Variant report

Variant	rs10062049
Chromosome Location	chr5:61553881-61553882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61549033..61550848-chr5:61552778..61554762,2	K562	blood:
2	chr5:61551611..61555704-chr5:61555776..61558862,4	K562	blood:
3	chr5:61553876..61556282-chr5:61576708..61578826,2	K562	blood:
4	chr5:61550007..61554674-chr5:61558868..61565665,10	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10056974	0.88[YRI][hapmap]
rs10061970	1.00[AFR][1000 genomes]
rs13180347	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv830318	chr5:61415713-61623320	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv11317	chr5:61501951-61555756	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv821303	chr5:61501951-61555756	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2755585	chr5:61535831-61618595	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10062049	SERPINA1	trans	lymphoblastoid	seeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61552400-61555600	Weak transcription	Pancreas	Pancrea
2	chr5:61552800-61554000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:61552800-61554200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:61552800-61555000	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr5:61552800-61555600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:61552800-61555600	Weak transcription	Brain Hippocampus Middle	brain
7	chr5:61552800-61555600	Weak transcription	Fetal Lung	lung
8	chr5:61552800-61555800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:61552800-61556200	Weak transcription	Adipose Nuclei	Adipose
10	chr5:61552800-61556400	Weak transcription	Fetal Thymus	thymus
11	chr5:61552800-61556600	Weak transcription	Thymus	Thymus
12	chr5:61552800-61557400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr5:61552800-61557800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr5:61553000-61554200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:61553000-61554800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:61553000-61555600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:61553000-61555600	Weak transcription	Brain Angular Gyrus	brain
18	chr5:61553000-61555800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr5:61553000-61555800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:61553000-61555800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:61553000-61556400	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:61553000-61557800	Enhancers	Primary T cells from cord blood	blood
23	chr5:61553000-61557800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr5:61553200-61554000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:61553200-61555000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:61553200-61555600	Weak transcription	K562	blood
27	chr5:61553600-61555600	Enhancers	Brain Germinal Matrix	brain
28	chr5:61553600-61557800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr5:61553800-61554000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:61553800-61555800	Weak transcription	Primary T cells fromperipheralblood	blood

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