Variant report

Variant	rs2671272
Chromosome Location	chr1:226015116-226015117
allele	C/T
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	GATA2	chr1:226014598-226015237	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225992085..225994324-chr1:226013953..226015752,2	K562	blood:

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]
rs2854450	1.00[CEU][hapmap];0.83[GIH][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2854455	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2854459	0.83[AMR][1000 genomes];0.87[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	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	chr1:226005800-226019200	Weak transcription	NHLF	lung
6	chr1:226005800-226019400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:226005800-226019400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:226006200-226016600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:226006200-226019400	Weak transcription	HSMM	muscle
10	chr1:226006200-226022000	Weak transcription	NHDF-Ad	bronchial
11	chr1:226006400-226016800	Weak transcription	Colonic Mucosa	Colon
12	chr1:226006400-226018600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:226006400-226019400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:226006400-226019600	Weak transcription	Hela-S3	cervix
15	chr1:226006600-226016600	Weak transcription	Aorta	Aorta
16	chr1:226008800-226019400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:226009800-226015400	Enhancers	Colon Smooth Muscle	Colon
18	chr1:226010800-226015400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:226010800-226016600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:226010800-226019200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:226011000-226015200	Enhancers	Brain Hippocampus Middle	brain
22	chr1:226011000-226015800	Enhancers	Fetal Muscle Trunk	muscle
23	chr1:226011000-226015800	Genic enhancers	Fetal Muscle Leg	muscle
24	chr1:226011000-226016800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:226011200-226015600	Enhancers	K562	blood
26	chr1:226011200-226016600	Enhancers	Pancreas	Pancrea
27	chr1:226011600-226015200	Genic enhancers	Fetal Intestine Small	intestine
28	chr1:226011800-226016600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:226012000-226015400	Enhancers	Fetal Intestine Large	intestine
30	chr1:226012200-226015400	Enhancers	Spleen	Spleen
31	chr1:226012600-226016400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr1:226012600-226016600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:226012600-226016800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:226012600-226018000	Weak transcription	Fetal Brain Male	brain
35	chr1:226013400-226019200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:226013400-226019200	Weak transcription	Brain Angular Gyrus	brain
37	chr1:226013400-226031800	Weak transcription	Fetal Kidney	kidney
38	chr1:226013600-226015400	Enhancers	HepG2	liver
39	chr1:226013600-226016200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:226013600-226016400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:226013600-226016400	Weak transcription	Brain Substantia Nigra	brain
42	chr1:226013600-226016600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:226013600-226016800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:226013600-226019200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:226013600-226052600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:226013800-226015200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:226013800-226015600	Enhancers	Duodenum Mucosa	Duodenum
48	chr1:226013800-226016600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:226013800-226016800	Weak transcription	Brain Anterior Caudate	brain
50	chr1:226013800-226018000	Weak transcription	A549	lung

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