Variant report

Variant	rs11730981
Chromosome Location	chr4:85849999-85850000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10029496	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10856851	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10856852	0.91[CEU][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11097026	1.00[CEU][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11097028	0.81[EUR][1000 genomes]
rs11732309	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11732347	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12498637	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498787	0.86[EUR][1000 genomes]
rs12503215	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506456	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12510410	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12511112	0.86[JPT][hapmap]
rs12640378	0.85[EUR][1000 genomes]
rs12648852	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13109918	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13114115	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13118671	0.81[CEU][hapmap]
rs13124246	0.87[EUR][1000 genomes]
rs13141322	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13148035	0.86[EUR][1000 genomes]
rs1484660	0.87[AMR][1000 genomes]
rs1508670	0.81[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs17009317	0.81[CEU][hapmap]
rs17009334	0.82[CEU][hapmap];0.85[JPT][hapmap]
rs17009341	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2046402	0.86[AMR][1000 genomes]
rs2046404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2869216	0.82[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes]
rs28754901	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3098928	0.86[JPT][hapmap]
rs34239067	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34314581	0.87[EUR][1000 genomes]
rs4131745	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4376130	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4383611	0.86[JPT][hapmap]
rs4464556	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4470615	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4533765	0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4590017	0.86[JPT][hapmap]
rs4624645	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4626191	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4634212	0.83[EUR][1000 genomes]
rs55871210	0.81[EUR][1000 genomes]
rs56194765	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6531777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531782	0.91[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6531783	0.86[JPT][hapmap]
rs67045782	0.90[AMR][1000 genomes]
rs6815917	0.80[EUR][1000 genomes]
rs6833661	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835046	0.81[AMR][1000 genomes]
rs6847067	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs6847564	0.81[JPT][hapmap]
rs6847811	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857555	0.87[AMR][1000 genomes]
rs6858666	0.82[CHB][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap]
rs72664934	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72664952	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72664957	0.83[EUR][1000 genomes]
rs7654035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7661609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7663580	0.91[CEU][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7675324	0.86[EUR][1000 genomes]
rs7685537	0.86[JPT][hapmap]
rs7692223	0.87[JPT][hapmap]
rs7694949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7699226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9684737	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9790649	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	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv427684	chr4:85668487-85863446	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv508295	chr4:85822802-85885027	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85798800-85873200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:85809000-85872800	Weak transcription	A549	lung
3	chr4:85811800-85851200	Weak transcription	Esophagus	oesophagus
4	chr4:85813000-85858800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:85816000-85852400	Weak transcription	Left Ventricle	heart
6	chr4:85821600-85858400	Weak transcription	Pancreas	Pancrea
7	chr4:85829200-85850000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:85829200-85866200	Weak transcription	Spleen	Spleen
9	chr4:85837600-85858400	Weak transcription	Fetal Brain Female	brain
10	chr4:85837600-85859200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:85837800-85853200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:85837800-85858000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:85838400-85853800	Weak transcription	Fetal Heart	heart
14	chr4:85838600-85858600	Weak transcription	Liver	Liver
15	chr4:85838600-85858600	Weak transcription	Psoas Muscle	Psoas
16	chr4:85839600-85858400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:85842200-85850000	Weak transcription	NH-A	brain
18	chr4:85842200-85852400	Weak transcription	Adipose Nuclei	Adipose
19	chr4:85842200-85857800	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:85842400-85850000	Weak transcription	HSMMtube	muscle
21	chr4:85842400-85858400	Weak transcription	HMEC	breast
22	chr4:85842800-85858000	Weak transcription	HUVEC	blood vessel
23	chr4:85844400-85854400	Weak transcription	HepG2	liver
24	chr4:85844600-85854000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:85845200-85850200	Weak transcription	Placenta	Placenta
26	chr4:85845600-85850000	Weak transcription	NHDF-Ad	bronchial
27	chr4:85845600-85882800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:85846000-85852400	Weak transcription	NHEK	skin
29	chr4:85846400-85852400	Weak transcription	Brain Angular Gyrus	brain
30	chr4:85846400-85858400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:85846600-85852600	Weak transcription	Brain Hippocampus Middle	brain
32	chr4:85846600-85858200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:85846800-85850200	Weak transcription	Right Ventricle	heart
34	chr4:85846800-85852400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:85846800-85852600	Weak transcription	Brain Anterior Caudate	brain
36	chr4:85847000-85850200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:85847000-85860200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr4:85848200-85853000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:85848400-85850400	Strong transcription	Osteobl	bone
40	chr4:85848400-85851600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:85848400-85851600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:85848400-85852600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:85848400-85852800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:85848400-85852800	Strong transcription	HSMM	muscle
45	chr4:85848400-85853000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:85848400-85853400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:85848400-85853400	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr4:85848400-85853400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:85848400-85853400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr4:85848400-85853600	Strong transcription	Primary monocytes fromperipheralblood	blood

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