Variant report

Variant	rs62481123
Chromosome Location	chr7:128081881-128081882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128071934..128079559-chr7:128081793..128086197,10	MCF-7	breast:
2	chr7:128080630..128083451-chr7:128085283..128088252,3	MCF-7	breast:
3	chr7:128081121..128082834-chr7:128084423..128086408,3	K562	blood:

Variant related genes	Relation type
ENSG00000228700	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1048531	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10954185	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11763326	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11764599	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11766743	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11769087	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11769168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771063	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11771514	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12532613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12540060	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12540762	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288550	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2288554	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35501542	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3793164	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55706726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57124454	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57715170	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58727049	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481099	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62481100	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62481103	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62481115	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481116	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv1801356	chr7:128073366-128084133	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr7:128051400-128086200	Weak transcription	Right Atrium	heart
2	chr7:128073800-128083800	Weak transcription	Esophagus	oesophagus
3	chr7:128075600-128083600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:128075600-128093800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:128075600-128093800	Weak transcription	Pancreas	Pancrea
6	chr7:128076000-128084000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:128076400-128083400	Weak transcription	Placenta	Placenta
8	chr7:128076400-128083600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:128076400-128084000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:128078600-128095200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:128078800-128083800	Weak transcription	GM12878-XiMat	blood
12	chr7:128079400-128083600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:128079400-128085800	Weak transcription	K562	blood
14	chr7:128079600-128083600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr7:128079600-128083800	Weak transcription	Adipose Nuclei	Adipose
16	chr7:128079600-128084200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr7:128080800-128083600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr7:128081200-128082000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:128081400-128084000	Enhancers	Duodenum Mucosa	Duodenum
20	chr7:128081400-128085200	Enhancers	Fetal Intestine Large	intestine
21	chr7:128081400-128085600	Enhancers	Fetal Intestine Small	intestine
22	chr7:128081600-128082000	Enhancers	Small Intestine	intestine
23	chr7:128081600-128082800	Enhancers	A549	lung
24	chr7:128081800-128082000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr7:128081800-128082000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr7:128081800-128082000	Enhancers	HepG2	liver

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