Variant report

Variant	rs4656975
Chromosome Location	chr1:160984108-160984109
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:160976230..160985885-chr1:160986202..160992598,31	K562	blood:
2	chr1:160981897..160986145-chr1:160986279..160992389,24	K562	blood:
3	chr1:160983600..160986564-chr1:161134823..161137756,2	K562	blood:
4	chr1:160983895..160985741-chr1:161090954..161092534,2	MCF-7	breast:
5	chr1:160970728..160973725-chr1:160983798..160985762,2	K562	blood:
6	chr1:160963683..160965839-chr1:160983750..160985803,2	K562	blood:
7	chr1:160964339..160966592-chr1:160983829..160985803,2	K562	blood:
8	chr1:160982267..160985787-chr1:161006429..161009245,3	MCF-7	breast:
9	chr1:160982248..160985015-chr1:161041891..161043731,2	K562	blood:
10	chr1:160979139..160980938-chr1:160981553..160984466,3	MCF-7	breast:
11	chr1:160633216..160634752-chr1:160983475..160985241,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143224	Chromatin interaction
ENSG00000215845	Chromatin interaction
ENSG00000270149	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000158769	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12030262	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12723902	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12743772	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243479	0.83[ASN][1000 genomes]
rs2250288	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2481072	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2483143	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2483144	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2483148	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28365978	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2988723	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2990700	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2990701	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2990704	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2990705	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3007156	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3007157	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7530765	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7546890	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9427367	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4656975	F11R	cis	Thyroid	GTEx
rs4656975	F11R	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160981800-160984200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:160982400-160984800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:160982800-160984200	Genic enhancers	H1 Cell Line	embryonic stem cell
4	chr1:160982800-160984200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:160982800-160984200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr1:160982800-160984200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr1:160982800-160984200	Transcr. at gene 5' and 3'	K562	blood
8	chr1:160982800-160984400	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr1:160982800-160984400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr1:160982800-160984400	Enhancers	Fetal Heart	heart
11	chr1:160982800-160984400	Flanking Active TSS	A549	lung
12	chr1:160982800-160984400	Flanking Active TSS	GM12878-XiMat	blood
13	chr1:160982800-160984600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:160982800-160984600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:160982800-160984600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:160982800-160984600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr1:160982800-160984600	Flanking Active TSS	HepG2	liver
18	chr1:160982800-160984600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr1:160982800-160985000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr1:160983000-160984200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:160983000-160984200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:160983000-160984200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:160983000-160984200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:160983000-160984200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr1:160983000-160984200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:160983000-160984200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr1:160983000-160984200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr1:160983000-160984200	Active TSS	Brain Hippocampus Middle	brain
29	chr1:160983000-160984200	Flanking Active TSS	Fetal Lung	lung
30	chr1:160983000-160984200	Enhancers	Psoas Muscle	Psoas
31	chr1:160983000-160984200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr1:160983000-160984200	Enhancers	Hela-S3	cervix
33	chr1:160983000-160984200	Flanking Active TSS	HSMM	muscle
34	chr1:160983000-160984400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:160983000-160984400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:160983000-160984400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr1:160983000-160984400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:160983000-160984400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:160983000-160984400	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr1:160983000-160984400	Active TSS	Rectal Smooth Muscle	rectum
41	chr1:160983000-160984400	Enhancers	Right Ventricle	heart
42	chr1:160983000-160984400	Flanking Active TSS	HUVEC	blood vessel
43	chr1:160983000-160984600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:160983000-160984600	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr1:160983000-160984600	Enhancers	Left Ventricle	heart
46	chr1:160983000-160984600	Enhancers	Right Atrium	heart
47	chr1:160983000-160984800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:160983200-160984200	Active TSS	Brain Anterior Caudate	brain
49	chr1:160983200-160984200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr1:160983200-160984200	Active TSS	Pancreatic Islets	Pancreatic Islet

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