Variant report

Variant	rs61785272
Chromosome Location	chr1:70658272-70658273
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1412867	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17131236	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17131238	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17131241	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34121744	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35522955	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3753818	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs476591	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs522320	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs549843	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56299138	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56873377	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57098486	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs587567	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60409157	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60598073	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs610953	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61785267	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61785269	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61785270	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs632047	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs651717	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs666163	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6664084	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6664480	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6666941	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6700543	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs676753	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74085998	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7533067	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3363438	chr1:70655980-70675467	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61785272	SFRS11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 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	chr1:70609600-70661200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:70610000-70667800	Weak transcription	HepG2	liver
6	chr1:70610600-70669600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:70611000-70666600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:70611200-70670400	Weak transcription	Pancreas	Pancrea
9	chr1:70612400-70669000	Weak transcription	HUVEC	blood vessel
10	chr1:70613400-70658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:70613600-70667800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:70615000-70670000	Weak transcription	NH-A	brain
13	chr1:70615000-70670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:70623000-70661600	Weak transcription	K562	blood
15	chr1:70629800-70669600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:70634000-70670400	Weak transcription	Lung	lung
17	chr1:70634400-70670200	Weak transcription	Fetal Stomach	stomach
18	chr1:70635000-70670600	Weak transcription	Aorta	Aorta
19	chr1:70638600-70661400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:70639800-70670200	Weak transcription	Placenta	Placenta
21	chr1:70643600-70668600	Weak transcription	Fetal Brain Female	brain
22	chr1:70644000-70668600	Weak transcription	Ovary	ovary
23	chr1:70644400-70669600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:70644800-70669800	Weak transcription	HSMM	muscle
25	chr1:70646200-70669200	Weak transcription	Fetal Intestine Small	intestine
26	chr1:70649600-70668600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:70649600-70668600	Weak transcription	Left Ventricle	heart
28	chr1:70649600-70670400	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:70649800-70670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:70650000-70670400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:70650200-70669800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:70650200-70670400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:70650400-70668200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:70650600-70669400	Weak transcription	Adipose Nuclei	Adipose
35	chr1:70650600-70669800	Weak transcription	Fetal Intestine Large	intestine
36	chr1:70650600-70670200	Weak transcription	Fetal Thymus	thymus
37	chr1:70650800-70668400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:70651000-70667000	Weak transcription	Dnd41	blood
39	chr1:70651000-70668600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:70651400-70668800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:70651600-70659000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:70651600-70661000	Weak transcription	Liver	Liver
43	chr1:70651600-70668000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:70651600-70669400	Weak transcription	Hela-S3	cervix
45	chr1:70651600-70669600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:70651600-70669800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr1:70651800-70668600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:70651800-70668600	Weak transcription	Primary B cells from cord blood	blood
49	chr1:70651800-70669200	Weak transcription	Primary T cells from cord blood	blood
50	chr1:70651800-70670400	Weak transcription	Primary B cells from peripheral blood	blood

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