Variant report

Variant	rs36231781
Chromosome Location	chr1:226012258-226012259
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr1:226012177-226012589	H1-hESC	embryonic stem cell:	n/a	chr1:226012250-226012261
2	POLR2A	chr1:226011974-226013818	A549	lung:	n/a	n/a
3	MXI1	chr1:226012167-226012293	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
EPHX1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57267938	1.00[AFR][1000 genomes]
rs6662793	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74150521	0.96[AFR][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	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

No data

Chromatin state (count:93 , 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	chr1:226000400-226015800	Enhancers	Ovary	ovary
3	chr1:226001800-226019200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:226005600-226019400	Weak transcription	Brain Germinal Matrix	brain
5	chr1:226005800-226012400	Weak transcription	Placenta	Placenta
6	chr1:226005800-226013000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:226005800-226013400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:226005800-226019200	Weak transcription	NHLF	lung
9	chr1:226005800-226019400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:226005800-226019400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:226006200-226013200	Weak transcription	HSMMtube	muscle
12	chr1:226006200-226013600	Weak transcription	Small Intestine	intestine
13	chr1:226006200-226016600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:226006200-226019400	Weak transcription	HSMM	muscle
15	chr1:226006200-226022000	Weak transcription	NHDF-Ad	bronchial
16	chr1:226006400-226012600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:226006400-226013000	Weak transcription	Osteobl	bone
18	chr1:226006400-226014200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:226006400-226014800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:226006400-226016800	Weak transcription	Colonic Mucosa	Colon
21	chr1:226006400-226018600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:226006400-226019400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:226006400-226019600	Weak transcription	Hela-S3	cervix
24	chr1:226006600-226016600	Weak transcription	Aorta	Aorta
25	chr1:226008600-226013200	Weak transcription	Fetal Kidney	kidney
26	chr1:226008800-226013400	Weak transcription	HMEC	breast
27	chr1:226008800-226019400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:226009400-226012600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:226009400-226013400	Genic enhancers	Fetal Lung	lung
30	chr1:226009800-226015400	Enhancers	Colon Smooth Muscle	Colon
31	chr1:226010000-226012800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:226010200-226013600	Enhancers	Brain Substantia Nigra	brain
33	chr1:226010400-226015000	Enhancers	Gastric	stomach
34	chr1:226010800-226013000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:226010800-226013000	Weak transcription	Esophagus	oesophagus
36	chr1:226010800-226015400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr1:226010800-226016600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:226010800-226019200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:226011000-226012600	Enhancers	HepG2	liver
40	chr1:226011000-226013600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr1:226011000-226013800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:226011000-226014600	Enhancers	Right Atrium	heart
43	chr1:226011000-226015200	Enhancers	Brain Hippocampus Middle	brain
44	chr1:226011000-226015800	Enhancers	Fetal Muscle Trunk	muscle
45	chr1:226011000-226015800	Genic enhancers	Fetal Muscle Leg	muscle
46	chr1:226011000-226016800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:226011200-226012600	Genic enhancers	Fetal Stomach	stomach
48	chr1:226011200-226013000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:226011200-226013000	Weak transcription	A549	lung
50	chr1:226011200-226013200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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