Variant report

Variant	rs2670442
Chromosome Location	chr1:227434828-227434829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16846892	1.00[AFR][1000 genomes]
rs16847488	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1877620	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2203280	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2718221	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2813971	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs477162	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs555786	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6426567	1.00[AFR][1000 genomes];0.88[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	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr1:227414000-227459200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:227414200-227453800	Weak transcription	HSMM	muscle
3	chr1:227415800-227456800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:227424800-227440800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:227425400-227445200	Weak transcription	Osteobl	bone
6	chr1:227431600-227435400	Weak transcription	NHLF	lung
7	chr1:227431600-227486200	Weak transcription	NHDF-Ad	bronchial
8	chr1:227431800-227439200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:227431800-227443000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:227432000-227435200	Weak transcription	Fetal Brain Female	brain
11	chr1:227432000-227459200	Weak transcription	Fetal Lung	lung
12	chr1:227432200-227455400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:227432400-227435000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:227432600-227435200	Enhancers	Liver	Liver
15	chr1:227432600-227436200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:227432600-227448000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:227432800-227435400	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:227432800-227435600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:227432800-227441600	Weak transcription	Brain Angular Gyrus	brain
20	chr1:227432800-227442400	Weak transcription	K562	blood
21	chr1:227432800-227446000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:227432800-227455600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:227433000-227436600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:227433000-227438000	Weak transcription	Psoas Muscle	Psoas
25	chr1:227433000-227438400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:227433000-227441600	Weak transcription	A549	lung
27	chr1:227433000-227446000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:227433000-227446000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:227433000-227469000	Weak transcription	Aorta	Aorta
30	chr1:227433200-227452800	Weak transcription	Ovary	ovary
31	chr1:227433400-227435000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:227434000-227435600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:227434000-227435800	Weak transcription	Brain Anterior Caudate	brain
34	chr1:227434000-227442200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:227434000-227444200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:227434000-227446800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:227434000-227447000	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:227434000-227453400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:227434200-227435200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:227434200-227435200	Weak transcription	Fetal Intestine Small	intestine
41	chr1:227434200-227440200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:227434200-227440600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:227434200-227442800	Weak transcription	Fetal Stomach	stomach
44	chr1:227434200-227455400	Weak transcription	Left Ventricle	heart
45	chr1:227434200-227455400	Weak transcription	Right Ventricle	heart
46	chr1:227434200-227455800	Weak transcription	Adipose Nuclei	Adipose
47	chr1:227434400-227442800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:227434400-227443400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:227434400-227446000	Weak transcription	Brain Substantia Nigra	brain
50	chr1:227434600-227435000	Enhancers	Placenta	Placenta

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