Variant report

Variant	rs1021104
Chromosome Location	chr4:88078169-88078170
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88074161..88076670-chr4:88078019..88080367,3	K562	blood:
2	chr4:88071680..88075661-chr4:88075865..88079519,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10000784	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10025704	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11946293	0.96[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13435265	0.82[AMR][1000 genomes]
rs1481947	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552144	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17012516	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17012517	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28505236	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28571134	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28670747	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28734493	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28882732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3193672	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3209390	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4577539	0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55747890	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66527077	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72667790	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7437661	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
2	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv879526	chr4:88062611-88087832	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	esv1001550	chr4:88074416-88078567	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv993159	chr4:88074739-88079993	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88053600-88082000	Weak transcription	HSMM	muscle
2	chr4:88055200-88102800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:88056600-88090600	Weak transcription	Brain Angular Gyrus	brain
4	chr4:88058200-88082400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:88058200-88109000	Weak transcription	Lung	lung
6	chr4:88058600-88084200	Weak transcription	Brain Anterior Caudate	brain
7	chr4:88058800-88082400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:88058800-88088400	Weak transcription	Thymus	Thymus
9	chr4:88058800-88092200	Weak transcription	Colonic Mucosa	Colon
10	chr4:88059000-88086600	Weak transcription	A549	lung
11	chr4:88059200-88087800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:88059200-88088000	Weak transcription	Fetal Stomach	stomach
13	chr4:88059200-88100800	Weak transcription	Osteobl	bone
14	chr4:88061200-88082200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:88061400-88084000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:88061400-88109400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:88062600-88084400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:88063000-88090800	Weak transcription	Left Ventricle	heart
19	chr4:88063000-88090800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:88063200-88088400	Weak transcription	Ovary	ovary
21	chr4:88063200-88097400	Weak transcription	Small Intestine	intestine
22	chr4:88063200-88102000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:88063800-88083600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:88063800-88087800	Weak transcription	Primary T cells from cord blood	blood
25	chr4:88064200-88082800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:88064200-88090000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:88064200-88098800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:88064200-88100400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr4:88064400-88084400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:88064400-88092600	Weak transcription	HUVEC	blood vessel
31	chr4:88065600-88088200	Weak transcription	GM12878-XiMat	blood
32	chr4:88066000-88081200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr4:88066200-88097200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:88066200-88101000	Weak transcription	HMEC	breast
35	chr4:88066600-88082800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr4:88066600-88082800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:88066600-88084000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:88066600-88089800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:88066800-88084200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:88066800-88084400	Weak transcription	K562	blood
41	chr4:88066800-88084600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:88066800-88093000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:88067000-88080600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr4:88067000-88089400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:88067400-88083000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:88067600-88082600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:88067600-88084400	Weak transcription	Primary B cells from cord blood	blood
48	chr4:88067600-88087400	Weak transcription	Fetal Thymus	thymus
49	chr4:88067600-88096800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:88067800-88084400	Weak transcription	Dnd41	blood

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