Variant report

Variant	rs72756538
Chromosome Location	chr1:227053206-227053207
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	chr1:227051915..227054203-chr1:227056473..227058361,2	K562	blood:

Variant related genes	Relation type
ENSG00000143801	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72754599	1.00[AMR][1000 genomes]
rs72756533	1.00[AMR][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:43 , 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	chr1:227050400-227053600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:227050400-227053800	Enhancers	NHLF	lung
4	chr1:227050800-227053400	Enhancers	A549	lung
5	chr1:227051000-227053600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:227051600-227053400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:227051600-227053600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:227051600-227053600	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:227051600-227054200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:227051600-227055200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:227051600-227057800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:227051600-227057800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:227051600-227057800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:227051800-227053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:227051800-227053400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:227051800-227053600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:227051800-227053800	Enhancers	Liver	Liver
18	chr1:227051800-227054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:227051800-227055200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:227051800-227055400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:227051800-227057800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:227051800-227057800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:227051800-227057800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:227051800-227057800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:227051800-227057800	Weak transcription	Osteobl	bone
26	chr1:227052000-227053400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:227052000-227053400	Weak transcription	HMEC	breast
28	chr1:227052000-227053400	Weak transcription	NHEK	skin
29	chr1:227052000-227053600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:227052000-227054600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:227052000-227054800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:227052000-227055200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:227052000-227057800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:227052200-227053800	Enhancers	NHDF-Ad	bronchial
35	chr1:227052200-227054800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:227052200-227057800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:227052400-227053400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:227052400-227057800	Weak transcription	Pancreas	Pancrea
39	chr1:227052800-227053400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:227052800-227053800	Enhancers	Hela-S3	cervix
41	chr1:227053000-227053800	Enhancers	HepG2	liver
42	chr1:227053000-227057800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:227053200-227053600	Enhancers	Fetal Intestine Small	intestine

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