Variant report

Variant	rs10916083
Chromosome Location	chr1:227265925-227265926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227263840..227266585-chr1:227275633..227278048,3	K562	blood:
2	chr1:227259571..227263475-chr1:227264453..227268699,4	K562	blood:
3	chr1:227259676..227262107-chr1:227264453..227267335,2	K562	blood:

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1007574	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10495260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495267	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10799383	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10799384	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10799391	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10799396	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10799397	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10916084	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916085	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916086	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10916089	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10916090	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10916092	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10916097	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12026688	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12031609	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12035986	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12036915	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12044287	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12047828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073220	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12125514	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12129006	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12135061	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12140758	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141869	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12144369	0.85[AFR][1000 genomes]
rs12563165	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565056	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12742066	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1304324	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1320490	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1464079	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1913344	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1929868	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1929869	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34708504	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4512610	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4653797	0.81[EUR][1000 genomes]
rs56260717	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6662443	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6674641	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6682849	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684284	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6684433	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6685954	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750172	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7529970	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9887962	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1011654	chr1:227196502-227308416	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1014423	chr1:227201253-227268843	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv832792	chr1:227211378-227364992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1012482	chr1:227212024-227271750	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv873239	chr1:227222125-227361072	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv468227	chr1:227223736-227340790	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv549269	chr1:227223736-227340790	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv998420	chr1:227228591-227275031	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv873240	chr1:227228946-227361072	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv873241	chr1:227242247-227361072	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
2	chr1:227178400-227271200	Weak transcription	Psoas Muscle	Psoas
3	chr1:227190600-227272600	Weak transcription	Lung	lung
4	chr1:227203000-227278800	Weak transcription	Pancreas	Pancrea
5	chr1:227209000-227272400	Weak transcription	Fetal Intestine Small	intestine
6	chr1:227209200-227301600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
8	chr1:227216800-227287600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:227217000-227271400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:227217000-227278800	Weak transcription	Placenta	Placenta
11	chr1:227220600-227272600	Weak transcription	Aorta	Aorta
12	chr1:227220600-227288000	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:227226600-227270800	Weak transcription	Fetal Brain Female	brain
14	chr1:227226800-227272400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:227226800-227278400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:227226800-227285600	Weak transcription	Brain Germinal Matrix	brain
17	chr1:227227000-227272200	Weak transcription	Fetal Heart	heart
18	chr1:227227000-227282200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:227227400-227272400	Weak transcription	Ovary	ovary
20	chr1:227227400-227281200	Weak transcription	Fetal Kidney	kidney
21	chr1:227227400-227284200	Weak transcription	Brain Angular Gyrus	brain
22	chr1:227228000-227277000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:227232800-227279200	Weak transcription	Stomach Mucosa	stomach
24	chr1:227235800-227271000	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:227236000-227286200	Weak transcription	Fetal Brain Male	brain
26	chr1:227238400-227270600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:227238600-227278400	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:227239800-227271200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:227239800-227271400	Weak transcription	Fetal Intestine Large	intestine
30	chr1:227240000-227286800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:227240200-227266200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:227246400-227278400	Weak transcription	NH-A	brain
33	chr1:227247400-227272400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:227247400-227299800	Weak transcription	HMEC	breast
35	chr1:227248400-227268400	Weak transcription	Fetal Lung	lung
36	chr1:227248800-227271200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:227249400-227270400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:227249800-227271200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr1:227251000-227300000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:227253600-227270600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:227253600-227278600	Weak transcription	Adipose Nuclei	Adipose
42	chr1:227254000-227271600	Weak transcription	Left Ventricle	heart
43	chr1:227254000-227272000	Weak transcription	Fetal Stomach	stomach
44	chr1:227255000-227271800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:227257000-227278400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:227257600-227288000	Weak transcription	HSMMtube	muscle
47	chr1:227257800-227271000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:227257800-227312200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:227259000-227280600	Weak transcription	HepG2	liver
50	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon

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