Variant report

Variant	rs57892813
Chromosome Location	chr1:227940119-227940120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227920692..227923147-chr1:227939494..227942102,2	MCF-7	breast:
2	chr1:227927986..227930376-chr1:227939048..227940998,2	K562	blood:
3	chr1:227938992..227942354-chr1:227946217..227950282,3	K562	blood:

Variant related genes	Relation type
ENSG00000143740	Chromatin interaction
ENSG00000081692	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12064596	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2093611	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236358	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273938	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61521615	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674275	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688900	0.80[AMR][1000 genomes]
rs66969031	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67502955	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72632835	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72632836	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv515496	chr1:227912474-227967938	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv468238	chr1:227935762-228045748	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS 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	9 gene(s)	inside rSNPs	diseases
10	nsv549272	chr1:227935762-228045748	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227924200-227940800	Weak transcription	HSMMtube	muscle
2	chr1:227924200-227941200	Weak transcription	HSMM	muscle
3	chr1:227924200-227941200	Weak transcription	NHDF-Ad	bronchial
4	chr1:227924200-227941600	Weak transcription	Osteobl	bone
5	chr1:227924200-227942000	Weak transcription	Hela-S3	cervix
6	chr1:227924200-227946800	Weak transcription	HUVEC	blood vessel
7	chr1:227924200-227955000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:227924800-227941400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:227925000-227941400	Weak transcription	Fetal Brain Male	brain
10	chr1:227925200-227941200	Weak transcription	Psoas Muscle	Psoas
11	chr1:227925600-227941800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:227928600-227941200	Weak transcription	Small Intestine	intestine
13	chr1:227930200-227945600	Weak transcription	NH-A	brain
14	chr1:227932800-227941400	Weak transcription	Stomach Mucosa	stomach
15	chr1:227932800-227947200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:227933000-227946400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr1:227934000-227940200	Strong transcription	Thymus	Thymus
18	chr1:227934000-227941400	Strong transcription	Fetal Brain Female	brain
19	chr1:227934000-227948800	Strong transcription	Primary T cells from cord blood	blood
20	chr1:227934200-227945400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:227934400-227950000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:227934600-227942600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:227934600-227942800	Strong transcription	Brain Germinal Matrix	brain
24	chr1:227934800-227941200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:227934800-227943200	Strong transcription	Fetal Intestine Large	intestine
26	chr1:227934800-227950200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:227934800-227950400	Strong transcription	Fetal Intestine Small	intestine
28	chr1:227935000-227942600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:227935000-227949600	Strong transcription	Dnd41	blood
30	chr1:227935200-227949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:227935400-227940400	Strong transcription	Fetal Muscle Leg	muscle
32	chr1:227935400-227941800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:227935600-227940800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:227935600-227942600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:227936400-227941200	Strong transcription	Lung	lung
36	chr1:227936400-227941800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:227936400-227944400	Weak transcription	Aorta	Aorta
38	chr1:227936400-227946200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:227936400-227946600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:227936600-227941600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:227936600-227945000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:227936600-227945000	Weak transcription	Fetal Kidney	kidney
43	chr1:227936800-227941200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:227936800-227942600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:227937000-227941400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:227937000-227943400	Weak transcription	Fetal Lung	lung
47	chr1:227937200-227941400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:227937200-227949600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:227937400-227941200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:227937400-227941200	Weak transcription	Brain Angular Gyrus	brain

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