265	TF binding region
ENSG00000224265	CpG island

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1106215	1.00[ASN][1000 genomes]
rs11238575	1.00[ASN][1000 genomes]
rs17153601	1.00[ASN][1000 genomes]
rs17366781	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1856400	1.00[ASN][1000 genomes]
rs1879311	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248807	1.00[ASN][1000 genomes]
rs2253260	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2264603	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2265955	1.00[ASN][1000 genomes]
rs2819025	1.00[ASN][1000 genomes]
rs2999222	1.00[ASN][1000 genomes]
rs3006393	1.00[ASN][1000 genomes]
rs3006410	1.00[ASN][1000 genomes]
rs3124211	1.00[ASN][1000 genomes]
rs4948727	1.00[ASN][1000 genomes]
rs55765722	1.00[ASN][1000 genomes]
rs56037308	1.00[ASN][1000 genomes]
rs56087058	1.00[ASN][1000 genomes]
rs56234785	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56237566	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56252639	1.00[ASN][1000 genomes]
rs56275379	1.00[ASN][1000 genomes]
rs7072967	1.00[ASN][1000 genomes]
rs7073345	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7084621	1.00[ASN][1000 genomes]
rs7085670	1.00[ASN][1000 genomes]
rs72785236	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785237	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785243	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785246	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785248	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785255	1.00[ASN][1000 genomes]
rs72785256	1.00[ASN][1000 genomes]
rs72785266	1.00[ASN][1000 genomes]
rs72787434	1.00[ASN][1000 genomes]
rs7916718	1.00[ASN][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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43817200-43819000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr10:43817800-43819000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr10:43817800-43819000	Enhancers	Primary B cells from peripheral blood	blood
4	chr10:43817800-43819000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:43817800-43819000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:43817800-43819000	Flanking Active TSS	Brain Cingulate Gyrus	brain
7	chr10:43817800-43819000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr10:43817800-43819000	Enhancers	Fetal Brain Male	brain
9	chr10:43817800-43819000	Enhancers	Fetal Heart	heart
10	chr10:43817800-43819200	Enhancers	Primary B cells from cord blood	blood
11	chr10:43818000-43819000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:43818000-43819000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:43818000-43819000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:43818000-43819000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr10:43818000-43819000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:43818000-43819000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:43818000-43819000	Active TSS	Fetal Brain Female	brain
18	chr10:43818000-43819000	Enhancers	Lung	lung
19	chr10:43818000-43819000	Enhancers	HUVEC	blood vessel
20	chr10:43818000-43819800	Enhancers	Spleen	Spleen
21	chr10:43818200-43819000	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr10:43818200-43819000	Active TSS	Brain Angular Gyrus	brain
23	chr10:43818200-43819000	Active TSS	Brain Anterior Caudate	brain
24	chr10:43818200-43819000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:43818200-43819000	Active TSS	Stomach Smooth Muscle	stomach
26	chr10:43818200-43819000	Active TSS	A549	lung
27	chr10:43818400-43819000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:43818400-43819000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr10:43818600-43819000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr10:43818600-43819000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr10:43818600-43819000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr10:43818600-43819000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr10:43818600-43819000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr10:43818600-43819000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr10:43818600-43819000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr10:43818600-43819000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr10:43818600-43819000	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr10:43818600-43819000	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr10:43818600-43819000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr10:43818600-43819000	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr10:43818600-43819000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr10:43818600-43828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr10:43818800-43819000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr10:43818800-43819000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:43818800-43819000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:43818800-43819000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr10:43818800-43819000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:43818800-43819000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr10:43818800-43819000	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr10:43818800-43819000	Enhancers	Primary hematopoietic stem cells	blood

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