Variant report

Variant	rs318883
Chromosome Location	chr8:50867869-50867870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2220264	0.89[AFR][1000 genomes]
rs2449965	0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2450289	0.82[AFR][1000 genomes]
rs318852	0.93[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.80[AFR][1000 genomes]
rs318855	0.80[AFR][1000 genomes]
rs318856	0.80[AFR][1000 genomes]
rs318857	0.80[AFR][1000 genomes]
rs318863	0.82[AFR][1000 genomes]
rs318876	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318878	0.83[AFR][1000 genomes]
rs318879	0.91[AFR][1000 genomes]
rs318880	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318882	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318887	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318889	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs412095	0.82[AFR][1000 genomes]
rs413492	0.80[AFR][1000 genomes]
rs442875	0.86[LWK][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1022115	chr8:50864995-50981944	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv611311	chr8:50865230-50980320	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50855200-50875200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:50858400-50870200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:50858400-50871600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:50860400-50875400	Weak transcription	Fetal Intestine Small	intestine
5	chr8:50865800-50868000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:50865800-50869200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:50866000-50868600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:50866200-50868200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:50866200-50868400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:50866200-50868600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:50866200-50868600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:50866600-50868400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:50867800-50868000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:50867800-50868000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:50867800-50868000	Enhancers	Brain Cingulate Gyrus	brain
16	chr8:50867800-50868200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:50867800-50868200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:50867800-50868200	Enhancers	Brain Substantia Nigra	brain
19	chr8:50867800-50868400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr8:50867800-50868400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:50867800-50868400	Enhancers	Brain Anterior Caudate	brain
22	chr8:50867800-50868400	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr8:50867800-50868400	Enhancers	HMEC	breast
24	chr8:50867800-50868600	Enhancers	Brain Germinal Matrix	brain
25	chr8:50867800-50869200	Enhancers	H1 Cell Line	embryonic stem cell

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