Variant report

Variant	rs59889518
Chromosome Location	chr10:90712731-90712732
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr10:90711071-90712847	SK-N-SH	brain:	n/a	chr10:90711843-90711853
2	NFIC	chr10:90710905-90713115	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr10:90711030-90713187	SK-N-SH	brain:	n/a	chr10:90711843-90711853
4	TEAD4	chr10:90712258-90713142	SK-N-SH	brain:	n/a	chr10:90712844-90712853
5	GATA3	chr10:90711067-90713150	SK-N-SH	brain:	n/a	chr10:90711352-90711359 chr10:90711196-90711207
6	POLR2A	chr10:90710408-90713000	IMR90	lung:	n/a	n/a
7	EP300	chr10:90710687-90713210	SK-N-SH	brain:	n/a	chr10:90711780-90711796 chr10:90713137-90713146 chr10:90712212-90712222
8	POLR2A	chr10:90712731-90712733	ProgFib	skin:	n/a	n/a
9	POLR2A	chr10:90712177-90713019	SK-N-SH	brain:	n/a	n/a
10	PBX3	chr10:90712119-90713017	SK-N-SH	brain:	n/a	n/a
11	TEAD4	chr10:90712472-90713075	ECC-1	luminal epithelium:	n/a	chr10:90712844-90712853
12	MXI1	chr10:90709732-90713179	SK-N-SH	brain:	n/a	n/a
13	PBX3	chr10:90712193-90713056	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:90712684-90712734	HRPEpiC	eye:	n/a
2	chr10:90712684-90712734	NHBE	bronchial:	n/a
3	chr10:90712684-90712734	PANC-1	pancreas:	n/a
4	chr10:90712684-90712734	HIPEpiC	eye:	n/a
5	chr10:90712684-90712734	SK-N-MC	brain:	n/a
6	chr10:90712684-90712734	HCF	heart:	n/a
7	chr10:90712684-90712734	GM19239	blood:	n/a
8	chr10:90712684-90712734	SK-N-SH_RA	brain:	n/a
9	chr10:90712684-90712734	SAEC	small airway:	n/a
10	chr10:90712684-90712734	SK-N-SH	brain:	n/a
11	chr10:90712684-90712734	HNPCEpiC	eye:	n/a
12	chr10:90712684-90712734	HEEpiC	esophagus:	n/a
13	chr10:90712684-90712734	AG09319	gingival:	n/a
14	chr10:90712684-90712734	AG09309	skin:	n/a
15	chr10:90712684-90712734	A549	lung:	n/a
16	chr10:90712684-90712734	PFSK-1	brain:	n/a
17	chr10:90712684-90712734	T-47D	breast:	n/a
18	chr10:90712684-90712734	AG04450	lung:	fetal
19	chr10:90712684-90712734	HMEC	breast:	n/a
20	chr10:90712684-90712734	HRE	kidney:	n/a
21	chr10:90712684-90712734	HEK293	kidney:	embryo
22	chr10:90712684-90712734	PrEC	prostate:	n/a
23	chr10:90712684-90712734	HAEpiC	amniotic membrane:	n/a
24	chr10:90712684-90712734	AoSMC	blood vessel:	n/a
25	chr10:90712684-90712734	HL-60	blood:	n/a
26	chr10:90712684-90712734	BE2_C	brain:	n/a
27	chr10:90712684-90712734	Caco-2	colon:	n/a
28	chr10:90712684-90712734	HPAEpiC	pulmonary alveolar:	n/a
29	chr10:90712684-90712734	U87	brain:	n/a
30	chr10:90712684-90712734	Jurkat	blood:	n/a
31	chr10:90712684-90712734	RPTEC	kidney:	n/a
32	chr10:90712684-90712734	ECC-1	luminal epithelium:	n/a
33	chr10:90712684-90712734	GM12891	blood:	n/a
34	chr10:90712684-90712734	HCM	heart:	n/a
35	chr10:90712684-90712734	CMK	blood:	n/a
36	chr10:90712684-90712734	MCF10A-Er-Src	breast:	n/a
37	chr10:90712684-90712734	ovcar-3	ovarian:	n/a
38	chr10:90712684-90712734	GM06990	blood:	n/a
39	chr10:90712684-90712734	Hepatocyte	liver:	n/a
40	chr10:90712684-90712734	IMR90	lung:	fetal
41	chr10:90712684-90712734	K562	blood:	n/a
42	chr10:90712684-90712734	HRCEpiC	kidney:	n/a
43	chr10:90712684-90712734	BJ	skin:	n/a
44	chr10:90712684-90712734	NT2-D1	testis:	n/a
45	chr10:90712684-90712734	H1-hESC	embryonic stem cell:	embryo
46	chr10:90712684-90712734	LNCaP	prostate:	n/a
47	chr10:90712684-90712734	NH-A	brain:	n/a
48	chr10:90712684-90712734	GM12892	blood:	n/a
49	chr10:90712684-90712734	GM12878	blood:	n/a
50	chr10:90712684-90712734	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90697471..90699634-chr10:90711409..90714221,2	K562	blood:

