Variant report

Variant	rs42761
Chromosome Location	chr3:138080630-138080631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138079655..138082250-chr3:138142327..138144870,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1199333	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1199334	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1199335	1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1199336	1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1199346	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199347	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1201763	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1209710	1.00[ASW][hapmap];0.91[CEU][hapmap];0.96[GIH][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1212469	0.95[ASN][1000 genomes]
rs13082471	1.00[YRI][hapmap]
rs1308362	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1624314	1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs166195	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs166196	1.00[ASN][1000 genomes]
rs1679149	0.86[ASN][1000 genomes]
rs1720825	0.80[AMR][1000 genomes]
rs1720827	0.80[EUR][1000 genomes]
rs183151	0.90[ASN][1000 genomes]
rs194146	0.86[ASN][1000 genomes]
rs253662	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs253664	0.96[GIH][hapmap]
rs253666	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs40005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40412	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4346503	0.80[AMR][1000 genomes]
rs4437085	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6809480	0.80[AMR][1000 genomes]
rs774373	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs799328	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs811332	1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1796956	chr3:138051423-138122781	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1848610	chr3:138051423-138133412	Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138068400-138083000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:138068600-138084600	Weak transcription	Gastric	stomach
3	chr3:138068800-138093200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:138069200-138088200	Weak transcription	Fetal Lung	lung
5	chr3:138070000-138096600	Weak transcription	Fetal Brain Male	brain
6	chr3:138070200-138086400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:138071000-138085600	Weak transcription	Brain Germinal Matrix	brain
8	chr3:138071200-138080800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:138071200-138082400	Weak transcription	Spleen	Spleen
10	chr3:138071200-138082800	Weak transcription	Esophagus	oesophagus
11	chr3:138071200-138096600	Weak transcription	Aorta	Aorta
12	chr3:138071600-138086600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:138071800-138083400	Weak transcription	Placenta	Placenta
14	chr3:138073800-138084600	Weak transcription	Fetal Intestine Small	intestine
15	chr3:138074200-138095600	Enhancers	Fetal Heart	heart
16	chr3:138074800-138089800	Enhancers	Brain Cingulate Gyrus	brain
17	chr3:138075000-138086400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:138075000-138090000	Enhancers	Brain Anterior Caudate	brain
19	chr3:138075400-138080800	Enhancers	Psoas Muscle	Psoas
20	chr3:138075400-138087400	Enhancers	Right Atrium	heart
21	chr3:138075600-138081200	Enhancers	Adipose Nuclei	Adipose
22	chr3:138075600-138081600	Enhancers	Brain Hippocampus Middle	brain
23	chr3:138075600-138082800	Enhancers	Left Ventricle	heart
24	chr3:138075600-138089400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:138076000-138086400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:138076000-138108200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr3:138076200-138080800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:138076400-138081000	Genic enhancers	HSMM	muscle
29	chr3:138076400-138082400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr3:138077000-138083000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:138077400-138081000	Genic enhancers	Fetal Muscle Leg	muscle
32	chr3:138077400-138081800	Enhancers	HepG2	liver
33	chr3:138077600-138081000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:138077800-138082400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:138077800-138091600	Enhancers	Right Ventricle	heart
36	chr3:138078200-138081200	Weak transcription	Fetal Kidney	kidney
37	chr3:138078400-138081200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:138078600-138086400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr3:138078600-138100600	Weak transcription	NH-A	brain
40	chr3:138078800-138081800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr3:138078800-138086600	Strong transcription	Fetal Stomach	stomach
42	chr3:138079000-138085400	Weak transcription	Colon Smooth Muscle	Colon
43	chr3:138079400-138081200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr3:138079600-138080800	Weak transcription	Brain Angular Gyrus	brain
45	chr3:138079600-138081600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr3:138079600-138095600	Weak transcription	Fetal Brain Female	brain
47	chr3:138079800-138081800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:138079800-138082800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:138079800-138086600	Weak transcription	Osteobl	bone
50	chr3:138080000-138081600	Enhancers	HSMMtube	muscle

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