Variant report

Variant	rs57831950
Chromosome Location	chr2:47740555-47740556
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47740431..47742098-chr2:47747533..47749204,2	MCF-7	breast:
2	chr2:47738717..47741955-chr2:47744813..47746664,3	K562	blood:
3	chr2:47738927..47740595-chr2:47742271..47744038,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNK12-2	chr2:47739991-47740615	NONHSAT070579

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]
rs57916992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59927838	1.00[AMR][1000 genomes]
rs60068970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60358586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60887102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61212083	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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888257	1.00[AMR][1000 genomes]
rs72888260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888262	1.00[AMR][1000 genomes]
rs72888268	1.00[AMR][1000 genomes]
rs72888274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888288	1.00[AFR][1000 genomes];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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47732600-47747800	Weak transcription	Primary T cells from cord blood	blood
2	chr2:47734000-47740800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:47734000-47741000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:47734000-47741400	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:47734000-47747000	Weak transcription	Brain Anterior Caudate	brain
6	chr2:47734000-47747600	Weak transcription	Brain Substantia Nigra	brain
7	chr2:47736800-47742800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:47736800-47747400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:47736800-47747400	Weak transcription	Thymus	Thymus
10	chr2:47737000-47747200	Weak transcription	GM12878-XiMat	blood
11	chr2:47737200-47741200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:47737200-47741200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:47737200-47743400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:47737200-47744400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:47737200-47744800	Weak transcription	Fetal Thymus	thymus
16	chr2:47738200-47742800	Weak transcription	Fetal Brain Male	brain
17	chr2:47738200-47744800	Weak transcription	Ovary	ovary
18	chr2:47738400-47743600	Weak transcription	Fetal Brain Female	brain
19	chr2:47738400-47747200	Weak transcription	Brain Germinal Matrix	brain
20	chr2:47739200-47747600	Weak transcription	Pancreas	Pancrea
21	chr2:47739800-47741600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:47740000-47741400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:47740000-47743000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:47740000-47747200	Weak transcription	Spleen	Spleen
25	chr2:47740200-47740800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:47740200-47745200	Weak transcription	Dnd41	blood
27	chr2:47740400-47746600	Weak transcription	Primary T cells fromperipheralblood	blood

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