Variant report

Variant	rs7604778
Chromosome Location	chr2:73842286-73842287
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs58267559	1.00[AMR][1000 genomes]
rs72913467	1.00[AMR][1000 genomes]
rs72915413	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv874267	chr2:73717656-73857002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription 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	20 gene(s)	inside rSNPs	diseases
6	nsv874268	chr2:73837751-73907696	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv874269	chr2:73837751-73914019	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv874270	chr2:73837751-73916672	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1015036	chr2:73840055-73891004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1006235	chr2:73840055-73896603	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1006033	chr2:73840055-73900856	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv963620	chr2:73841121-73844121	Strong transcription Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73801000-73844000	Weak transcription	Fetal Kidney	kidney
2	chr2:73823000-73844600	Weak transcription	Primary B cells from cord blood	blood
3	chr2:73829400-73845400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:73830400-73843600	Weak transcription	Aorta	Aorta
5	chr2:73830600-73843000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:73830600-73847600	Weak transcription	Spleen	Spleen
7	chr2:73830600-73854800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:73836400-73844200	Weak transcription	Adipose Nuclei	Adipose
9	chr2:73836400-73852600	Weak transcription	Ovary	ovary
10	chr2:73837400-73845000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:73838000-73845200	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:73838200-73843200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:73838400-73844200	Weak transcription	Fetal Lung	lung
14	chr2:73838400-73844200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:73838400-73852600	Weak transcription	Right Ventricle	heart
16	chr2:73838600-73843800	Weak transcription	Lung	lung
17	chr2:73838600-73845200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:73838600-73845400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:73838600-73847400	Weak transcription	Brain Angular Gyrus	brain
20	chr2:73838600-73852600	Weak transcription	Pancreas	Pancrea
21	chr2:73838800-73843400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:73838800-73845800	Weak transcription	Fetal Stomach	stomach
23	chr2:73838800-73846600	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:73838800-73849600	Weak transcription	Brain Germinal Matrix	brain
25	chr2:73839200-73842400	Weak transcription	Fetal Brain Female	brain
26	chr2:73839200-73844000	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr2:73839600-73845600	Weak transcription	Brain Substantia Nigra	brain
28	chr2:73839600-73846400	Weak transcription	Thymus	Thymus
29	chr2:73840400-73842800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr2:73841200-73842600	Strong transcription	Primary T cells from cord blood	blood
31	chr2:73841600-73843400	Weak transcription	GM12878-XiMat	blood
32	chr2:73841800-73844000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:73842000-73842400	Weak transcription	Left Ventricle	heart
34	chr2:73842000-73842800	Strong transcription	Brain Cingulate Gyrus	brain
35	chr2:73842000-73842800	Enhancers	Right Atrium	heart
36	chr2:73842200-73842600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:73842200-73842600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:73842200-73844200	Strong transcription	Brain Anterior Caudate	brain

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