Variant report

Variant	rs7530765
Chromosome Location	chr1:160959962-160959963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160952049..160953710-chr1:160957202..160960136,2	K562	blood:
2	chr1:160912472..160913285-chr1:160959725..160960368,3	MCF-7	breast:
3	chr1:160959131..160961760-chr1:160965672..160967249,2	K562	blood:
4	chr1:160791393..160792131-chr1:160959742..160960435,2	K562	blood:
5	chr1:160804510..160805361-chr1:160959406..160960281,2	MCF-7	breast:
6	chr1:160957625..160960589-chr1:160987961..160989680,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12030262	0.83[ASN][1000 genomes]
rs12723902	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12743772	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2243479	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2250288	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2481072	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483143	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2483144	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2483148	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28365978	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2988723	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2990700	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2990701	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2990704	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2990705	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3007156	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3007157	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4656975	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7546890	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9427367	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv548058	chr1:160925455-160989614	Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv10894	chr1:160953742-160960609	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7530765	F11R	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160948600-160968000	Weak transcription	Ovary	ovary
2	chr1:160952200-160964400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:160952200-160967000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:160953200-160966600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:160953800-160968200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:160955800-160964400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:160957200-160966800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:160957400-160967000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:160957600-160960400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:160957800-160968000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:160958200-160966600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:160958600-160960200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:160958600-160960200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:160958600-160960200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:160958600-160960200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:160958600-160960200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:160958600-160960200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:160958800-160960200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:160959600-160960600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:160959600-160960600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:160959800-160960000	Enhancers	Primary B cells from cord blood	blood
22	chr1:160959800-160960000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr1:160959800-160960000	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr1:160959800-160960000	Enhancers	Lung	lung
25	chr1:160959800-160960000	Enhancers	Pancreas	Pancrea
26	chr1:160959800-160960000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr1:160959800-160960000	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr1:160959800-160960000	Active TSS	Right Atrium	heart
29	chr1:160959800-160960000	Enhancers	Right Ventricle	heart
30	chr1:160959800-160960000	Enhancers	HUVEC	blood vessel
31	chr1:160959800-160960000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr1:160959800-160960200	Active TSS	Primary T cells from cord blood	blood
33	chr1:160959800-160960200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr1:160959800-160960200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr1:160959800-160960200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr1:160959800-160960200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr1:160959800-160960200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:160959800-160960200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:160959800-160960200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr1:160959800-160960200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:160959800-160960200	Active TSS	Duodenum Mucosa	Duodenum
42	chr1:160959800-160960200	Enhancers	Fetal Muscle Trunk	muscle
43	chr1:160959800-160960200	Enhancers	Fetal Muscle Leg	muscle
44	chr1:160959800-160960200	Enhancers	Placenta	Placenta
45	chr1:160959800-160960200	Enhancers	Left Ventricle	heart
46	chr1:160959800-160960200	Active TSS	A549	lung
47	chr1:160959800-160960200	Enhancers	Dnd41	blood
48	chr1:160959800-160960200	Active TSS	Hela-S3	cervix
49	chr1:160959800-160960200	Enhancers	HepG2	liver
50	chr1:160959800-160960200	Active TSS	K562	blood

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