Variant report

Variant	rs1975927
Chromosome Location	chr3:42815736-42815737
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11129985	1.00[ASW][hapmap]
rs2059772	1.00[AMR][1000 genomes]
rs339670	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs339674	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs339677	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs339731	0.85[LWK][hapmap];1.00[YRI][hapmap]
rs61747186	1.00[AMR][1000 genomes]
rs6769061	1.00[AMR][1000 genomes]
rs7629781	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9863144	1.00[AMR][1000 genomes]
rs9865715	1.00[ASW][hapmap]

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	nsv1013578	chr3:42747858-42817321	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv999713	chr3:42749022-42817321	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv1846968	chr3:42787469-42832979	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42813000-42821400	Weak transcription	Dnd41	blood
2	chr3:42813000-42821800	Weak transcription	HepG2	liver
3	chr3:42814600-42822200	Weak transcription	Fetal Heart	heart
4	chr3:42814800-42819200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:42814800-42823800	Weak transcription	Lung	lung
6	chr3:42814800-42824800	Weak transcription	Gastric	stomach
7	chr3:42814800-42840800	Weak transcription	Spleen	Spleen
8	chr3:42815000-42820200	Weak transcription	Pancreas	Pancrea
9	chr3:42815000-42821400	Weak transcription	Esophagus	oesophagus
10	chr3:42815000-42823200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:42815000-42824800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:42815000-42834800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:42815200-42816200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr3:42815200-42817600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:42815200-42817600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr3:42815200-42818400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:42815200-42819200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:42815200-42819400	Weak transcription	Right Atrium	heart
19	chr3:42815200-42819800	Weak transcription	HSMMtube	muscle
20	chr3:42815200-42820000	Weak transcription	Liver	Liver
21	chr3:42815200-42820000	Weak transcription	Fetal Stomach	stomach
22	chr3:42815200-42821000	Weak transcription	NHEK	skin
23	chr3:42815200-42821200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:42815200-42821400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:42815200-42821600	Weak transcription	Stomach Mucosa	stomach
26	chr3:42815200-42821600	Weak transcription	K562	blood
27	chr3:42815200-42821800	Weak transcription	Fetal Kidney	kidney
28	chr3:42815200-42822200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr3:42815200-42822200	Weak transcription	Brain Angular Gyrus	brain
30	chr3:42815200-42822600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:42815200-42822600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:42815200-42822600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:42815200-42822800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:42815200-42823000	Weak transcription	Colonic Mucosa	Colon
35	chr3:42815200-42823600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:42815200-42823600	Weak transcription	Placenta	Placenta
37	chr3:42815200-42823800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:42815200-42823800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:42815200-42823800	Weak transcription	Fetal Brain Female	brain
40	chr3:42815200-42823800	Weak transcription	Left Ventricle	heart
41	chr3:42815200-42823800	Weak transcription	GM12878-XiMat	blood
42	chr3:42815200-42823800	Weak transcription	HMEC	breast
43	chr3:42815200-42824000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr3:42815200-42824000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:42815200-42824000	Weak transcription	HSMM	muscle
46	chr3:42815200-42824200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr3:42815200-42824400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr3:42815200-42824400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:42815200-42824600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr3:42815200-42824600	Weak transcription	Duodenum Mucosa	Duodenum

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