Variant report

Variant	rs7081199
Chromosome Location	chr10:28288012-28288013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:28287251-28288059	HUVEC	blood vessel:	n/a	n/a
2	CREB1	chr10:28287324-28288110	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF263	chr10:28286875-28288164	HEK293-T-REx	kidney:	n/a	chr10:28287544-28287553
4	POLR2A	chr10:28287127-28288066	HUVEC	blood vessel:	n/a	n/a
5	SIN3A	chr10:28286975-28288232	H1-hESC	embryonic stem cell:	n/a	chr10:28287794-28287805
6	POLR2A	chr10:28287275-28288071	HCT-116	colon:	n/a	n/a
7	POLR2A	chr10:28286973-28288141	NB4	blood:	n/a	n/a
8	RAD21	chr10:28287066-28288115	H1-hESC	embryonic stem cell:	n/a	chr10:28287741-28287754
9	MAX	chr10:28287185-28288061	ECC-1	luminal epithelium:	n/a	chr10:28288020-28288030
10	MYC	chr10:28287416-28288172	NB4	blood:	n/a	chr10:28288020-28288030 chr10:28288138-28288145
11	POLR2A	chr10:28287161-28288173	HUVEC	blood vessel:	n/a	n/a
12	CTBP2	chr10:28287187-28288119	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr10:28287183-28288040	H1-hESC	embryonic stem cell:	n/a	chr10:28288020-28288030
14	TAF1	chr10:28287136-28288058	H1-hESC	embryonic stem cell:	n/a	n/a
15	KAP1	chr10:28286960-28288168	HEK293	kidney:	n/a	n/a
16	BACH1	chr10:28287456-28288113	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr10:28287167-28288036	H1-hESC	embryonic stem cell:	n/a	chr10:28288020-28288030
18	HA-E2F1	chr10:28287519-28288120	Hela-S3	cervix:	n/a	chr10:28287676-28287686
19	MYC	chr10:28287825-28288036	MCF-7	breast:	n/a	chr10:28288020-28288030
20	CHD1	chr10:28288007-28288099	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr10:28287671-28288031	Hela-S3	cervix:	n/a	n/a
22	GABPA	chr10:28287821-28288127	H1-hESC	embryonic stem cell:	n/a	chr10:28287994-28288008
23	POLR2A	chr10:28287132-28288197	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr10:28287250-28288101	HCT-116	colon:	n/a	n/a
25	TAF1	chr10:28287089-28288075	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZBTB7A	chr10:28287267-28288065	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr10:28287314-28288100	HUVEC	blood vessel:	n/a	n/a
28	HA-E2F1	chr10:28287173-28288252	MCF-7	breast:	n/a	chr10:28287676-28287686
29	POLR2A	chr10:28287086-28288164	HEK293	kidney:	n/a	n/a
30	POLR2A	chr10:28287029-28288265	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr10:28287065-28288162	Gliobla	brain:	n/a	n/a
32	POLR2A	chr10:28287325-28288080	ECC-1	luminal epithelium:	n/a	n/a
33	MAX	chr10:28287220-28288224	NB4	blood:	n/a	chr10:28288020-28288030 chr10:28288138-28288145

