Variant report

Variant	rs7657481
Chromosome Location	chr4:78707730-78707731
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1058746	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11932644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935318	0.84[EUR][1000 genomes]
rs11941918	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11944704	1.00[CEU][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1354100	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17002830	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17408624	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17409255	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17409708	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17409820	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17410182	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs17416711	0.84[EUR][1000 genomes]
rs17448620	1.00[CEU][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17448771	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17449827	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17450307	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17450474	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs1801350	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1801521	0.84[EUR][1000 genomes]
rs1915587	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1915588	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36124924	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41437548	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6810599	0.84[EUR][1000 genomes]
rs6812768	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6815466	0.84[EUR][1000 genomes]
rs6816113	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6850795	0.84[EUR][1000 genomes]
rs6853446	0.84[EUR][1000 genomes]
rs7656101	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs7657902	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7674271	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7687500	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs7699718	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][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	nsv829976	chr4:78576657-78757798	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv879501	chr4:78647634-78866007	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv1818157	chr4:78678104-78849088	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78643800-78714000	Weak transcription	Lung	lung
2	chr4:78650200-78720000	Weak transcription	Spleen	Spleen
3	chr4:78694200-78722000	Weak transcription	Fetal Stomach	stomach
4	chr4:78696400-78717600	Weak transcription	Thymus	Thymus
5	chr4:78697200-78716400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:78697400-78721400	Weak transcription	Placenta	Placenta
7	chr4:78697600-78709200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr4:78698000-78714000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:78698000-78714600	Weak transcription	Fetal Thymus	thymus
10	chr4:78698000-78716400	Weak transcription	Primary B cells from cord blood	blood
11	chr4:78698600-78710600	Weak transcription	Left Ventricle	heart
12	chr4:78698600-78710600	Weak transcription	Ovary	ovary
13	chr4:78698600-78710800	Weak transcription	Adipose Nuclei	Adipose
14	chr4:78698600-78714000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:78698600-78717400	Weak transcription	Right Ventricle	heart
16	chr4:78698600-78720200	Weak transcription	Dnd41	blood
17	chr4:78698800-78708600	Weak transcription	Brain Substantia Nigra	brain
18	chr4:78698800-78710000	Weak transcription	Liver	Liver
19	chr4:78698800-78717400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:78699200-78716400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:78699400-78714000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:78701600-78716600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr4:78701600-78721400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:78701800-78712400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr4:78702600-78711400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr4:78702800-78708200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr4:78702800-78709200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:78703600-78718000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr4:78703800-78710200	Weak transcription	Small Intestine	intestine
30	chr4:78704400-78710000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:78704800-78716600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:78704800-78716600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr4:78704800-78722200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:78705000-78710200	Weak transcription	HepG2	liver
35	chr4:78705800-78709200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:78705800-78720000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr4:78706000-78710600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:78706000-78710600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:78706000-78717600	Weak transcription	Right Atrium	heart
40	chr4:78706200-78719800	Weak transcription	Fetal Intestine Small	intestine
41	chr4:78706600-78708000	Enhancers	Primary T cells fromperipheralblood	blood
42	chr4:78707000-78708200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:78707000-78711200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:78707000-78716600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr4:78707200-78708000	Enhancers	Primary B cells from peripheral blood	blood
46	chr4:78707200-78710200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr4:78707400-78720200	Weak transcription	Gastric	stomach
48	chr4:78707600-78707800	Enhancers	Psoas Muscle	Psoas
49	chr4:78707600-78708600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr4:78707600-78709000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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