Variant report

Variant	rs704246
Chromosome Location	chr3:70016904-70016905
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	chr3:70012809..70015718-chr3:70015918..70017994,3	K562	blood:
2	chr3:70013471..70015718-chr3:70015918..70017994,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1021413	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11718882	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12495230	0.96[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs12639523	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1491687	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1491688	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1491689	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1491695	0.85[CHB][hapmap];0.96[CHD][hapmap];0.84[JPT][hapmap]
rs1491698	0.95[CHB][hapmap]
rs17727959	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1844877	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1907646	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1907647	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2131026	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2172211	0.94[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28524674	0.80[ASN][1000 genomes]
rs2874270	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34790356	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35180789	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35416604	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35996477	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36125122	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3772111	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3821364	0.91[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3967688	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4635708	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4855331	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4855453	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4855454	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4855455	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4855456	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55842620	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56351003	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs576	0.95[CEU][hapmap];0.95[CHB][hapmap];0.80[CHD][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6549254	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6549255	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6549256	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6549257	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6549258	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6549259	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6549260	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6549261	0.95[CHB][hapmap];0.83[CHD][hapmap]
rs6771970	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73119519	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7429562	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7431913	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs902711	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs902712	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs923702	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9310178	0.95[CHB][hapmap]
rs9310179	0.95[CHB][hapmap];0.80[CHD][hapmap]
rs9310180	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs9839734	0.90[ASN][1000 genomes]
rs9840590	0.80[ASN][1000 genomes]
rs9851891	0.85[CHB][hapmap];0.84[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533396	chr3:69964029-70538306	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69998200-70017600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:70001600-70017200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:70004600-70017000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:70005400-70017000	Weak transcription	Hela-S3	cervix
5	chr3:70006000-70017400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:70007200-70017400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:70009000-70021200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:70009600-70018800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:70009800-70017200	Weak transcription	Pancreas	Pancrea
10	chr3:70009800-70018800	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:70010200-70021200	Weak transcription	HSMMtube	muscle
12	chr3:70010200-70022800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:70010200-70024000	Weak transcription	Fetal Kidney	kidney
14	chr3:70014400-70021200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:70014400-70021400	Weak transcription	Psoas Muscle	Psoas
16	chr3:70014400-70021400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:70014600-70019600	Weak transcription	Left Ventricle	heart
18	chr3:70014600-70021200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:70014800-70020000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr3:70015000-70024600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:70015600-70017200	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr3:70015600-70018200	Enhancers	Brain Cingulate Gyrus	brain
23	chr3:70015600-70019000	Weak transcription	Adipose Nuclei	Adipose
24	chr3:70015600-70020000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr3:70015800-70017000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:70015800-70017000	Strong transcription	Ovary	ovary
27	chr3:70015800-70017200	Enhancers	Brain Substantia Nigra	brain
28	chr3:70015800-70017400	Enhancers	Brain Angular Gyrus	brain
29	chr3:70016600-70017000	Active TSS	Brain Anterior Caudate	brain
30	chr3:70016600-70017400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:70016800-70017600	Enhancers	Brain Hippocampus Middle	brain
32	chr3:70016800-70017600	Enhancers	Brain Inferior Temporal Lobe	brain

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