Variant report

Variant	rs2694003
Chromosome Location	chr7:125201574-125201575
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1086888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1086889	1.00[AFR][1000 genomes]
rs1088175	1.00[AFR][1000 genomes]
rs2140795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2140796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2428575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2462934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2524893	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2524898	1.00[AFR][1000 genomes]
rs2524899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2524900	1.00[AFR][1000 genomes]
rs2524901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2524902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2524903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2693991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2693992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2693993	1.00[AFR][1000 genomes]
rs2693994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2693995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2693996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2693999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2694000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2694004	1.00[ASN][1000 genomes]
rs2694005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs792407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs792409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs792410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422188	chr7:124782873-125254203	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2761087	chr7:124823624-125429662	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1028369	chr7:124967804-125508233	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv948720	chr7:124970772-125783434	Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv889145	chr7:124977736-125231999	Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1018428	chr7:125044642-125730775	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv831120	chr7:125044774-125207696	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1028636	chr7:125073718-125406148	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv539112	chr7:125073718-125406148	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1034113	chr7:125099740-125412688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv889148	chr7:125131542-125231999	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1027318	chr7:125164599-125317502	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv539113	chr7:125164599-125317502	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv529134	chr7:125178203-125571449	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv464710	chr7:125196970-125287479	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv608347	chr7:125196970-125287479	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125191200-125211000	Weak transcription	Right Atrium	heart
2	chr7:125200200-125202200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr7:125201000-125201800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:125201000-125202000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:125201200-125201600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:125201200-125201600	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr7:125201200-125201600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:125201200-125201600	Active TSS	Duodenum Mucosa	Duodenum
9	chr7:125201200-125201600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr7:125201200-125201600	Active TSS	GM12878-XiMat	blood
11	chr7:125201200-125201800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:125201200-125201800	Active TSS	Brain Angular Gyrus	brain
13	chr7:125201200-125201800	Active TSS	Brain Anterior Caudate	brain
14	chr7:125201200-125201800	Active TSS	Brain Hippocampus Middle	brain
15	chr7:125201200-125201800	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr7:125201200-125201800	Active TSS	Brain Substantia Nigra	brain
17	chr7:125201200-125201800	Active TSS	A549	lung
18	chr7:125201200-125201800	Active TSS	Monocytes-CD14+_RO01746	blood
19	chr7:125201400-125201600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:125201400-125201800	Active TSS	Brain Cingulate Gyrus	brain

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