Variant report

Variant	rs61785271
Chromosome Location	chr1:70656195-70656196
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10157062	0.84[ASN][1000 genomes]
rs17131223	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17357463	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28537484	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3767209	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767210	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3767211	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41287888	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs487613	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55634563	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55782523	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55970826	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56200611	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56297507	0.92[EUR][1000 genomes]
rs61784315	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61784317	0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61784318	0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61784319	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61784320	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61785280	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61785281	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61785283	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61785284	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61785285	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61785288	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6678316	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6696040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518536	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7552694	0.87[EUR][1000 genomes]
rs7553993	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9970462	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9970998	0.82[AMR][1000 genomes];0.81[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

No data

Chromatin state (count:71 , 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	chr1:70610000-70656600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:70610000-70667800	Weak transcription	HepG2	liver
7	chr1:70610600-70669600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:70611000-70666600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:70611200-70670400	Weak transcription	Pancreas	Pancrea
10	chr1:70612400-70669000	Weak transcription	HUVEC	blood vessel
11	chr1:70613400-70658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:70613600-70657000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:70613600-70667800	Weak transcription	Brain Angular Gyrus	brain
14	chr1:70613800-70658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:70614400-70657800	Weak transcription	Fetal Kidney	kidney
16	chr1:70615000-70670000	Weak transcription	NH-A	brain
17	chr1:70615000-70670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:70623000-70656600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:70623000-70661600	Weak transcription	K562	blood
20	chr1:70629800-70669600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:70632600-70656800	Weak transcription	NHLF	lung
22	chr1:70634000-70670400	Weak transcription	Lung	lung
23	chr1:70634200-70658000	Weak transcription	Brain Germinal Matrix	brain
24	chr1:70634400-70670200	Weak transcription	Fetal Stomach	stomach
25	chr1:70634600-70656800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:70635000-70670600	Weak transcription	Aorta	Aorta
27	chr1:70635400-70656200	Weak transcription	Fetal Heart	heart
28	chr1:70638600-70661400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:70639800-70670200	Weak transcription	Placenta	Placenta
30	chr1:70643600-70656600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:70643600-70668600	Weak transcription	Fetal Brain Female	brain
32	chr1:70644000-70656400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:70644000-70668600	Weak transcription	Ovary	ovary
34	chr1:70644200-70656600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:70644400-70669600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:70644800-70669800	Weak transcription	HSMM	muscle
37	chr1:70646200-70669200	Weak transcription	Fetal Intestine Small	intestine
38	chr1:70649600-70658200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:70649600-70668600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:70649600-70668600	Weak transcription	Left Ventricle	heart
41	chr1:70649600-70670400	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:70649800-70670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:70650000-70656400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:70650000-70670400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:70650200-70669800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:70650200-70670400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:70650400-70668200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:70650600-70669400	Weak transcription	Adipose Nuclei	Adipose
49	chr1:70650600-70669800	Weak transcription	Fetal Intestine Large	intestine
50	chr1:70650600-70670200	Weak transcription	Fetal Thymus	thymus

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