Variant report

Variant	rs57318085
Chromosome Location	chr1:227054806-227054807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227045661..227048469-chr1:227054532..227056179,2	K562	blood:

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

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

rs_ID	r²[population]
rs58062683	1.00[AMR][1000 genomes]
rs7536451	0.87[AFR][1000 genomes]
rs7555710	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4766	chr1:227025954-227070961	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3381082	chr1:227029266-227059927	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227045200-227057800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:227051600-227055200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:227051600-227057800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:227051600-227057800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:227051600-227057800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:227051800-227055200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:227051800-227055400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:227051800-227057800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:227051800-227057800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:227051800-227057800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:227051800-227057800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:227051800-227057800	Weak transcription	Osteobl	bone
13	chr1:227052000-227055200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:227052000-227057800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:227052200-227057800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:227052400-227057800	Weak transcription	Pancreas	Pancrea
17	chr1:227053000-227057800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:227053400-227055600	Enhancers	NHEK	skin
19	chr1:227053400-227057800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:227053600-227055200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:227053600-227057600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:227053600-227057800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:227053600-227057800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:227053800-227055200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:227053800-227055200	Weak transcription	Hela-S3	cervix
26	chr1:227053800-227055400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:227053800-227057800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:227053800-227057800	Weak transcription	Liver	Liver
29	chr1:227053800-227057800	Weak transcription	NHDF-Ad	bronchial
30	chr1:227053800-227057800	Weak transcription	NHLF	lung
31	chr1:227053800-227058000	Weak transcription	Gastric	stomach
32	chr1:227054200-227057800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:227054200-227057800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:227054200-227057800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:227054200-227057800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:227054400-227055200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:227054400-227055200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:227054400-227057800	Weak transcription	Right Atrium	heart
39	chr1:227054600-227055000	Weak transcription	HMEC	breast
40	chr1:227054600-227055600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:227054800-227055600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:227054800-227055800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr1:227054800-227055800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:227054800-227056000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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