Variant report

Variant	rs2271544
Chromosome Location	chr1:226061956-226061957
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226049145..226051131-chr1:226061319..226063301,2	K562	blood:
2	chr1:226061743..226065093-chr1:226081244..226084907,3	MCF-7	breast:
3	chr1:226060392..226063729-chr1:226110650..226113605,4	MCF-7	breast:
4	chr1:225965027..225967468-chr1:226061638..226063169,2	MCF-7	breast:
5	chr1:226060345..226063874-chr1:226111222..226114417,3	MCF-7	breast:
6	chr1:226061864..226068048-chr1:226072871..226078674,7	MCF-7	breast:
7	chr1:225997823..225999430-chr1:226061686..226063547,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143819	Chromatin interaction
ENSG00000243709	Chromatin interaction
ENSG00000143742	Chromatin interaction
ENSG00000143811	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10047091	0.95[EUR][1000 genomes]
rs12061043	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12071072	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12071104	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12074209	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12074247	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12075664	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2236143	0.92[EUR][1000 genomes]
rs2292556	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292559	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2292560	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2292561	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292568	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28384446	0.97[EUR][1000 genomes]
rs28384447	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28384448	1.00[EUR][1000 genomes]
rs28384449	1.00[EUR][1000 genomes]
rs360084	0.97[ASN][1000 genomes]
rs360087	0.97[ASN][1000 genomes]
rs360089	0.97[ASN][1000 genomes]
rs3738050	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3738051	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3753663	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3753666	0.97[EUR][1000 genomes]
rs3753668	0.95[EUR][1000 genomes]
rs3753670	0.95[EUR][1000 genomes]
rs3766935	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3766936	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3766937	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3766940	1.00[EUR][1000 genomes]
rs3766941	0.95[EUR][1000 genomes]
rs3806257	0.95[EUR][1000 genomes]
rs3806258	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41310561	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4149227	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4149228	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4149230	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs45467394	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56231004	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56301120	0.96[ASN][1000 genomes]
rs56325807	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57095220	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57932384	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59728172	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60847271	1.00[EUR][1000 genomes]
rs60943392	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61033712	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61227102	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61295362	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6664740	0.95[EUR][1000 genomes]
rs74150536	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7514448	0.95[EUR][1000 genomes]
rs7516538	0.95[EUR][1000 genomes]
rs805179	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv520628	chr1:226026406-226093362	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226033800-226067400	Strong transcription	H9 Cell Line	embryonic stem cell
2	chr1:226034000-226063000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:226034200-226062800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:226036600-226064600	Weak transcription	Fetal Heart	heart
5	chr1:226036800-226066600	Weak transcription	Fetal Brain Male	brain
6	chr1:226037800-226065200	Weak transcription	Right Atrium	heart
7	chr1:226038800-226065800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:226039000-226063200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:226039200-226064600	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:226039600-226062200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:226039600-226063000	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:226041400-226064600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:226044400-226062800	Strong transcription	Duodenum Mucosa	Duodenum
14	chr1:226044600-226065800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:226046200-226063000	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:226047600-226063200	Strong transcription	Left Ventricle	heart
17	chr1:226048400-226062600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:226050200-226068600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:226051800-226066400	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr1:226052600-226064200	Strong transcription	Right Ventricle	heart
21	chr1:226053200-226062000	Strong transcription	Fetal Intestine Large	intestine
22	chr1:226053200-226063600	Strong transcription	Ovary	ovary
23	chr1:226053400-226062200	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr1:226053600-226062600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr1:226053600-226062800	Strong transcription	Fetal Intestine Small	intestine
26	chr1:226054000-226065000	Strong transcription	Stomach Smooth Muscle	stomach
27	chr1:226054200-226063800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:226054200-226064800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:226054400-226065000	Strong transcription	Lung	lung
30	chr1:226054400-226065600	Strong transcription	Fetal Stomach	stomach
31	chr1:226054400-226065800	Weak transcription	HUVEC	blood vessel
32	chr1:226054600-226063400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr1:226054600-226065200	Strong transcription	Spleen	Spleen
34	chr1:226054600-226065800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr1:226054800-226063400	Strong transcription	GM12878-XiMat	blood
36	chr1:226054800-226065800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr1:226055000-226062800	Strong transcription	Thymus	Thymus
38	chr1:226055000-226064200	Strong transcription	Primary B cells from cord blood	blood
39	chr1:226055000-226065000	Weak transcription	Psoas Muscle	Psoas
40	chr1:226055000-226065400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:226055000-226065600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr1:226055000-226066600	Weak transcription	Dnd41	blood
43	chr1:226055200-226065000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:226055200-226065400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:226055800-226062800	Strong transcription	Fetal Thymus	thymus
46	chr1:226055800-226063200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:226056200-226062800	Weak transcription	Small Intestine	intestine
48	chr1:226056200-226065200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:226056800-226063000	Strong transcription	Fetal Muscle Leg	muscle
50	chr1:226057000-226062800	Strong transcription	Primary T cells from cord blood	blood

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