Variant report

Variant	rs3777580
Chromosome Location	chr6:45910464-45910465
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45908480..45910653-chr6:45930951..45933315,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1555214	0.95[LWK][hapmap];0.84[AFR][1000 genomes]
rs3777572	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3777588	0.86[AFR][1000 genomes]
rs4714890	0.83[TSI][hapmap]
rs4714891	0.92[LWK][hapmap];0.86[AFR][1000 genomes]
rs4714896	0.87[LWK][hapmap]
rs6934516	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv517891	chr6:45899823-45915088	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3777580	AP2S1	trans	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45886800-45910600	Weak transcription	Psoas Muscle	Psoas
2	chr6:45895400-45910800	Weak transcription	Placenta	Placenta
3	chr6:45898600-45914600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:45898600-45916800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:45898800-45911000	Weak transcription	Adipose Nuclei	Adipose
6	chr6:45898800-45919200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:45899000-45910600	Weak transcription	Fetal Heart	heart
8	chr6:45903000-45917200	Strong transcription	Fetal Intestine Large	intestine
9	chr6:45903400-45914400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:45905000-45911800	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr6:45907000-45916600	Weak transcription	Pancreas	Pancrea
12	chr6:45907200-45910600	Strong transcription	Left Ventricle	heart
13	chr6:45907400-45917600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:45907800-45916400	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr6:45908000-45918600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr6:45908200-45918200	Weak transcription	Colonic Mucosa	Colon
17	chr6:45908400-45910600	Weak transcription	Lung	lung
18	chr6:45908800-45913800	Weak transcription	Ovary	ovary
19	chr6:45908800-45914600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:45909000-45913200	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:45909200-45912400	Weak transcription	Spleen	Spleen
22	chr6:45909600-45910600	Weak transcription	Right Ventricle	heart
23	chr6:45909600-45910600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr6:45909600-45910600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr6:45910000-45910600	Weak transcription	Fetal Intestine Small	intestine
26	chr6:45910400-45911000	Enhancers	HUES64 Cell Line	embryonic stem cell

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