Variant report

Variant	rs6801604
Chromosome Location	chr3:61594873-61594874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs4390920	1.00[AMR][1000 genomes]
rs56696131	1.00[AMR][1000 genomes]
rs57796687	1.00[AMR][1000 genomes]
rs57943064	1.00[AMR][1000 genomes]
rs57953857	1.00[AMR][1000 genomes]
rs58814661	1.00[AMR][1000 genomes]
rs60197600	1.00[AMR][1000 genomes]
rs60197976	1.00[AMR][1000 genomes]
rs60473152	1.00[AMR][1000 genomes]
rs6805288	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874738	1.00[AMR][1000 genomes]
rs72874741	1.00[AMR][1000 genomes]
rs72874744	1.00[AMR][1000 genomes]
rs72874746	1.00[AMR][1000 genomes]
rs72874749	1.00[AMR][1000 genomes]
rs72874755	1.00[AMR][1000 genomes]
rs72888670	1.00[AMR][1000 genomes]
rs72888675	1.00[AMR][1000 genomes]
rs72888676	1.00[AMR][1000 genomes]
rs72888678	1.00[AMR][1000 genomes]
rs7640772	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9878929	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432423	chr3:61100255-61606060	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv834711	chr3:61413762-61612539	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1008615	chr3:61455419-61679037	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv2756995	chr3:61569557-61636156	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	esv2759153	chr3:61569557-61636156	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv35004	chr3:61570149-61626426	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv822106	chr3:61577755-61631078	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61580400-61597800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:61581000-61609000	Weak transcription	NHEK	skin
3	chr3:61581400-61612200	Weak transcription	NHLF	lung
4	chr3:61581400-61613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:61581800-61597800	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:61582000-61599400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:61583800-61598000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:61584400-61597600	Weak transcription	Adipose Nuclei	Adipose
9	chr3:61584400-61602200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:61584600-61598000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:61584600-61598200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:61584600-61602200	Weak transcription	Ovary	ovary
13	chr3:61586400-61614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:61586600-61602200	Weak transcription	Fetal Intestine Large	intestine
15	chr3:61587000-61611400	Weak transcription	HepG2	liver
16	chr3:61587800-61602600	Weak transcription	HSMMtube	muscle
17	chr3:61587800-61602800	Weak transcription	Gastric	stomach
18	chr3:61588200-61597800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:61588200-61597800	Weak transcription	Psoas Muscle	Psoas
20	chr3:61589000-61598000	Weak transcription	Fetal Heart	heart
21	chr3:61589600-61598000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:61589800-61597600	Weak transcription	Placenta	Placenta
23	chr3:61591800-61597200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:61592000-61599000	Weak transcription	HSMM	muscle
25	chr3:61592000-61602600	Weak transcription	Fetal Intestine Small	intestine
26	chr3:61592200-61597600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:61592200-61598000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr3:61592600-61597600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:61592600-61598000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:61592800-61597800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:61592800-61602400	Weak transcription	Fetal Stomach	stomach
32	chr3:61592800-61603000	Weak transcription	Fetal Lung	lung
33	chr3:61592800-61619800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr3:61593000-61597000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr3:61593000-61597800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:61593000-61598000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr3:61593000-61601000	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:61593200-61598000	Weak transcription	Liver	Liver
39	chr3:61593600-61595400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr3:61593800-61597000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:61594000-61597600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:61594000-61598000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:61594200-61597800	Weak transcription	Aorta	Aorta
44	chr3:61594200-61597800	Weak transcription	Left Ventricle	heart
45	chr3:61594400-61597200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr3:61594400-61597600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:61594400-61597600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:61594400-61597800	Weak transcription	Lung	lung
49	chr3:61594400-61597800	Weak transcription	Right Atrium	heart
50	chr3:61594400-61598200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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