Variant report

Variant	rs72777388
Chromosome Location	chr2:10912719-10912720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10899966..10902229-chr2:10910282..10913116,3	MCF-7	breast:
2	chr2:10902594..10905238-chr2:10911928..10914865,2	MCF-7	breast:
3	chr2:10908158..10909919-chr2:10911915..10914036,2	K562	blood:
4	chr2:10910785..10912967-chr2:10915841..10919441,3	MCF-7	breast:
5	chr2:10911679..10916866-chr2:10918103..10925152,7	K562	blood:
6	chr2:10911903..10913598-chr2:10949391..10951122,2	K562	blood:

Variant related genes	Relation type
ENSG00000143882	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1198844	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1198845	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1198846	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12464402	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464513	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12468989	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12472302	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12477285	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17365181	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17365209	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17365216	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17455708	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17456162	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1817747	0.84[ASN][1000 genomes]
rs2046793	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2306922	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3856466	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55648622	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55675740	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55906240	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55975412	0.83[EUR][1000 genomes]
rs56093996	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56140102	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56143168	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56147885	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56195743	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56260452	0.85[EUR][1000 genomes]
rs56264212	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56268818	0.85[EUR][1000 genomes]
rs66538971	0.94[EUR][1000 genomes]
rs72777378	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72777379	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72777381	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72777384	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72777393	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72779425	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72779433	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10903400-10914400	Weak transcription	Right Atrium	heart
2	chr2:10903600-10914400	Weak transcription	Gastric	stomach
3	chr2:10904200-10916400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:10904600-10916400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:10904800-10915200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:10905600-10918000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:10906000-10914200	Weak transcription	Esophagus	oesophagus
8	chr2:10906200-10918200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:10906200-10918400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:10906400-10913000	Weak transcription	Fetal Intestine Small	intestine
11	chr2:10908000-10918200	Weak transcription	Pancreas	Pancrea
12	chr2:10908000-10918400	Weak transcription	Aorta	Aorta
13	chr2:10908600-10924400	Weak transcription	Psoas Muscle	Psoas
14	chr2:10908800-10917400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:10908800-10918200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:10909000-10913400	Weak transcription	Hela-S3	cervix
17	chr2:10909200-10914800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:10909400-10914200	Weak transcription	Right Ventricle	heart
19	chr2:10910800-10917200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:10911400-10917600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:10911800-10912800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:10912200-10913200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:10912200-10914400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:10912200-10916200	Enhancers	Placenta	Placenta
25	chr2:10912200-10918200	Weak transcription	Primary B cells from cord blood	blood

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