Variant report

Variant	rs2803171
Chromosome Location	chr1:77997590-77997591
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:77997485-77997950	PFSK-1	brain:	n/a	n/a

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

Variant related genes	Relation type
AK5	TF binding region
ENSG00000036549	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17100694	0.93[AFR][1000 genomes]
rs17100781	0.82[AFR][1000 genomes]
rs17100789	0.82[AFR][1000 genomes]
rs2047167	0.85[AFR][1000 genomes]
rs2647491	0.98[AFR][1000 genomes]
rs2803137	0.98[AFR][1000 genomes]
rs2803169	0.93[AFR][1000 genomes]
rs2803170	0.91[AFR][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	chr1:77982000-77998200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:77982000-77998200	Weak transcription	Brain Angular Gyrus	brain
7	chr1:77982200-77998200	Weak transcription	Brain Anterior Caudate	brain
8	chr1:77983000-78009200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:77985200-77999400	Weak transcription	Brain Substantia Nigra	brain
10	chr1:77985400-77999800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:77988400-77999800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:77988600-77999400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:77989000-77998200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:77990400-77998200	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:77992000-77998400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:77992000-77999000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:77992000-77999200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:77992000-77999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:77992000-77999200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:77992200-77999200	Weak transcription	Primary T cells from cord blood	blood
21	chr1:77992200-77999200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:77993400-77999400	Weak transcription	HSMM	muscle
23	chr1:77994400-77997800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:77995600-77998000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:77996400-77998200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:77996400-77998200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:77996400-77998200	Weak transcription	NHDF-Ad	bronchial
28	chr1:77996600-77999600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:77996600-77999600	Weak transcription	HMEC	breast
30	chr1:77996800-77998200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:77996800-77998200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:77996800-77999800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:77996800-77999800	Weak transcription	NHEK	skin
34	chr1:77996800-78001800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:77997200-77998000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:77997400-77997800	Active TSS	Placenta	Placenta

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