Variant report

Variant	rs2803169
Chromosome Location	chr1:77998281-77998282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77996828..77998774-chr1:78147470..78149282,2	K562	blood:

Variant related genes	Relation type
ENSG00000036549	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1135921	1.00[AMR][1000 genomes]
rs1353727	1.00[AMR][1000 genomes]
rs17100655	1.00[AMR][1000 genomes]
rs17100694	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100731	1.00[AMR][1000 genomes]
rs17100781	1.00[AMR][1000 genomes]
rs17100789	1.00[AMR][1000 genomes]
rs17100941	1.00[AMR][1000 genomes]
rs2047167	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2088519	1.00[AMR][1000 genomes]
rs2256679	1.00[AMR][1000 genomes]
rs2291689	1.00[AMR][1000 genomes]
rs2647491	0.95[AFR][1000 genomes]
rs2647495	1.00[AMR][1000 genomes]
rs2647513	1.00[AMR][1000 genomes]
rs2803137	0.95[AFR][1000 genomes]
rs2803139	1.00[AMR][1000 genomes]
rs2803154	1.00[AMR][1000 genomes]
rs2803166	1.00[AMR][1000 genomes]
rs2803167	1.00[AMR][1000 genomes]
rs2803170	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803171	0.93[AFR][1000 genomes]
rs3104462	1.00[AMR][1000 genomes]
rs3104463	1.00[AMR][1000 genomes]
rs3112830	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv871143	chr1:77955577-78031994	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1533	chr1:77990504-78036279	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3382945	chr1:77996914-77999212	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77980800-77999400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:77981800-77998400	Weak transcription	Osteobl	bone
3	chr1:77981800-77999200	Weak transcription	NHLF	lung
4	chr1:77981800-77999400	Weak transcription	HSMMtube	muscle
5	chr1:77983000-78009200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:77985200-77999400	Weak transcription	Brain Substantia Nigra	brain
7	chr1:77985400-77999800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:77988400-77999800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:77988600-77999400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:77992000-77998400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr1:77992000-77999000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:77992000-77999200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:77992000-77999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:77992000-77999200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:77992200-77999200	Weak transcription	Primary T cells from cord blood	blood
16	chr1:77992200-77999200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr1:77993400-77999400	Weak transcription	HSMM	muscle
18	chr1:77996600-77999600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:77996600-77999600	Weak transcription	HMEC	breast
20	chr1:77996800-77999800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:77996800-77999800	Weak transcription	NHEK	skin
22	chr1:77996800-78001800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:77998000-77998600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:77998000-77998600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:77998000-77998600	Enhancers	Placenta	Placenta
26	chr1:77998000-78014000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:77998200-77998600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:77998200-77998600	Enhancers	Brain Cingulate Gyrus	brain
29	chr1:77998200-77999400	Enhancers	Brain Anterior Caudate	brain
30	chr1:77998200-78000000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:77998200-78000000	Enhancers	NHDF-Ad	bronchial
32	chr1:77998200-78000200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:77998200-78000200	Enhancers	Brain Angular Gyrus	brain
34	chr1:77998200-78000400	Enhancers	Brain Hippocampus Middle	brain
35	chr1:77998200-78000600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr1:77998200-78005000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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