Variant report

Variant	rs2784250
Chromosome Location	chr1:221060393-221060394
allele	G/T
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: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10495155	0.89[EUR][1000 genomes]
rs11578466	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11580070	0.89[EUR][1000 genomes]
rs11588625	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1317189	0.87[AFR][1000 genomes]
rs1537804	1.00[ASN][1000 genomes]
rs1537805	1.00[ASN][1000 genomes]
rs1572384	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs2247213	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs2738751	0.97[EUR][1000 genomes]
rs2738755	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs2738756	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2784252	0.90[EUR][1000 genomes]
rs2784254	0.90[EUR][1000 genomes]
rs2784273	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs2807862	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2807866	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs3125046	0.85[EUR][1000 genomes]
rs41369048	0.87[EUR][1000 genomes]
rs4846672	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs58040980	1.00[ASN][1000 genomes]
rs60458871	0.94[ASN][1000 genomes]
rs60757003	0.88[ASN][1000 genomes]
rs6682092	1.00[ASN][1000 genomes]
rs73108360	1.00[ASN][1000 genomes]
rs949994	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs950635	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221054800-221061000	Weak transcription	HSMM	muscle
2	chr1:221055800-221060400	Weak transcription	Hela-S3	cervix
3	chr1:221056000-221061000	Weak transcription	NHDF-Ad	bronchial
4	chr1:221056200-221060400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:221056600-221060400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:221056800-221060400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:221057000-221060400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
8	chr1:221057000-221061800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:221058200-221061200	Weak transcription	Psoas Muscle	Psoas
10	chr1:221058400-221061000	Weak transcription	Aorta	Aorta
11	chr1:221058800-221060800	Weak transcription	Pancreas	Pancrea
12	chr1:221058800-221061000	Weak transcription	Gastric	stomach
13	chr1:221059000-221060800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:221059000-221061000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:221059200-221060600	Weak transcription	Osteobl	bone
16	chr1:221059200-221061000	Weak transcription	HSMMtube	muscle
17	chr1:221059400-221060400	Weak transcription	Primary B cells from cord blood	blood
18	chr1:221059600-221060600	Enhancers	Colon Smooth Muscle	Colon
19	chr1:221059600-221060600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:221059600-221061000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr1:221059800-221060600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:221059800-221060800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr1:221060000-221060400	Weak transcription	Liver	Liver
24	chr1:221060000-221060400	Weak transcription	Right Ventricle	heart
25	chr1:221060000-221060600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:221060000-221060600	ZNF genes & repeats	Spleen	Spleen
27	chr1:221060000-221061000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:221060000-221063600	Weak transcription	NHLF	lung
29	chr1:221060200-221060400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:221060200-221060400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
31	chr1:221060200-221060600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:221060200-221060600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr1:221060200-221060800	Weak transcription	Left Ventricle	heart
34	chr1:221060200-221061000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
35	chr1:221060200-221061000	Enhancers	Rectal Smooth Muscle	rectum
36	chr1:221060200-221062000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr1:221060200-221062200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell

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