Variant report

Variant	rs7674271
Chromosome Location	chr4:78815562-78815563
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	chr4:78783567..78785320-chr4:78814122..78816828,2	K562	blood:

Variant related genes	Relation type
ENSG00000169288	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1058746	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11932644	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11935318	0.94[EUR][1000 genomes]
rs11941918	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11944704	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1354100	0.83[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17002830	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17408624	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17409255	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.91[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];0.97[EUR][1000 genomes]
rs17409820	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17410182	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs17416711	0.94[EUR][1000 genomes]
rs17416836	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17448620	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17448771	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.85[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];0.97[EUR][1000 genomes]
rs17450307	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17450474	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs17450655	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs1801350	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1801521	0.94[EUR][1000 genomes]
rs1915587	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1915588	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36124924	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41437548	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs6810599	0.94[EUR][1000 genomes]
rs6812768	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6815466	0.94[EUR][1000 genomes]
rs6816113	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6850795	0.94[EUR][1000 genomes]
rs6853446	0.94[EUR][1000 genomes]
rs7656101	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs7657481	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]
rs7657902	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7673193	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7678283	1.00[CEU][hapmap]
rs7687500	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs7699718	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1010714	chr4:78742505-78991030	Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1824966	chr4:78747771-78823070	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv516836	chr4:78748977-78981919	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv594704	chr4:78748977-78981919	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv461562	chr4:78757015-78981919	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv461563	chr4:78757015-78981919	Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv594705	chr4:78757015-78981919	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1008217	chr4:78777531-78957311	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv537145	chr4:78777531-78957311	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78784800-78842200	Weak transcription	HSMMtube	muscle
2	chr4:78784800-78859800	Weak transcription	Esophagus	oesophagus
3	chr4:78785000-78831200	Weak transcription	Brain Angular Gyrus	brain
4	chr4:78785000-78831600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:78785000-78841800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:78785000-78874400	Weak transcription	Right Ventricle	heart
7	chr4:78785200-78816200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr4:78785200-78818800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:78785200-78820800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:78785400-78829800	Weak transcription	Fetal Heart	heart
11	chr4:78790600-78843400	Weak transcription	Small Intestine	intestine
12	chr4:78790800-78817400	Weak transcription	NH-A	brain
13	chr4:78794000-78851200	Weak transcription	Spleen	Spleen
14	chr4:78794200-78815600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:78794200-78851800	Weak transcription	Lung	lung
16	chr4:78795600-78831800	Weak transcription	NHLF	lung
17	chr4:78795600-78833000	Weak transcription	Brain Germinal Matrix	brain
18	chr4:78799200-78832000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:78802400-78858400	Weak transcription	Aorta	Aorta
20	chr4:78803400-78817600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:78806000-78817600	Weak transcription	HMEC	breast
22	chr4:78806000-78817800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:78806000-78841400	Weak transcription	A549	lung
24	chr4:78806000-78881000	Weak transcription	Brain Hippocampus Middle	brain
25	chr4:78806600-78875600	Weak transcription	Colonic Mucosa	Colon
26	chr4:78807400-78818200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:78808800-78819000	Weak transcription	NHEK	skin
28	chr4:78808800-78820600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:78808800-78852400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:78809000-78817400	Weak transcription	K562	blood
31	chr4:78809000-78818400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:78809000-78825000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:78809200-78815800	Weak transcription	HUVEC	blood vessel
34	chr4:78809200-78836800	Weak transcription	Fetal Brain Female	brain
35	chr4:78809200-78837400	Weak transcription	Fetal Brain Male	brain
36	chr4:78809200-78847000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:78809400-78815800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:78809400-78816000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:78809400-78818000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:78809400-78818000	Weak transcription	HepG2	liver
41	chr4:78809400-78820200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr4:78809400-78820600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr4:78809400-78820600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr4:78809400-78824400	Weak transcription	Fetal Kidney	kidney
45	chr4:78809400-78829800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:78809400-78831000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:78809400-78831200	Weak transcription	Brain Substantia Nigra	brain
48	chr4:78809400-78831600	Weak transcription	Brain Anterior Caudate	brain
49	chr4:78809400-78834400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr4:78809400-78841000	Weak transcription	Hela-S3	cervix

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