Variant report

Variant	rs368254083
Chromosome Location	chr1:226016429-226016430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:226016427-226016575	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226016389-226016439	SK-N-SH	brain:	n/a
2	chr1:226016389-226016439	GM12878	blood:	n/a
3	chr1:226016389-226016439	LNCaP	prostate:	n/a
4	chr1:226016389-226016439	HRPEpiC	eye:	n/a
5	chr1:226016389-226016439	HCT-116	colon:	n/a
6	chr1:226016389-226016439	AG09319	gingival:	n/a
7	chr1:226016389-226016439	HL-60	blood:	n/a
8	chr1:226016389-226016439	NHDF-neo	bronchial:	n/a
9	chr1:226016389-226016439	HRE	kidney:	n/a
10	chr1:226016389-226016439	HAEpiC	amniotic membrane:	n/a
11	chr1:226016389-226016439	GM12892	blood:	n/a
12	chr1:226016389-226016439	HCF	heart:	n/a
13	chr1:226016389-226016439	AG09309	skin:	n/a
14	chr1:226016389-226016439	BE2_C	brain:	n/a
15	chr1:226016389-226016439	HCM	heart:	n/a
16	chr1:226016389-226016439	BJ	skin:	n/a
17	chr1:226016389-226016439	ECC-1	luminal epithelium:	n/a
18	chr1:226016389-226016439	HIPEpiC	eye:	n/a
19	chr1:226016389-226016439	SKMC	muscle:	n/a
20	chr1:226016389-226016439	AG10803	skin:	n/a
21	chr1:226016389-226016439	Hepatocyte	liver:	n/a
22	chr1:226016389-226016439	MCF10A-Er-Src	breast:	n/a
23	chr1:226016389-226016439	PFSK-1	brain:	n/a
24	chr1:226016389-226016439	NB4	blood:	n/a
25	chr1:226016389-226016439	NT2-D1	testis:	n/a
26	chr1:226016389-226016439	HUVEC	blood vessel:	n/a
27	chr1:226016389-226016439	K562	blood:	n/a
28	chr1:226016389-226016439	HPAEpiC	pulmonary alveolar:	n/a
29	chr1:226016389-226016439	T-47D	breast:	n/a
30	chr1:226016389-226016439	ovcar-3	ovarian:	n/a
31	chr1:226016389-226016439	HepG2	liver:	n/a
32	chr1:226016389-226016439	PrEC	prostate:	n/a
33	chr1:226016389-226016439	HNPCEpiC	eye:	n/a
34	chr1:226016389-226016439	ProgFib	skin:	n/a
35	chr1:226016389-226016439	NHBE	bronchial:	n/a
36	chr1:226016389-226016439	HEK293	kidney:	embryo
37	chr1:226016389-226016439	AG04449	skin:	fetal
38	chr1:226016389-226016439	RPTEC	kidney:	n/a
39	chr1:226016389-226016439	HMEC	breast:	n/a
40	chr1:226016389-226016439	HEEpiC	esophagus:	n/a
41	chr1:226016389-226016439	Jurkat	blood:	n/a
42	chr1:226016389-226016439	CMK	blood:	n/a
43	chr1:226016389-226016439	HRCEpiC	kidney:	n/a
44	chr1:226016389-226016439	MCF-7	breast:	n/a
45	chr1:226016389-226016439	AoSMC	blood vessel:	n/a
46	chr1:226016389-226016439	SK-N-MC	brain:	n/a
47	chr1:226016389-226016439	GM06990	blood:	n/a
48	chr1:226016389-226016439	SK-N-SH_RA	brain:	n/a
49	chr1:226016389-226016439	GM12891	blood:	n/a
50	chr1:226016389-226016439	Caco-2	colon:	n/a

No data

Variant related genes	Relation type
EPHX1	TF binding region
EPHX1	CpG island

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS 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
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv947519	chr1:225998770-226034631	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv945328	chr1:226015604-226031170	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226000000-226019400	Weak transcription	Fetal Brain Female	brain
2	chr1:226001800-226019200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:226005600-226019400	Weak transcription	Brain Germinal Matrix	brain
4	chr1:226005800-226019200	Weak transcription	NHLF	lung
5	chr1:226005800-226019400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:226005800-226019400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr1:226006200-226016600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:226006200-226019400	Weak transcription	HSMM	muscle
9	chr1:226006200-226022000	Weak transcription	NHDF-Ad	bronchial
10	chr1:226006400-226016800	Weak transcription	Colonic Mucosa	Colon
11	chr1:226006400-226018600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:226006400-226019400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:226006400-226019600	Weak transcription	Hela-S3	cervix
14	chr1:226006600-226016600	Weak transcription	Aorta	Aorta
15	chr1:226008800-226019400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:226010800-226016600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:226010800-226019200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:226011000-226016800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:226011200-226016600	Enhancers	Pancreas	Pancrea
20	chr1:226011800-226016600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:226012600-226016600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:226012600-226016800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:226012600-226018000	Weak transcription	Fetal Brain Male	brain
24	chr1:226013400-226019200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:226013400-226019200	Weak transcription	Brain Angular Gyrus	brain
26	chr1:226013400-226031800	Weak transcription	Fetal Kidney	kidney
27	chr1:226013600-226016600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:226013600-226016800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:226013600-226019200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:226013600-226052600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:226013800-226016600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:226013800-226016800	Weak transcription	Brain Anterior Caudate	brain
33	chr1:226013800-226018000	Weak transcription	A549	lung
34	chr1:226013800-226019200	Weak transcription	Osteobl	bone
35	chr1:226013800-226019400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:226013800-226019400	Weak transcription	HSMMtube	muscle
37	chr1:226013800-226032000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:226013800-226037200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:226014000-226016800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:226014000-226032800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:226014200-226016800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:226014400-226019400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:226014400-226021200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:226014600-226016600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:226014600-226016600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:226014600-226016800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:226014600-226016800	Weak transcription	Fetal Lung	lung
48	chr1:226014600-226020000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:226014600-226022400	Weak transcription	Right Atrium	heart
50	chr1:226014600-226035600	Weak transcription	Small Intestine	intestine

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