Variant report

Variant	rs2803141
Chromosome Location	chr1:77903366-77903367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2351033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2647507	1.00[AMR][1000 genomes]
rs2647523	1.00[AMR][1000 genomes]
rs2803150	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803161	1.00[AMR][1000 genomes]
rs2803163	1.00[AMR][1000 genomes]
rs2803164	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1848735	chr1:77885282-77918347	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv871605	chr1:77889505-77918347	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv521371	chr1:77899640-77912969	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77872200-77913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:77893800-77903600	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:77894200-77905200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:77894200-77912400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:77894200-77912600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:77897000-77903400	Weak transcription	HSMMtube	muscle
7	chr1:77897800-77903400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:77899200-77903400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:77900200-77913600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:77900800-77904800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr1:77901200-77903400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:77901200-77904200	Enhancers	Primary T cells from cord blood	blood
13	chr1:77901400-77903800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:77901400-77904200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:77901400-77904200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:77902200-77904000	Enhancers	NHDF-Ad	bronchial
17	chr1:77902400-77903800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:77902400-77904000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:77902400-77904200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr1:77902600-77903400	Active TSS	A549	lung
21	chr1:77902600-77903800	Enhancers	Brain Angular Gyrus	brain
22	chr1:77902600-77903800	Enhancers	Osteobl	bone
23	chr1:77902600-77904000	Enhancers	Rectal Smooth Muscle	rectum
24	chr1:77902600-77904200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr1:77902600-77904400	Active TSS	NHLF	lung
26	chr1:77902800-77904200	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:77902800-77904400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:77903000-77903800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr1:77903000-77904000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:77903000-77904200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:77903200-77903400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:77903200-77903800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:77903200-77903800	Enhancers	HUVEC	blood vessel
34	chr1:77903200-77904400	Enhancers	Colon Smooth Muscle	Colon
35	chr1:77903200-77904400	Enhancers	Stomach Mucosa	stomach
36	chr1:77903200-77904600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:77903200-77904600	Enhancers	HSMM	muscle

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