Variant report

Variant	rs61212083
Chromosome Location	chr2:47756819-47756820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47750662..47752850-chr2:47755355..47757377,2	K562	blood:
2	chr2:47748591..47751031-chr2:47755310..47758617,3	MCF-7	breast:
3	chr2:47750662..47752920-chr2:47755355..47758272,2	K562	blood:
4	chr2:47753090..47755856-chr2:47756595..47758747,3	K562	blood:
5	chr2:47753090..47755856-chr2:47756080..47758113,3	K562	blood:
6	chr2:47756167..47758928-chr2:47763518..47766508,2	K562	blood:

Variant related genes	Relation type
ENSG00000235760	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11901715	1.00[AMR][1000 genomes]
rs57831950	1.00[AMR][1000 genomes]
rs57916992	1.00[AMR][1000 genomes]
rs59927838	1.00[AMR][1000 genomes]
rs60068970	1.00[AMR][1000 genomes]
rs60358586	1.00[AMR][1000 genomes]
rs60887102	1.00[AMR][1000 genomes]
rs72872806	1.00[AMR][1000 genomes]
rs72872810	1.00[AMR][1000 genomes]
rs72882770	1.00[AMR][1000 genomes]
rs72884694	1.00[AMR][1000 genomes]
rs72884701	1.00[AMR][1000 genomes]
rs72886311	1.00[AMR][1000 genomes]
rs72886331	1.00[AMR][1000 genomes]
rs72886333	1.00[AMR][1000 genomes]
rs72886340	1.00[AMR][1000 genomes]
rs72886346	1.00[AMR][1000 genomes]
rs72886357	1.00[AMR][1000 genomes]
rs72886367	1.00[AMR][1000 genomes]
rs72888235	1.00[AMR][1000 genomes]
rs72888241	1.00[AMR][1000 genomes]
rs72888249	1.00[AMR][1000 genomes]
rs72888257	1.00[AMR][1000 genomes]
rs72888260	1.00[AMR][1000 genomes]
rs72888262	1.00[AMR][1000 genomes]
rs72888268	1.00[AMR][1000 genomes]
rs72888274	1.00[AMR][1000 genomes]
rs72888288	1.00[AMR][1000 genomes]
rs72890160	1.00[AMR][1000 genomes]
rs72890162	1.00[AMR][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	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv817599	chr2:47738456-47961099	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47743600-47778200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:47748800-47757200	Weak transcription	Right Atrium	heart
3	chr2:47748800-47761000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:47748800-47772800	Weak transcription	Gastric	stomach
5	chr2:47749000-47761800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:47749000-47771000	Weak transcription	Ovary	ovary
7	chr2:47749200-47761000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:47749200-47762400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:47749400-47760000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:47749400-47760600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:47752600-47758000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:47753000-47758600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:47754600-47757600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:47754800-47760800	Weak transcription	Fetal Stomach	stomach
15	chr2:47755400-47761000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:47755600-47757000	Enhancers	HUVEC	blood vessel
17	chr2:47755800-47760800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:47756000-47757200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:47756000-47757200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:47756000-47758800	Enhancers	Fetal Muscle Leg	muscle
21	chr2:47756000-47760600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:47756000-47760600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:47756000-47761000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:47756000-47761200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:47756200-47757200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:47756200-47757200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:47756200-47760600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:47756200-47761200	Weak transcription	Fetal Brain Female	brain
29	chr2:47756400-47760400	Weak transcription	NH-A	brain
30	chr2:47756400-47760600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:47756400-47761800	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:47756400-47771400	Weak transcription	Brain Germinal Matrix	brain
33	chr2:47756600-47757000	Weak transcription	Fetal Brain Male	brain
34	chr2:47756800-47760800	Weak transcription	HSMM	muscle

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