Variant report

Variant	rs507485
Chromosome Location	chr10:43250110-43250111
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr10:43249458-43250445	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr10:43248315-43250857	HCT-116	colon:	n/a	n/a
3	ZBTB7A	chr10:43250076-43250216	K562	blood:	n/a	n/a
4	TAF1	chr10:43249954-43250272	ECC-1	luminal epithelium:	n/a	n/a
5	UBTF	chr10:43250109-43250149	K562	blood:	n/a	n/a
6	CTCF	chr10:43249980-43250130	HRE	kidney:	n/a	n/a
7	POLR2A	chr10:43249859-43250300	HCT-116	colon:	n/a	n/a
8	E2F6	chr10:43250080-43250266	K562	blood:	n/a	chr10:43250235-43250245
9	ZNF263	chr10:43249533-43250280	HEK293-T-REx	kidney:	n/a	chr10:43250064-43250073
10	MAX	chr10:43249716-43250243	K562	blood:	n/a	n/a
11	POLR2A	chr10:43250075-43250334	ECC-1	luminal epithelium:	n/a	n/a
12	E2F6	chr10:43249518-43250175	H1-hESC	embryonic stem cell:	n/a	chr10:43249688-43249698
13	MAX	chr10:43249585-43250360	ECC-1	luminal epithelium:	n/a	n/a
14	CTCF	chr10:43250080-43250230	SK-N-SH_RA	brain:	n/a	n/a
15	GABPA	chr10:43249581-43250191	H1-hESC	embryonic stem cell:	n/a	chr10:43250178-43250187
16	SIN3A	chr10:43249538-43250144	H1-hESC	embryonic stem cell:	n/a	chr10:43249858-43249867
17	MAX	chr10:43248353-43250123	A549	lung:	n/a	n/a
18	ZBTB7A	chr10:43249499-43250455	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr10:43249448-43250388	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr10:43249724-43250381	HCT-116	colon:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43250063-43250113	SK-N-SH	brain:	n/a
2	chr10:43250063-43250113	GM06990	blood:	n/a
3	chr10:43250063-43250113	NHDF-neo	bronchial:	n/a
4	chr10:43250063-43250113	NHBE	bronchial:	n/a
5	chr10:43250063-43250113	HEK293	kidney:	embryo
6	chr10:43250063-43250113	HIPEpiC	eye:	n/a
7	chr10:43250063-43250113	HCF	heart:	n/a
8	chr10:43250063-43250113	SK-N-SH_RA	brain:	n/a
9	chr10:43250063-43250113	HRPEpiC	eye:	n/a
10	chr10:43250063-43250113	PrEC	prostate:	n/a
11	chr10:43250063-43250113	GM12891	blood:	n/a
12	chr10:43250063-43250113	HPAEpiC	pulmonary alveolar:	n/a
13	chr10:43250063-43250113	NT2-D1	testis:	n/a
14	chr10:43250063-43250113	SKMC	muscle:	n/a
15	chr10:43250063-43250113	Caco-2	colon:	n/a
16	chr10:43250063-43250113	RPTEC	kidney:	n/a
17	chr10:43250063-43250113	AG04450	lung:	fetal
18	chr10:43250063-43250113	CMK	blood:	n/a
19	chr10:43250063-43250113	PFSK-1	brain:	n/a
20	chr10:43250063-43250113	GM19239	blood:	n/a
21	chr10:43250063-43250113	HNPCEpiC	eye:	n/a
22	chr10:43250063-43250113	U87	brain:	n/a
23	chr10:43250063-43250113	MCF10A-Er-Src	breast:	n/a
24	chr10:43250063-43250113	BE2_C	brain:	n/a
25	chr10:43250063-43250113	NH-A	brain:	n/a
26	chr10:43250063-43250113	AG04449	skin:	fetal
27	chr10:43250063-43250113	SK-N-MC	brain:	n/a
28	chr10:43250063-43250113	A549	lung:	n/a
29	chr10:43250063-43250113	K562	blood:	n/a
30	chr10:43250063-43250113	IMR90	lung:	fetal
31	chr10:43250063-43250113	NB4	blood:	n/a
32	chr10:43250063-43250113	Hela-S3	cervix:	n/a
33	chr10:43250063-43250113	ovcar-3	ovarian:	n/a
34	chr10:43250063-43250113	MCF-7	breast:	n/a
35	chr10:43250063-43250113	HL-60	blood:	n/a
36	chr10:43250063-43250113	GM12878	blood:	n/a
37	chr10:43250063-43250113	T-47D	breast:	n/a
38	chr10:43250063-43250113	HRE	kidney:	n/a
39	chr10:43250063-43250113	AoSMC	blood vessel:	n/a
40	chr10:43250063-43250113	ECC-1	luminal epithelium:	n/a
41	chr10:43250063-43250113	SAEC	small airway:	n/a
42	chr10:43250063-43250113	H1-hESC	embryonic stem cell:	embryo
43	chr10:43250063-43250113	HMEC	breast:	n/a
44	chr10:43250063-43250113	Jurkat	blood:	n/a
45	chr10:43250063-43250113	HepG2	liver:	n/a
46	chr10:43250063-43250113	HUVEC	blood vessel:	n/a
47	chr10:43250063-43250113	HCM	heart:	n/a
48	chr10:43250063-43250113	ProgFib	skin:	n/a
49	chr10:43250063-43250113	AG10803	skin:	n/a
50	chr10:43250063-43250113	PANC-1	pancreas:	n/a

