Variant report

Variant	rs7615927
Chromosome Location	chr3:110833307-110833308
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12185974	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1801650	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1824709	0.89[EUR][1000 genomes]
rs56324569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56724510	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58112872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61190717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6437943	0.83[EUR][1000 genomes]
rs73852384	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73852394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852401	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73852402	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854903	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854905	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73854911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854920	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73854921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854923	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73854926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854928	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854929	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7616280	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7622397	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7642664	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9844779	0.83[EUR][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	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1850918	chr3:110685181-110889974	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv591276	chr3:110822496-110854196	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv877338	chr3:110824425-110860188	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110805000-110833600	Weak transcription	NHDF-Ad	bronchial
2	chr3:110816000-110837600	Weak transcription	Fetal Stomach	stomach
3	chr3:110816000-110873800	Weak transcription	Left Ventricle	heart
4	chr3:110816000-110893400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:110817400-110855200	Weak transcription	Pancreas	Pancrea
6	chr3:110817600-110837600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:110819200-110857200	Weak transcription	NHLF	lung
8	chr3:110823400-110838000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:110823400-110838000	Weak transcription	Fetal Intestine Small	intestine
10	chr3:110826600-110845000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:110826800-110847600	Weak transcription	A549	lung
12	chr3:110826800-110884200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:110827000-110847400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:110827600-110833400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:110827600-110842200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:110827800-110849200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:110828000-110837200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:110828000-110851400	Weak transcription	Aorta	Aorta
19	chr3:110829400-110893400	Weak transcription	HUVEC	blood vessel
20	chr3:110829600-110837600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:110830400-110852800	Weak transcription	NH-A	brain
22	chr3:110830600-110854200	Weak transcription	Right Ventricle	heart
23	chr3:110830800-110836800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:110830800-110837600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:110830800-110837600	Weak transcription	Fetal Intestine Large	intestine
26	chr3:110830800-110852400	Weak transcription	Fetal Brain Male	brain
27	chr3:110830800-110853800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr3:110831000-110833400	Weak transcription	Ovary	ovary
29	chr3:110831200-110837800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr3:110831600-110844000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:110831800-110834000	Strong transcription	Dnd41	blood
32	chr3:110831800-110842200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr3:110832000-110840400	Weak transcription	HSMM	muscle
34	chr3:110832000-110840800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:110832000-110854600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr3:110832000-110854600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:110832000-110856600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr3:110832200-110833400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:110832200-110833800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:110832200-110833800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:110832200-110837200	Weak transcription	Fetal Lung	lung
42	chr3:110832200-110837400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:110832200-110840800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:110832200-110842400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:110832200-110847200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr3:110832200-110852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:110832200-110853600	Weak transcription	HSMMtube	muscle
48	chr3:110832200-110881800	Weak transcription	Small Intestine	intestine
49	chr3:110832200-110892400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:110832400-110841800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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