Variant report

Variant	rs72865916
Chromosome Location	chr1:10305941-10305942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10492970	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034591	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034615	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17034616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17034660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17034716	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17034766	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17034775	0.88[ASN][1000 genomes]
rs2297881	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3737154	1.00[AMR][1000 genomes]
rs3819096	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41258245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41274480	1.00[AMR][1000 genomes]
rs4329521	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57661717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57963032	1.00[AMR][1000 genomes]
rs59211028	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61508659	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72864193	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72864196	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72865913	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72865925	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865926	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72865927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865946	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72865961	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865963	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72865999	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72867415	0.88[AMR][1000 genomes]
rs72867421	0.88[AMR][1000 genomes]
rs72867431	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72867433	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72867438	1.00[AMR][1000 genomes]
rs72867441	1.00[AMR][1000 genomes]
rs72867455	1.00[AMR][1000 genomes]
rs72867467	1.00[AMR][1000 genomes]
rs72867469	1.00[AMR][1000 genomes]
rs72867481	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv999251	chr1:10276263-10318163	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10276800-10311800	Weak transcription	Hela-S3	cervix
3	chr1:10277000-10322000	Weak transcription	Spleen	Spleen
4	chr1:10284800-10311000	Weak transcription	Small Intestine	intestine
5	chr1:10285200-10316000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:10285400-10310800	Weak transcription	Aorta	Aorta
7	chr1:10285400-10312600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:10287400-10312400	Weak transcription	Pancreas	Pancrea
9	chr1:10289200-10317400	Weak transcription	Liver	Liver
10	chr1:10291000-10311800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:10291000-10311800	Weak transcription	HMEC	breast
12	chr1:10291200-10311200	Weak transcription	HUVEC	blood vessel
13	chr1:10291400-10308600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:10292400-10309400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:10293000-10322000	Weak transcription	Primary T cells from cord blood	blood
16	chr1:10293600-10311400	Weak transcription	NH-A	brain
17	chr1:10295000-10310600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:10295400-10311400	Weak transcription	Osteobl	bone
19	chr1:10295600-10312000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:10295600-10316400	Weak transcription	Placenta	Placenta
21	chr1:10295600-10317600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:10295800-10322000	Weak transcription	Lung	lung
23	chr1:10296200-10312400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:10296200-10313600	Weak transcription	Fetal Brain Female	brain
25	chr1:10296400-10309800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:10296400-10310600	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:10296400-10312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:10296400-10313200	Weak transcription	Fetal Stomach	stomach
29	chr1:10296400-10316800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:10297200-10316200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:10297200-10316200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:10297400-10309400	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:10297400-10310400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:10297400-10312400	Weak transcription	NHLF	lung
35	chr1:10297400-10316200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:10297600-10311200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:10297600-10311800	Weak transcription	HSMM	muscle
38	chr1:10297600-10311800	Weak transcription	NHDF-Ad	bronchial
39	chr1:10297600-10312400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:10297800-10307200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:10297800-10312400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:10298000-10306600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:10298000-10311400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:10298000-10312400	Weak transcription	HepG2	liver
45	chr1:10298200-10306000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:10298200-10308000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:10298200-10308600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:10298400-10312400	Weak transcription	Right Atrium	heart
49	chr1:10298600-10308600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:10299200-10308200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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