Variant report

Variant	rs73007132
Chromosome Location	chr2:148830513-148830514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11883657	1.00[AMR][1000 genomes]
rs11903941	1.00[AMR][1000 genomes]
rs17232015	1.00[AMR][1000 genomes]
rs17232022	1.00[AMR][1000 genomes]
rs57219455	1.00[AMR][1000 genomes]
rs57687744	1.00[AMR][1000 genomes]
rs59959562	1.00[AMR][1000 genomes]
rs6737271	1.00[AMR][1000 genomes]
rs73003432	1.00[AMR][1000 genomes]
rs73003434	1.00[AMR][1000 genomes]
rs73003439	1.00[AMR][1000 genomes]
rs73003443	1.00[AMR][1000 genomes]
rs73003455	1.00[AMR][1000 genomes]
rs73003466	1.00[AMR][1000 genomes]
rs73003478	1.00[AMR][1000 genomes]
rs73005148	1.00[AMR][1000 genomes]
rs73005150	1.00[AMR][1000 genomes]
rs73005154	1.00[AMR][1000 genomes]
rs73005176	1.00[AMR][1000 genomes]
rs73007121	1.00[AMR][1000 genomes]
rs73007149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007189	1.00[AMR][1000 genomes]
rs73009207	1.00[AMR][1000 genomes]
rs73009239	1.00[AMR][1000 genomes]
rs73009272	1.00[AMR][1000 genomes]
rs73018083	1.00[AMR][1000 genomes]
rs73018086	1.00[AMR][1000 genomes]
rs73018088	1.00[AMR][1000 genomes]
rs73020006	1.00[AMR][1000 genomes]
rs73020017	1.00[AMR][1000 genomes]
rs73020021	1.00[AMR][1000 genomes]
rs73020026	1.00[AMR][1000 genomes]
rs73020034	1.00[AMR][1000 genomes]
rs73020036	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
4	nsv1009602	chr2:148668195-148844240	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv535967	chr2:148668195-148844240	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1002358	chr2:148703807-148942372	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1007683	chr2:148717347-148942372	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv535971	chr2:148717347-148942372	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv869326	chr2:148727068-148859804	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv817366	chr2:148727068-148879681	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1000852	chr2:148730825-148934986	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv535972	chr2:148730825-148934986	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv916766	chr2:148743880-148955720	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1015003	chr2:148745734-148839653	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1005805	chr2:148755022-148842566	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv535976	chr2:148755022-148842566	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	nsv1014570	chr2:148780080-148869729	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv535978	chr2:148780080-148869729	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv535979	chr2:148822091-148859805	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148779600-148844600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:148781800-148833400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:148795600-148843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:148799400-148839000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:148799400-148844000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:148800000-148844600	Weak transcription	Fetal Lung	lung
7	chr2:148805600-148846200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:148807000-148834000	Weak transcription	Brain Anterior Caudate	brain
9	chr2:148807000-148844600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:148807400-148833400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:148812400-148831600	Weak transcription	Primary B cells from cord blood	blood
12	chr2:148812600-148838800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:148812600-148845000	Weak transcription	HSMM	muscle
14	chr2:148816400-148839200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:148821200-148857600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:148821600-148830600	Weak transcription	GM12878-XiMat	blood
17	chr2:148823000-148839200	Weak transcription	Aorta	Aorta
18	chr2:148824600-148832600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:148826000-148861000	Weak transcription	Left Ventricle	heart
20	chr2:148826200-148840600	Weak transcription	Psoas Muscle	Psoas
21	chr2:148826200-148842400	Weak transcription	Primary T cells from cord blood	blood
22	chr2:148826600-148844800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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