No data

Variant related genes	Relation type
ACTA2	TF binding region
ACTA2	CpG island
ENSG00000180139	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11202875	0.91[EUR][1000 genomes]
rs12242191	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17096285	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17114120	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147416	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41284112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45473701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59597720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6586153	0.91[EUR][1000 genomes]
rs7077849	1.00[EUR][1000 genomes]
rs7077956	1.00[EUR][1000 genomes]
rs74147301	0.91[EUR][1000 genomes]
rs74147448	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7904718	0.91[EUR][1000 genomes]
rs7906786	0.91[EUR][1000 genomes]
rs7908124	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv831942	chr10:90564697-90730352	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90695800-90720800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr10:90699000-90724200	Weak transcription	Small Intestine	intestine
3	chr10:90699400-90715400	Weak transcription	HepG2	liver
4	chr10:90699600-90721800	Weak transcription	Fetal Thymus	thymus
5	chr10:90701400-90720800	Weak transcription	Primary T cells from cord blood	blood
6	chr10:90704000-90721400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr10:90705000-90721800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr10:90705800-90712800	Weak transcription	Primary B cells from cord blood	blood
9	chr10:90707000-90713200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr10:90708400-90713000	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr10:90708800-90712800	Active TSS	Fetal Intestine Small	intestine
12	chr10:90708800-90713600	Active TSS	Stomach Smooth Muscle	stomach
13	chr10:90709000-90713200	Active TSS	Aorta	Aorta
14	chr10:90709200-90712800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr10:90709600-90713000	Flanking Active TSS	Osteobl	bone
16	chr10:90709800-90712800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:90710000-90712800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr10:90710000-90713000	Active TSS	Ovary	ovary
19	chr10:90710200-90712800	Flanking Active TSS	HSMM	muscle
20	chr10:90710200-90713000	Flanking Active TSS	Fetal Lung	lung
21	chr10:90710400-90713000	Flanking Active TSS	Fetal Heart	heart
22	chr10:90710800-90712800	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr10:90710800-90713000	Active TSS	Brain Hippocampus Middle	brain
24	chr10:90711200-90713200	Enhancers	Brain Germinal Matrix	brain
25	chr10:90711400-90712800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr10:90711400-90713200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:90711600-90712800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr10:90711600-90712800	Flanking Active TSS	NHLF	lung
29	chr10:90711800-90712800	Active TSS	Right Atrium	heart
30	chr10:90711800-90713000	Flanking Active TSS	NHDF-Ad	bronchial
31	chr10:90711800-90713200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:90711800-90713200	Flanking Active TSS	Fetal Stomach	stomach
33	chr10:90711800-90713200	Weak transcription	Spleen	Spleen
34	chr10:90712000-90713200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:90712200-90712800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:90712200-90712800	Enhancers	Fetal Brain Male	brain
37	chr10:90712200-90713000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr10:90712200-90713000	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr10:90712200-90713400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr10:90712200-90713600	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr10:90712400-90712800	Active TSS	Fetal Kidney	kidney
42	chr10:90712400-90713000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr10:90712400-90713200	Active TSS	Adipose Nuclei	Adipose
44	chr10:90712400-90713400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr10:90712400-90713400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr10:90712400-90713400	Flanking Active TSS	HSMMtube	muscle
47	chr10:90712600-90712800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr10:90712600-90712800	Flanking Active TSS	NH-A	brain
49	chr10:90712600-90713000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:90712600-90713000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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