Variant report

Variant	rs60641084
Chromosome Location	chr1:227430877-227430878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57358273	1.00[EUR][1000 genomes]
rs73092520	1.00[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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227386200-227433400	Weak transcription	Fetal Stomach	stomach
2	chr1:227407200-227432400	Weak transcription	Right Ventricle	heart
3	chr1:227411800-227431400	Weak transcription	Fetal Intestine Small	intestine
4	chr1:227414000-227433200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:227414000-227459200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:227414200-227433400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:227414200-227453800	Weak transcription	HSMM	muscle
8	chr1:227414400-227432400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:227414400-227432600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:227415800-227456800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:227416200-227431800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:227420800-227434600	Weak transcription	Spleen	Spleen
13	chr1:227423000-227432400	Weak transcription	Small Intestine	intestine
14	chr1:227423600-227431400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:227423600-227432000	Weak transcription	Brain Substantia Nigra	brain
16	chr1:227424800-227432600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:227424800-227440800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:227425200-227432400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:227425400-227445200	Weak transcription	Osteobl	bone
20	chr1:227426000-227432400	Weak transcription	Left Ventricle	heart
21	chr1:227427000-227432400	Weak transcription	Brain Angular Gyrus	brain
22	chr1:227427200-227433200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:227427600-227432200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:227428400-227431400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:227428400-227432600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:227429000-227431400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:227429000-227432600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:227429200-227431400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:227429600-227431600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:227429800-227431400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr1:227430400-227431000	Flanking Active TSS	Liver	Liver
32	chr1:227430400-227431000	Enhancers	A549	lung
33	chr1:227430400-227432600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:227430600-227431000	Enhancers	Right Atrium	heart
35	chr1:227430600-227431200	Weak transcription	Fetal Kidney	kidney
36	chr1:227430600-227431200	Enhancers	Stomach Mucosa	stomach
37	chr1:227430600-227431400	Enhancers	Adipose Nuclei	Adipose
38	chr1:227430600-227431600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr1:227430600-227432800	Enhancers	K562	blood
40	chr1:227430600-227433000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr1:227430600-227433400	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr1:227430600-227434000	Enhancers	Brain Anterior Caudate	brain
43	chr1:227430600-227434000	Enhancers	Pancreas	Pancrea
44	chr1:227430600-227434600	Enhancers	Fetal Heart	heart
45	chr1:227430800-227431000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr1:227430800-227431000	Enhancers	Brain Hippocampus Middle	brain
47	chr1:227430800-227431200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:227430800-227431200	Flanking Active TSS	HepG2	liver
49	chr1:227430800-227431400	Enhancers	Fetal Intestine Large	intestine
50	chr1:227430800-227431400	Weak transcription	Psoas Muscle	Psoas

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