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:28287999-28288049	H1-hESC	embryonic stem cell:	embryo
2	chr10:28287999-28288049	NHDF-neo	bronchial:	n/a
3	chr10:28288003-28288053	MCF-7	breast:	n/a
4	chr10:28288005-28288055	HCT-116	colon:	n/a
5	chr10:28288003-28288053	RPTEC	kidney:	n/a
6	chr10:28288005-28288055	HCPEpiC	choroid plexus:	n/a
7	chr10:28287983-28288033	PrEC	prostate:	n/a
8	chr10:28287983-28288033	HRPEpiC	eye:	n/a
9	chr10:28287983-28288033	SK-N-SH	brain:	n/a
10	chr10:28287999-28288049	GM12891	blood:	n/a
11	chr10:28288003-28288053	AG09309	skin:	n/a
12	chr10:28288003-28288053	HCF	heart:	n/a
13	chr10:28288003-28288053	Jurkat	blood:	n/a
14	chr10:28288003-28288053	SKMC	muscle:	n/a
15	chr10:28288005-28288055	HL-60	blood:	n/a
16	chr10:28288005-28288055	SK-N-SH	brain:	n/a
17	chr10:28287983-28288033	HAEpiC	amniotic membrane:	n/a
18	chr10:28287983-28288033	SAEC	small airway:	n/a
19	chr10:28288003-28288053	GM19239	blood:	n/a
20	chr10:28288005-28288055	GM19239	blood:	n/a
21	chr10:28287983-28288033	PFSK-1	brain:	n/a
22	chr10:28287983-28288033	HNPCEpiC	eye:	n/a
23	chr10:28288005-28288055	SK-N-SH_RA	brain:	n/a
24	chr10:28288003-28288053	NH-A	brain:	n/a
25	chr10:28287999-28288049	GM12892	blood:	n/a
26	chr10:28288003-28288053	Caco-2	colon:	n/a
27	chr10:28288005-28288055	HAEpiC	amniotic membrane:	n/a
28	chr10:28288003-28288053	ProgFib	skin:	n/a
29	chr10:28287999-28288049	HEEpiC	esophagus:	n/a
30	chr10:28288003-28288053	SK-N-SH	brain:	n/a
31	chr10:28288005-28288055	HNPCEpiC	eye:	n/a
32	chr10:28288003-28288053	BE2_C	brain:	n/a
33	chr10:28287999-28288049	CMK	blood:	n/a
34	chr10:28287999-28288049	IMR90	lung:	fetal
35	chr10:28287983-28288033	T-47D	breast:	n/a
36	chr10:28288003-28288053	HCT-116	colon:	n/a
37	chr10:28288005-28288055	LNCaP	prostate:	n/a
38	chr10:28287999-28288049	SAEC	small airway:	n/a
39	chr10:28288003-28288053	T-47D	breast:	n/a
40	chr10:28288003-28288053	AG04449	skin:	fetal
41	chr10:28287983-28288033	HCPEpiC	choroid plexus:	n/a
42	chr10:28288003-28288053	BJ	skin:	n/a
43	chr10:28288005-28288055	HEK293	kidney:	embryo
44	chr10:28288005-28288055	U87	brain:	n/a
45	chr10:28288005-28288055	NHBE	bronchial:	n/a
46	chr10:28288003-28288053	Hela-S3	cervix:	n/a
47	chr10:28287983-28288033	H1-hESC	embryonic stem cell:	embryo
48	chr10:28288005-28288055	HCM	heart:	n/a
49	chr10:28288005-28288055	HPAEpiC	pulmonary alveolar:	n/a
50	chr10:28287999-28288049	BJ	skin:	n/a

No data

Variant related genes	Relation type
ARMC4	TF binding region
ENSG00000233472	TF binding region
ENSG00000233472	CpG island
ARMC4	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11814132	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56086075	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56335062	0.83[AMR][1000 genomes]
rs59271137	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60814150	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61344519	0.83[AMR][1000 genomes]
rs74127175	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917149	chr10:28018919-28688694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv894987	chr10:28165502-28326775	ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831815	chr10:28235661-28407533	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1052182	chr10:28259142-28361830	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28286600-28288200	Flanking Active TSS	Liver	Liver
2	chr10:28286600-28288400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:28286600-28288400	Active TSS	Stomach Smooth Muscle	stomach
4	chr10:28286600-28288600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr10:28286600-28288600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr10:28286800-28288200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr10:28286800-28288200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:28286800-28288200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:28286800-28288200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:28286800-28288200	Active TSS	Primary T cells from cord blood	blood
11	chr10:28286800-28288200	Active TSS	Brain Angular Gyrus	brain
12	chr10:28286800-28288200	Active TSS	Fetal Kidney	kidney
13	chr10:28286800-28288200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr10:28286800-28288200	Active TSS	Ovary	ovary
15	chr10:28286800-28288200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
16	chr10:28286800-28288200	Active TSS	NH-A	brain
17	chr10:28286800-28288400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr10:28286800-28288400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr10:28286800-28288400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr10:28286800-28288400	Active TSS	Primary hematopoietic stem cells	blood
21	chr10:28286800-28288400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:28286800-28288400	Active TSS	Brain Anterior Caudate	brain
23	chr10:28286800-28288400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr10:28286800-28288400	Active TSS	Fetal Brain Female	brain
25	chr10:28286800-28288400	Active TSS	Rectal Smooth Muscle	rectum
26	chr10:28287000-28288200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:28287000-28288200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr10:28287000-28288200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:28287000-28288200	Active TSS	Esophagus	oesophagus
30	chr10:28287000-28288200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
31	chr10:28287000-28288200	Active TSS	Fetal Lung	lung
32	chr10:28287000-28288200	Active TSS	Right Atrium	heart
33	chr10:28287000-28288200	Bivalent/Poised TSS	HSMM	muscle
34	chr10:28287000-28288200	Active TSS	NHDF-Ad	bronchial
35	chr10:28287000-28288200	Active TSS	NHLF	lung
36	chr10:28287000-28288400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr10:28287000-28288400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:28287000-28288400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr10:28287200-28288200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
40	chr10:28287200-28288200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
41	chr10:28287200-28288200	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr10:28287200-28288200	Active TSS	Aorta	Aorta
43	chr10:28287200-28288200	Active TSS	Psoas Muscle	Psoas
44	chr10:28287200-28288200	Active TSS	Hela-S3	cervix
45	chr10:28287200-28288200	Bivalent/Poised TSS	HSMMtube	muscle
46	chr10:28287200-28288200	Bivalent/Poised TSS	NHEK	skin
47	chr10:28287200-28288400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
48	chr10:28287200-28288400	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr10:28287200-28288600	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr10:28287400-28288200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin

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