Variant report

Variant	rs2784251
Chromosome Location	chr1:221060472-221060473
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	chr1:221059069..221061749-chr1:221063321..221065597,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2050525	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2738749	0.81[AFR][1000 genomes]
rs2738750	0.85[AFR][1000 genomes]
rs2784253	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2784255	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2784271	0.92[AMR][1000 genomes]
rs2784272	0.92[AMR][1000 genomes]
rs2784274	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2807859	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2807860	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2807863	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2807864	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2807865	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2807867	0.91[AMR][1000 genomes]
rs867027	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs868058	0.81[AFR][1000 genomes]
rs945448	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs949839	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs949840	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1798350	chr1:221020278-221069740	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221054800-221061000	Weak transcription	HSMM	muscle
2	chr1:221056000-221061000	Weak transcription	NHDF-Ad	bronchial
3	chr1:221057000-221061800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:221058200-221061200	Weak transcription	Psoas Muscle	Psoas
5	chr1:221058400-221061000	Weak transcription	Aorta	Aorta
6	chr1:221058800-221060800	Weak transcription	Pancreas	Pancrea
7	chr1:221058800-221061000	Weak transcription	Gastric	stomach
8	chr1:221059000-221060800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:221059000-221061000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:221059200-221060600	Weak transcription	Osteobl	bone
11	chr1:221059200-221061000	Weak transcription	HSMMtube	muscle
12	chr1:221059600-221060600	Enhancers	Colon Smooth Muscle	Colon
13	chr1:221059600-221060600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:221059600-221061000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr1:221059800-221060600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:221059800-221060800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr1:221060000-221060600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:221060000-221060600	ZNF genes & repeats	Spleen	Spleen
19	chr1:221060000-221061000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:221060000-221063600	Weak transcription	NHLF	lung
21	chr1:221060200-221060600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:221060200-221060600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr1:221060200-221060800	Weak transcription	Left Ventricle	heart
24	chr1:221060200-221061000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
25	chr1:221060200-221061000	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:221060200-221062000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr1:221060200-221062200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr1:221060400-221060600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
29	chr1:221060400-221060600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:221060400-221060600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
31	chr1:221060400-221060600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
32	chr1:221060400-221060800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:221060400-221060800	Enhancers	Primary B cells from cord blood	blood
34	chr1:221060400-221060800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:221060400-221060800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:221060400-221060800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:221060400-221060800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:221060400-221060800	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr1:221060400-221060800	Enhancers	Right Ventricle	heart
40	chr1:221060400-221061000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
41	chr1:221060400-221061000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:221060400-221061000	Bivalent Enhancer	Fetal Intestine Large	intestine
43	chr1:221060400-221061400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:221060400-221061400	Enhancers	Liver	Liver
45	chr1:221060400-221061800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell

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