Variant report

Variant	rs11003820
Chromosome Location	chr10:51489560-51489561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HMGN3	chr10:51488790-51489739	K562	blood:	n/a	n/a
2	YY1	chr10:51488848-51489575	HepG2	liver:	n/a	chr10:51489364-51489373 chr10:51488959-51488973 chr10:51489177-51489191 chr10:51489560-51489569 chr10:51489365-51489379 chr10:51489310-51489324 chr10:51489056-51489070 chr10:51489417-51489426 chr10:51489313-51489327 chr10:51489505-51489519 chr10:51489415-51489426 chr10:51489307-51489321 chr10:51489522-51489533
3	ZBTB7A	chr10:51489258-51489700	K562	blood:	n/a	n/a
4	POLR2A	chr10:51489559-51489758	HepG2	liver:	n/a	n/a
5	MAZ	chr10:51488256-51489676	K562	blood:	n/a	n/a
6	POLR2A	chr10:51488744-51489758	Gliobla	brain:	n/a	n/a
7	POLR2A	chr10:51488257-51489569	PBDE	blood:	n/a	n/a
8	POLR2A	chr10:51487906-51489757	HL-60	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:51489510-51489560	PFSK-1	brain:	n/a
2	chr10:51489510-51489560	HRCEpiC	kidney:	n/a
3	chr10:51489510-51489560	NHBE	bronchial:	n/a
4	chr10:51489510-51489560	NH-A	brain:	n/a
5	chr10:51489510-51489560	MCF10A-Er-Src	breast:	n/a
6	chr10:51489510-51489560	HL-60	blood:	n/a
7	chr10:51489510-51489560	SKMC	muscle:	n/a
8	chr10:51489510-51489560	HUVEC	blood vessel:	n/a
9	chr10:51489510-51489560	ovcar-3	ovarian:	n/a
10	chr10:51489510-51489560	GM12891	blood:	n/a
11	chr10:51489510-51489560	SK-N-SH	brain:	n/a
12	chr10:51489510-51489560	HCM	heart:	n/a
13	chr10:51489510-51489560	NT2-D1	testis:	n/a
14	chr10:51489510-51489560	GM12892	blood:	n/a
15	chr10:51489510-51489560	T-47D	breast:	n/a
16	chr10:51489510-51489560	AoSMC	blood vessel:	n/a
17	chr10:51489510-51489560	HepG2	liver:	n/a
18	chr10:51489510-51489560	AG09319	gingival:	n/a
19	chr10:51489510-51489560	A549	lung:	n/a
20	chr10:51489510-51489560	K562	blood:	n/a
21	chr10:51489510-51489560	HPAEpiC	pulmonary alveolar:	n/a
22	chr10:51489510-51489560	HRE	kidney:	n/a
23	chr10:51489510-51489560	HMEC	breast:	n/a
24	chr10:51489510-51489560	NHDF-neo	bronchial:	n/a
25	chr10:51489510-51489560	CMK	blood:	n/a
26	chr10:51489510-51489560	BE2_C	brain:	n/a
27	chr10:51489510-51489560	HEK293	kidney:	embryo
28	chr10:51489510-51489560	NB4	blood:	n/a
29	chr10:51489510-51489560	MCF-7	breast:	n/a
30	chr10:51489510-51489560	GM12878	blood:	n/a
31	chr10:51489510-51489560	Jurkat	blood:	n/a
32	chr10:51489510-51489560	HIPEpiC	eye:	n/a
33	chr10:51489510-51489560	SK-N-SH_RA	brain:	n/a
34	chr10:51489510-51489560	PrEC	prostate:	n/a
35	chr10:51489510-51489560	Hela-S3	cervix:	n/a
36	chr10:51489510-51489560	HNPCEpiC	eye:	n/a
37	chr10:51489510-51489560	IMR90	lung:	fetal
38	chr10:51489510-51489560	BJ	skin:	n/a
39	chr10:51489510-51489560	AG09309	skin:	n/a
40	chr10:51489510-51489560	AG10803	skin:	n/a
41	chr10:51489510-51489560	U87	brain:	n/a
42	chr10:51489510-51489560	Caco-2	colon:	n/a
43	chr10:51489510-51489560	LNCaP	prostate:	n/a
44	chr10:51489510-51489560	HEEpiC	esophagus:	n/a
45	chr10:51489510-51489560	HCT-116	colon:	n/a
46	chr10:51489510-51489560	HCF	heart:	n/a
47	chr10:51489510-51489560	PANC-1	pancreas:	n/a
48	chr10:51489510-51489560	H1-hESC	embryonic stem cell:	embryo
49	chr10:51489510-51489560	HRPEpiC	eye:	n/a
50	chr10:51489510-51489560	HCPEpiC	choroid plexus:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:47652235..47655869-chr10:51487775..51491801,8	MCF-7	breast:
2	chr10:51487738..51490469-chr10:51490768..51492273,2	MCF-7	breast:
3	chr10:47653740..47654385-chr10:51488816..51489933,3	MCF-7	breast:
4	chr10:47654274..47658037-chr10:51487059..51489810,4	K562	blood:
5	chr10:47652879..47654869-chr10:51487976..51491279,3	MCF-7	breast:
6	chr10:51488667..51489638-chr19:9250701..9251449,2	NB4	blood:
7	chr10:51489258..51491268-chr10:51531426..51533100,2	MCF-7	breast:
8	chr10:47654140..47654870-chr10:51488638..51489755,11	HCT-116	colon:

