Variant report

Variant	rs73035662
Chromosome Location	chr2:183954580-183954581
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183950455..183953323-chr2:183953411..183955359,2	K562	blood:
2	chr2:183954410..183956747-chr2:183990297..183991914,2	K562	blood:
3	chr2:183945846..183948149-chr2:183954335..183956849,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11885629	0.80[AFR][1000 genomes]
rs11892717	0.84[AFR][1000 genomes]
rs16823945	0.82[AFR][1000 genomes]
rs16823948	0.82[AFR][1000 genomes]
rs16823968	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2102770	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4358084	0.89[AFR][1000 genomes]
rs55803212	0.84[AFR][1000 genomes]
rs56219690	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56344408	0.88[AFR][1000 genomes]
rs57047150	0.88[AFR][1000 genomes]
rs58515193	0.89[AFR][1000 genomes]
rs59253255	0.84[AFR][1000 genomes]
rs59308931	0.88[AFR][1000 genomes]
rs60705462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73046213	0.89[AFR][1000 genomes]
rs73046218	0.81[AFR][1000 genomes]
rs73046222	0.89[AFR][1000 genomes]
rs73046257	0.86[AFR][1000 genomes]
rs73048203	0.88[AFR][1000 genomes]
rs73980523	0.81[AFR][1000 genomes]
rs73980527	0.80[AFR][1000 genomes]
rs7558834	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183944600-183955400	Weak transcription	Psoas Muscle	Psoas
2	chr2:183944600-183957400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:183944600-183963200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:183944800-183956000	Weak transcription	Liver	Liver
5	chr2:183944800-183956000	Weak transcription	Right Ventricle	heart
6	chr2:183944800-183962200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:183944800-183962800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:183945000-183956000	Weak transcription	Brain Anterior Caudate	brain
9	chr2:183945000-183960200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:183945000-183961800	Weak transcription	Left Ventricle	heart
11	chr2:183945000-183962600	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:183945000-183963400	Weak transcription	Fetal Intestine Small	intestine
13	chr2:183945000-183963400	Weak transcription	Fetal Stomach	stomach
14	chr2:183945600-183960800	Weak transcription	Fetal Intestine Large	intestine
15	chr2:183945600-183964000	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:183945800-183972600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:183947000-183962800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:183947000-183963600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:183953200-183963600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:183953800-183954600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr2:183953800-183954600	Flanking Active TSS	GM12878-XiMat	blood
22	chr2:183954000-183954600	Active TSS	Aorta	Aorta
23	chr2:183954000-183955600	Enhancers	HepG2	liver
24	chr2:183954200-183954600	Active TSS	Osteobl	bone
25	chr2:183954200-183954800	Strong transcription	Pancreas	Pancrea
26	chr2:183954400-183954600	Active TSS	K562	blood
27	chr2:183954400-183955400	Weak transcription	Duodenum Mucosa	Duodenum

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