Variant report

Variant	rs4683321
Chromosome Location	chr3:47150269-47150270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47147445..47150358-chr3:47462787..47464363,2	K562	blood:

Variant related genes	Relation type
ENSG00000114650	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12486248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs12487863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12489851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes]
rs12490244	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12490251	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12491419	0.84[AMR][1000 genomes]
rs12492463	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12493011	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12493723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12495173	0.86[ASN][1000 genomes]
rs12495438	0.92[ASN][1000 genomes]
rs12497141	0.81[AMR][1000 genomes]
rs17079425	1.00[JPT][hapmap]
rs17079512	0.89[ASN][1000 genomes]
rs17079543	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2291721	0.87[AMR][1000 genomes]
rs3733093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs3816531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3821879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs3933020	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4082156	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4627772	0.89[ASN][1000 genomes]
rs4683318	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4683323	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58206566	0.92[ASN][1000 genomes]
rs59601660	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60285825	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61364027	0.84[AMR][1000 genomes]
rs7372834	0.87[AMR][1000 genomes]
rs7638049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
5	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1002970	chr3:47120592-47170607	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv590210	chr3:47126543-47214122	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47112400-47153600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:47123000-47159200	Weak transcription	Brain Substantia Nigra	brain
3	chr3:47124600-47154400	Weak transcription	Fetal Brain Male	brain
4	chr3:47125600-47154600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:47125800-47153600	Weak transcription	Esophagus	oesophagus
6	chr3:47125800-47154600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:47125800-47154600	Weak transcription	Gastric	stomach
8	chr3:47125800-47155000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr3:47126000-47153600	Weak transcription	Aorta	Aorta
10	chr3:47126400-47159800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr3:47126800-47168200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr3:47128400-47150400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:47135000-47158800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:47139200-47154000	Weak transcription	Brain Anterior Caudate	brain
15	chr3:47139600-47153400	Weak transcription	Pancreas	Pancrea
16	chr3:47139600-47154600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:47139600-47161800	Weak transcription	Fetal Brain Female	brain
18	chr3:47139800-47150400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:47139800-47153000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:47139800-47154200	Weak transcription	Colonic Mucosa	Colon
21	chr3:47139800-47163200	Weak transcription	A549	lung
22	chr3:47140000-47175600	Weak transcription	Small Intestine	intestine
23	chr3:47140600-47159200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr3:47141200-47155000	Weak transcription	HMEC	breast
25	chr3:47141200-47155200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:47143600-47152400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:47143800-47153000	Weak transcription	Fetal Kidney	kidney
28	chr3:47143800-47154600	Weak transcription	Fetal Heart	heart
29	chr3:47144000-47153000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:47144000-47153200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:47144000-47154200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr3:47144000-47154600	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:47144000-47154600	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:47144200-47150600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr3:47144200-47155000	Weak transcription	Right Ventricle	heart
36	chr3:47144200-47170800	Weak transcription	Brain Angular Gyrus	brain
37	chr3:47144400-47150600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:47144400-47152200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:47145000-47150400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:47145000-47152600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr3:47145000-47155000	Strong transcription	GM12878-XiMat	blood
42	chr3:47145200-47150400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:47145200-47154800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr3:47145600-47150400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr3:47145600-47153600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr3:47145600-47155800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr3:47145800-47175000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:47146000-47150600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:47146000-47150600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:47146200-47154600	Weak transcription	Rectal Smooth Muscle	rectum

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