Variant report

Variant	rs72777378
Chromosome Location	chr2:10905591-10905592
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	chr2:10905117..10907508-chr2:10909439..10912391,2	K562	blood:
2	chr2:10897105..10899038-chr2:10904110..10905856,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272275	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1198844	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1198845	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1198846	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12464402	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12464513	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12468989	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12477285	0.97[ASN][1000 genomes]
rs2046793	0.81[ASN][1000 genomes]
rs55906240	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56195743	0.85[ASN][1000 genomes]
rs72777379	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72777381	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72777384	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72777388	0.81[AMR][1000 genomes];0.88[ASN][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	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	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	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
5	esv3427047	chr2:10900130-10906802	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10897800-10906400	Enhancers	Placenta	Placenta
2	chr2:10899800-10908200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:10903400-10908200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:10903400-10908200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:10903400-10914400	Weak transcription	Right Atrium	heart
6	chr2:10903600-10908200	Weak transcription	Right Ventricle	heart
7	chr2:10903600-10914400	Weak transcription	Gastric	stomach
8	chr2:10903800-10905600	Weak transcription	Lung	lung
9	chr2:10904200-10916400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:10904400-10908200	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:10904600-10905800	Weak transcription	Spleen	Spleen
12	chr2:10904600-10916400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:10904800-10915200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:10905000-10906400	Enhancers	Fetal Intestine Large	intestine
15	chr2:10905200-10905600	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr2:10905200-10906200	Enhancers	Duodenum Mucosa	Duodenum
17	chr2:10905200-10906400	Enhancers	Fetal Intestine Small	intestine
18	chr2:10905400-10905600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:10905400-10905600	Enhancers	Colonic Mucosa	Colon
20	chr2:10905400-10905600	Enhancers	Stomach Mucosa	stomach
21	chr2:10905400-10905600	Flanking Active TSS	Hela-S3	cervix
22	chr2:10905400-10906000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:10905400-10906000	Enhancers	Esophagus	oesophagus
24	chr2:10905400-10906200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:10905400-10906200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr2:10905400-10906200	Enhancers	Sigmoid Colon	Sigmoid Colon

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