No data

Variant related genes	Relation type
ENSG00000259869	TF binding region
ENSG00000259869	CpG island

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11819259	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs493230	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs538429	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56213617	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61844769	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs671429	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs694439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	esv2757381	chr10:43104068-43352995	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv34929	chr10:43116194-43329770	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	esv2764213	chr10:43183225-43251704	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv1036317	chr10:43189367-43253587	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1045347	chr10:43197101-43253587	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1045144	chr10:43202223-43251692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1047398	chr10:43202223-43253587	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1044275	chr10:43207270-43253587	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv550694	chr10:43218552-43253587	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv895076	chr10:43234432-43326627	Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv1047838	chr10:43234590-43379219	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
20	nsv8626	chr10:43235537-43263641	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv825349	chr10:43238099-43265011	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43248200-43250200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr10:43248200-43250800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:43248200-43251000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr10:43248200-43251200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
5	chr10:43248400-43250400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:43248400-43250400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
7	chr10:43248400-43250800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:43248400-43250800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:43248400-43250800	Active TSS	Aorta	Aorta
10	chr10:43248400-43251000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr10:43248400-43251000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr10:43248400-43251000	Active TSS	Gastric	stomach
13	chr10:43248400-43251000	Active TSS	Right Atrium	heart
14	chr10:43248400-43251200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr10:43248400-43251400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr10:43248400-43251400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr10:43248600-43250200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
18	chr10:43248600-43250200	Flanking Bivalent TSS/Enh	NHEK	skin
19	chr10:43248600-43250400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr10:43248600-43250400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
21	chr10:43248600-43250400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
22	chr10:43248600-43250600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:43248600-43250600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
24	chr10:43248600-43250600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
25	chr10:43248600-43250600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
26	chr10:43248600-43250600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
27	chr10:43248600-43250600	Bivalent/Poised TSS	HSMMtube	muscle
28	chr10:43248600-43250800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr10:43248600-43250800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
30	chr10:43248600-43250800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr10:43248600-43251000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr10:43248600-43251600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr10:43248800-43250200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
34	chr10:43248800-43250200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
35	chr10:43248800-43250200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
36	chr10:43248800-43250200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
37	chr10:43248800-43250200	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
38	chr10:43248800-43250200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr10:43248800-43250200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
40	chr10:43248800-43250200	Flanking Bivalent TSS/Enh	Placenta	Placenta
41	chr10:43248800-43250200	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
42	chr10:43248800-43250600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr10:43248800-43250600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:43248800-43250800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr10:43248800-43250800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr10:43248800-43250800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr10:43249000-43250200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
48	chr10:43249000-43250200	Bivalent/Poised TSS	Fetal Kidney	kidney
49	chr10:43249000-43250200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
50	chr10:43249000-43250200	Active TSS	K562	blood

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