Variant report

Variant	rs684080
Chromosome Location	chr4:74760044-74760045
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74759338..74760983-chr4:74763696..74765672,2	K562	blood:
2	chr4:74758611..74762453-chr4:74763527..74766152,5	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10007826	0.92[ASN][1000 genomes]
rs1366946	0.92[ASN][1000 genomes]
rs1366949	0.92[ASN][1000 genomes]
rs16850137	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs2115691	0.90[CHB][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2145615	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2367291	0.81[JPT][hapmap];0.83[YRI][hapmap]
rs2367293	0.92[ASN][1000 genomes]
rs24772	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28404022	0.96[EUR][1000 genomes]
rs2886927	0.81[JPT][hapmap];0.91[YRI][hapmap]
rs2886969	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2886970	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2968710	0.92[ASN][1000 genomes]
rs3097409	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3097411	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs3097412	0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3111694	0.81[JPT][hapmap];0.91[YRI][hapmap]
rs3111697	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3111698	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3117597	0.84[JPT][hapmap];0.85[YRI][hapmap]
rs3117598	0.81[JPT][hapmap];0.91[YRI][hapmap]
rs3117600	0.81[JPT][hapmap];0.83[YRI][hapmap]
rs3117604	0.83[JPT][hapmap];0.83[YRI][hapmap]
rs4074	0.86[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs482239	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs492155	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs493091	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs508977	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs512606	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs516224	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs518632	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs519565	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs537373	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs541923	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs548068	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs551744	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs561454	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs562213	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs569390	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs573878	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs593641	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs596352	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs623659	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs634304	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs638767	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs654871	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs655328	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs673038	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs680044	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs680452	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs683671	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6858086	0.90[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs7692638	0.97[EUR][1000 genomes]
rs9991272	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv432612	chr4:74723372-74774372	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	esv3348061	chr4:74759910-74760131	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74752000-74760600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:74757200-74770400	Enhancers	NHDF-Ad	bronchial
3	chr4:74757400-74761000	Weak transcription	Stomach Mucosa	stomach
4	chr4:74757600-74760200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:74757600-74760600	Weak transcription	Pancreas	Pancrea
6	chr4:74757600-74761200	Weak transcription	Spleen	Spleen
7	chr4:74758200-74760200	Weak transcription	Adipose Nuclei	Adipose
8	chr4:74758200-74760800	Weak transcription	Osteobl	bone
9	chr4:74758800-74761200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:74759000-74760200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:74759000-74761000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr4:74759200-74760200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:74759200-74760600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:74759200-74764600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:74759800-74760400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:74759800-74761200	Enhancers	Fetal Stomach	stomach
17	chr4:74759800-74770400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:74760000-74760200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:74760000-74760200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:74760000-74760200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:74760000-74760400	Enhancers	Fetal Kidney	kidney
22	chr4:74760000-74760800	Weak transcription	Fetal Intestine Large	intestine
23	chr4:74760000-74760800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr4:74760000-74761400	Enhancers	NHLF	lung
25	chr4:74760000-74761600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr4:74760000-74762600	Enhancers	Fetal Intestine Small	intestine

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