Variant report

Variant	rs9284273
Chromosome Location	chr13:94423446-94423447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:94422038..94423634-chr13:94425606..94427255,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1320551	0.82[JPT][hapmap]
rs1411500	0.82[CHB][hapmap]
rs1890436	0.82[JPT][hapmap]
rs1933780	1.00[GIH][hapmap];0.82[JPT][hapmap]
rs1933781	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1933784	1.00[JPT][hapmap]
rs2149225	0.87[GIH][hapmap];0.82[JPT][hapmap]
rs4238307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301888	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs4322535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4359315	0.82[JPT][hapmap]
rs4534700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4556668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4572255	0.82[JPT][hapmap]
rs4589418	0.88[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap]
rs4590994	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4622388	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4628823	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4771882	1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap]
rs4773758	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4773759	0.82[JPT][hapmap]
rs6492675	0.81[AMR][1000 genomes]
rs6492676	1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap]
rs7330971	1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs7331304	0.82[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs7982874	0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs7984578	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7988063	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7988294	0.82[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs7998877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9301903	0.82[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs9301904	0.82[JPT][hapmap]
rs9524179	0.82[JPT][hapmap]
rs9524180	0.82[JPT][hapmap]
rs9524197	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];1.00[ASN][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	nsv948714	chr13:94100104-94699435	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv933807	chr13:94187158-94845505	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1045230	chr13:94277683-94764671	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv832684	chr13:94379507-94550853	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1130	chr13:94410849-94455628	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94415800-94423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:94416600-94429000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:94419800-94423800	Enhancers	Fetal Stomach	stomach
4	chr13:94420400-94423600	Enhancers	Colon Smooth Muscle	Colon
5	chr13:94420600-94424400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:94420600-94429000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:94420800-94423800	Enhancers	Fetal Heart	heart
8	chr13:94420800-94427600	Weak transcription	A549	lung
9	chr13:94421400-94428000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr13:94421600-94423800	Enhancers	Ovary	ovary
11	chr13:94421800-94423800	Enhancers	Fetal Lung	lung
12	chr13:94421800-94424400	Enhancers	Fetal Intestine Small	intestine
13	chr13:94422000-94423600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:94422800-94423800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr13:94422800-94423800	Enhancers	Aorta	Aorta
16	chr13:94422800-94424000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr13:94423000-94423800	Enhancers	Brain Germinal Matrix	brain
18	chr13:94423000-94423800	Enhancers	Fetal Brain Female	brain
19	chr13:94423200-94423600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr13:94423200-94423600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr13:94423200-94423800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:94423200-94423800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:94423200-94424000	Enhancers	NH-A	brain
24	chr13:94423200-94424200	Weak transcription	Fetal Intestine Large	intestine
25	chr13:94423200-94424600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr13:94423200-94424600	Enhancers	Osteobl	bone
27	chr13:94423200-94427400	Weak transcription	HepG2	liver
28	chr13:94423400-94423600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:94423400-94423600	Enhancers	Fetal Kidney	kidney
30	chr13:94423400-94423800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr13:94423400-94423800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:94423400-94424400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:94423400-94424400	Enhancers	HSMM	muscle
34	chr13:94423400-94424800	Enhancers	Liver	Liver

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