Variant report

Variant	rs7533067
Chromosome Location	chr1:70654078-70654079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70652911..70655573-chr1:70665415..70667122,3	K562	blood:
2	chr1:70630351..70632302-chr1:70652266..70654580,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10489927	0.82[CHD][hapmap]
rs10489928	0.82[CHD][hapmap]
rs12562802	0.82[CHD][hapmap]
rs12565362	0.82[CHD][hapmap]
rs12566666	0.82[CHD][hapmap]
rs1412867	0.83[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17131236	0.81[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17131238	0.83[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17131241	0.90[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17131248	0.82[CHD][hapmap]
rs2034756	0.82[CHD][hapmap]
rs2210545	0.82[CHD][hapmap]
rs2274913	0.85[CHD][hapmap]
rs2297486	0.82[CHD][hapmap]
rs34121744	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35262515	0.82[CHD][hapmap]
rs35522955	0.90[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3753817	0.82[CHD][hapmap]
rs3753818	0.81[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3767206	0.82[CHD][hapmap]
rs3767207	0.82[CHD][hapmap]
rs3767214	0.82[CHD][hapmap]
rs3920731	0.82[CHD][hapmap]
rs41488747	0.82[CHD][hapmap]
rs476591	0.83[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs522320	0.90[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs549843	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56299138	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56873377	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57098486	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs587567	0.83[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60409157	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60598073	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs610953	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61785267	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61785269	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61785270	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61785272	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs632047	0.90[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs651717	0.89[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs666163	0.83[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6664084	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6664480	0.83[CHD][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6666941	0.81[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6700543	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6702168	0.82[CHD][hapmap]
rs676753	0.83[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74085998	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[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	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv870841	chr1:70612416-70696554	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7533067	SFRS11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70606800-70661800	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:70607000-70670200	Weak transcription	Psoas Muscle	Psoas
3	chr1:70607000-70670400	Weak transcription	Small Intestine	intestine
4	chr1:70607400-70655200	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:70608800-70654800	Weak transcription	Thymus	Thymus
6	chr1:70608800-70655800	Weak transcription	Esophagus	oesophagus
7	chr1:70609600-70661200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:70610000-70656600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:70610000-70667800	Weak transcription	HepG2	liver
10	chr1:70610600-70669600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:70611000-70666600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:70611200-70670400	Weak transcription	Pancreas	Pancrea
13	chr1:70612400-70669000	Weak transcription	HUVEC	blood vessel
14	chr1:70613400-70658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:70613600-70657000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:70613600-70667800	Weak transcription	Brain Angular Gyrus	brain
17	chr1:70613800-70658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:70614400-70657800	Weak transcription	Fetal Kidney	kidney
19	chr1:70615000-70670000	Weak transcription	NH-A	brain
20	chr1:70615000-70670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:70623000-70656600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:70623000-70661600	Weak transcription	K562	blood
23	chr1:70629800-70669600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:70632600-70656800	Weak transcription	NHLF	lung
25	chr1:70634000-70670400	Weak transcription	Lung	lung
26	chr1:70634200-70658000	Weak transcription	Brain Germinal Matrix	brain
27	chr1:70634400-70670200	Weak transcription	Fetal Stomach	stomach
28	chr1:70634600-70656800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:70635000-70670600	Weak transcription	Aorta	Aorta
30	chr1:70635400-70656200	Weak transcription	Fetal Heart	heart
31	chr1:70638600-70661400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr1:70639800-70670200	Weak transcription	Placenta	Placenta
33	chr1:70643600-70656600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:70643600-70668600	Weak transcription	Fetal Brain Female	brain
35	chr1:70644000-70656400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:70644000-70668600	Weak transcription	Ovary	ovary
37	chr1:70644200-70656600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:70644400-70669600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:70644800-70669800	Weak transcription	HSMM	muscle
40	chr1:70646200-70669200	Weak transcription	Fetal Intestine Small	intestine
41	chr1:70646600-70655000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:70647000-70654200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:70649600-70658200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:70649600-70668600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:70649600-70668600	Weak transcription	Left Ventricle	heart
46	chr1:70649600-70670400	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:70649800-70670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:70650000-70656400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:70650000-70670400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr1:70650200-70669800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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