Variant report

Variant	rs61849047
Chromosome Location	chr1:225936466-225936467
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10915869	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10915871	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10915872	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10915874	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10915875	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12021669	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12021809	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12023140	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12023203	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12025075	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12025085	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12025267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12026657	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12029847	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12031637	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12032511	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12034342	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12038476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12039184	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12042000	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12042778	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12044217	0.94[ASN][1000 genomes]
rs12047520	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12048908	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12562612	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1849685	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2078389	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs3738035	1.00[AFR][1000 genomes]
rs3753650	1.00[AFR][1000 genomes]
rs4557929	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61849043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61849046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61850655	0.80[AMR][1000 genomes]
rs61851667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs716966	1.00[AFR][1000 genomes];0.85[EUR][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	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225925400-225938200	Weak transcription	Spleen	Spleen
2	chr1:225925800-225938000	Weak transcription	Lung	lung
3	chr1:225932800-225938000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:225934600-225938600	Weak transcription	Gastric	stomach
5	chr1:225934800-225936600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:225934800-225936600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:225934800-225936600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:225934800-225936600	Enhancers	Adipose Nuclei	Adipose
9	chr1:225934800-225936600	Enhancers	Fetal Muscle Trunk	muscle
10	chr1:225934800-225936600	Enhancers	Fetal Muscle Leg	muscle
11	chr1:225934800-225936600	Enhancers	Osteobl	bone
12	chr1:225934800-225936800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:225934800-225938000	Weak transcription	Ovary	ovary
14	chr1:225934800-225938200	Weak transcription	Psoas Muscle	Psoas
15	chr1:225934800-225938400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:225934800-225938800	Weak transcription	Fetal Kidney	kidney
17	chr1:225934800-225939400	Weak transcription	Fetal Brain Female	brain
18	chr1:225934800-225943200	Weak transcription	Brain Angular Gyrus	brain
19	chr1:225935000-225936600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:225935000-225936800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:225935000-225937600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:225935000-225938000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:225935000-225938000	Weak transcription	Placenta	Placenta
24	chr1:225935000-225938000	Weak transcription	HSMM	muscle
25	chr1:225935000-225938200	Weak transcription	Small Intestine	intestine
26	chr1:225935000-225938800	Weak transcription	Brain Germinal Matrix	brain
27	chr1:225935000-225941000	Weak transcription	Hela-S3	cervix
28	chr1:225935000-225949600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:225935200-225938000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:225935200-225938000	Weak transcription	Right Ventricle	heart
31	chr1:225935200-225942800	Weak transcription	Fetal Intestine Large	intestine
32	chr1:225935600-225936600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:225935600-225937400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:225935600-225937800	Weak transcription	Fetal Stomach	stomach
35	chr1:225935600-225938000	Weak transcription	Right Atrium	heart
36	chr1:225935600-225938200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:225935600-225938800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:225935600-225939200	Weak transcription	Stomach Mucosa	stomach
39	chr1:225935600-225941000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:225935600-225942600	Weak transcription	Fetal Thymus	thymus
41	chr1:225935600-225942600	Weak transcription	Pancreas	Pancrea
42	chr1:225935800-225936600	Enhancers	HMEC	breast
43	chr1:225935800-225937600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:225935800-225938000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:225935800-225938000	Weak transcription	Left Ventricle	heart
46	chr1:225935800-225938600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:225935800-225942800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:225936000-225937400	Weak transcription	HepG2	liver
49	chr1:225936000-225937600	Weak transcription	Colon Smooth Muscle	Colon
50	chr1:225936000-225938800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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