No data

Variant related genes	Relation type
AGAP7	TF binding region
AGAP7	CpG island
ENSG00000198250	Chromatin interaction
ENSG00000228326	Chromatin interaction
ENSG00000259942	Chromatin interaction
ENSG00000130803	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11004361	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11004455	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11005274	1.00[AMR][1000 genomes]
rs11005729	1.00[AMR][1000 genomes]
rs12246321	1.00[AMR][1000 genomes]
rs12247763	1.00[AMR][1000 genomes]
rs12249198	1.00[AMR][1000 genomes]
rs12250658	1.00[AMR][1000 genomes]
rs16914406	1.00[AMR][1000 genomes]
rs16914420	1.00[AMR][1000 genomes]
rs56301424	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59436713	1.00[AMR][1000 genomes]
rs60528425	1.00[AMR][1000 genomes]
rs74131171	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74131182	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758219	chr10:50971974-51925166	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	esv2759749	chr10:50971974-51925166	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv428232	chr10:50971974-51925166	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv895381	chr10:51094660-51515534	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv1830900	chr10:51187411-51903662	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv895383	chr10:51260747-51724915	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv895382	chr10:51330433-51515534	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1048474	chr10:51330433-51545872	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv1796295	chr10:51371074-51521245	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	esv1806057	chr10:51371074-51521245	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	esv1821612	chr10:51371074-51521245	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv1825752	chr10:51371074-51521245	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv1844388	chr10:51371074-51521245	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv427864	chr10:51371074-51521245	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv508583	chr10:51385007-51595892	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	esv1850613	chr10:51393995-51501515	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51488200-51489800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr10:51488200-51489800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr10:51488400-51489600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
4	chr10:51488400-51489800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:51488400-51489800	Active TSS	Right Atrium	heart
6	chr10:51488600-51489600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:51488600-51489600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
8	chr10:51488600-51489800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:51488600-51489800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:51488800-51489600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:51488800-51489800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr10:51488800-51489800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
13	chr10:51488800-51489800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr10:51488800-51490000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr10:51488800-51490000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr10:51488800-51490000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr10:51488800-51490000	Bivalent/Poised TSS	NHLF	lung
18	chr10:51488800-51490200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr10:51489000-51489600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:51489000-51489600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:51489000-51489600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:51489000-51489600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:51489000-51489600	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:51489000-51489600	Active TSS	Primary T cells from cord blood	blood
25	chr10:51489000-51489600	Active TSS	Primary T cells fromperipheralblood	blood
26	chr10:51489000-51489600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr10:51489000-51489600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr10:51489000-51489600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
29	chr10:51489000-51489600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr10:51489000-51489600	Bivalent Enhancer	Fetal Brain Male	brain
31	chr10:51489000-51489600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
32	chr10:51489000-51489600	Active TSS	Placenta	Placenta
33	chr10:51489000-51489600	Bivalent/Poised TSS	Fetal Stomach	stomach
34	chr10:51489000-51489600	Active TSS	Lung	lung
35	chr10:51489000-51489600	Active TSS	Pancreas	Pancrea
36	chr10:51489000-51489600	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr10:51489000-51489600	Active TSS	HSMM	muscle
38	chr10:51489000-51489600	Active TSS	HSMMtube	muscle
39	chr10:51489000-51489600	Bivalent/Poised TSS	HUVEC	blood vessel
40	chr10:51489000-51489600	Bivalent/Poised TSS	NH-A	brain
41	chr10:51489000-51489600	Bivalent/Poised TSS	NHEK	skin
42	chr10:51489000-51489800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr10:51489000-51489800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:51489000-51489800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr10:51489000-51489800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr10:51489000-51489800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr10:51489000-51489800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:51489000-51489800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:51489000-51489800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr10:51489000-51489800	Active TSS	Primary B cells from peripheral blood	blood

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