Variant report

Variant	rs1551030
Chromosome Location	chr2:182381630-182381631
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182372756..182374433-chr2:182379521..182382235,2	MCF-7	breast:
2	chr2:182377600..182382674-chr2:182385236..182387590,5	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1026402	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1026404	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10803948	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10803949	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10930970	0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11891794	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11902464	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12465604	0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12473700	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12693279	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13029478	0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1349196	0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1375492	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1466109	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs155116	0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs155120	0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs165416	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs165419	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2198727	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2198729	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2198731	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2198732	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2368211	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4666786	0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4667311	0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4667312	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4667314	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4667315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6707088	0.87[YRI][hapmap]
rs6711841	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6714695	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6735332	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6749168	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6749184	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7594317	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7607993	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs980815	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active 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 miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1014910	chr2:182375267-182544114	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv536065	chr2:182375267-182544114	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182324400-182410400	Weak transcription	NHLF	lung
2	chr2:182330000-182390200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:182331400-182382200	Weak transcription	HMEC	breast
4	chr2:182335000-182405800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr2:182336800-182382800	Weak transcription	Small Intestine	intestine
6	chr2:182338200-182383400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:182338200-182399400	Weak transcription	Colonic Mucosa	Colon
8	chr2:182338200-182406800	Strong transcription	Fetal Thymus	thymus
9	chr2:182338200-182406800	Weak transcription	Spleen	Spleen
10	chr2:182338400-182382200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:182338600-182405600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:182339400-182405600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:182347200-182399800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:182349600-182405800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:182350400-182384600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:182353800-182404200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:182355200-182383000	Strong transcription	GM12878-XiMat	blood
18	chr2:182356000-182406800	Strong transcription	Primary B cells from cord blood	blood
19	chr2:182358200-182405800	Strong transcription	Primary hematopoietic stem cells	blood
20	chr2:182359600-182391800	Weak transcription	Adipose Nuclei	Adipose
21	chr2:182361800-182398000	Weak transcription	Fetal Intestine Small	intestine
22	chr2:182364000-182399200	Weak transcription	HSMM	muscle
23	chr2:182366200-182390200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:182366400-182399600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:182375400-182381800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:182377200-182396800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:182377400-182382800	Weak transcription	Esophagus	oesophagus
28	chr2:182377600-182387000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:182378200-182390800	Weak transcription	NH-A	brain
30	chr2:182378800-182385000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:182378800-182387600	Weak transcription	NHDF-Ad	bronchial
32	chr2:182378800-182389800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:182379000-182382200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:182379400-182382400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr2:182379600-182382600	Genic enhancers	Primary T cells from cord blood	blood
36	chr2:182379600-182383000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
37	chr2:182379600-182383200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:182380000-182383000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr2:182380200-182386000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:182380200-182390000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:182380400-182382200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:182380400-182383000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr2:182380600-182382600	Genic enhancers	Dnd41	blood
44	chr2:182380600-182383000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr2:182380600-182390400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:182380800-182383200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:182381000-182382800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:182381000-182383000	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr2:182381200-182384200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:182381200-182386200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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