Variant report

Variant	rs7721539
Chromosome Location	chr5:9229154-9229155
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	chr5:9227860..9230467-chr5:9231898..9235832,4	K562	blood:
2	chr5:9228043..9230467-chr5:9233469..9235832,3	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10037901	1.00[EUR][1000 genomes]
rs10038331	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10062136	1.00[EUR][1000 genomes]
rs10064043	1.00[EUR][1000 genomes]
rs10475461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956954	1.00[EUR][1000 genomes]
rs13360017	1.00[EUR][1000 genomes]
rs13360301	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1806025	1.00[EUR][1000 genomes]
rs1806026	1.00[EUR][1000 genomes]
rs1806028	1.00[EUR][1000 genomes]
rs1806029	1.00[EUR][1000 genomes]
rs1806030	1.00[EUR][1000 genomes]
rs1806031	1.00[EUR][1000 genomes]
rs1806035	1.00[EUR][1000 genomes]
rs1806037	1.00[EUR][1000 genomes]
rs1806039	1.00[EUR][1000 genomes]
rs1806040	1.00[EUR][1000 genomes]
rs1806041	1.00[EUR][1000 genomes]
rs1806043	1.00[EUR][1000 genomes]
rs1806044	1.00[EUR][1000 genomes]
rs1806045	1.00[EUR][1000 genomes]
rs1806048	1.00[EUR][1000 genomes]
rs1806068	1.00[EUR][1000 genomes]
rs2387815	1.00[EUR][1000 genomes]
rs28405269	1.00[EUR][1000 genomes]
rs28435264	1.00[EUR][1000 genomes]
rs28795500	1.00[EUR][1000 genomes]
rs3026325	1.00[EUR][1000 genomes]
rs3026329	1.00[EUR][1000 genomes]
rs3026330	1.00[EUR][1000 genomes]
rs3026332	1.00[EUR][1000 genomes]
rs3026334	1.00[EUR][1000 genomes]
rs3846581	1.00[EUR][1000 genomes]
rs3892835	1.00[EUR][1000 genomes]
rs56698989	1.00[EUR][1000 genomes]
rs59081292	1.00[EUR][1000 genomes]
rs6874269	1.00[EUR][1000 genomes]
rs6885837	1.00[EUR][1000 genomes]
rs73046643	1.00[EUR][1000 genomes]
rs73046646	1.00[EUR][1000 genomes]
rs7727000	1.00[EUR][1000 genomes]
rs7735941	1.00[EUR][1000 genomes]
rs877189	1.00[EUR][1000 genomes]
rs877190	1.00[EUR][1000 genomes]
rs886506	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1016937	chr5:8824417-9402871	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv537638	chr5:8824417-9402871	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv918004	chr5:8824417-9402871	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1015378	chr5:9053542-9617963	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv537640	chr5:9053542-9617963	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv830200	chr5:9081023-9269495	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv597070	chr5:9100211-9280338	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1020815	chr5:9135207-9425649	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv498044	chr5:9143754-9402870	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv530183	chr5:9146506-9413373	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv597071	chr5:9182376-9760599	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1032672	chr5:9182409-9843893	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1035075	chr5:9182584-9843723	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv537641	chr5:9182584-9843723	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
16	nsv1034637	chr5:9182784-9741743	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv537642	chr5:9182784-9741743	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv1028656	chr5:9196001-9837040	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
19	nsv1016885	chr5:9218932-9575594	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	nsv1026078	chr5:9222811-9591290	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv1022137	chr5:9225121-9745434	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
22	nsv537643	chr5:9225121-9745434	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9145600-9235400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:9185400-9264600	Weak transcription	Left Ventricle	heart
3	chr5:9192800-9239600	Weak transcription	Pancreas	Pancrea
4	chr5:9211000-9233000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:9211800-9244600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:9218600-9239200	Weak transcription	Fetal Lung	lung
7	chr5:9219400-9229600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:9221000-9230800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:9221000-9238200	Weak transcription	Aorta	Aorta
10	chr5:9222000-9234200	Weak transcription	Fetal Kidney	kidney
11	chr5:9222600-9233200	Weak transcription	Fetal Stomach	stomach
12	chr5:9222600-9233800	Weak transcription	NH-A	brain
13	chr5:9222600-9238400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:9222800-9230200	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:9223000-9229200	Weak transcription	Fetal Intestine Small	intestine
16	chr5:9223000-9233000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:9223200-9233400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:9223400-9230400	Weak transcription	Ovary	ovary
19	chr5:9223400-9233800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:9223400-9240200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:9224800-9233600	Weak transcription	Osteobl	bone
22	chr5:9225000-9229400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:9225000-9233000	Weak transcription	NHLF	lung
24	chr5:9225000-9234000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:9225200-9230400	Weak transcription	Fetal Heart	heart
26	chr5:9225200-9232000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:9225200-9233600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:9225200-9258600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:9226400-9230600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:9226400-9233600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:9226400-9233800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:9226400-9233800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:9226400-9254000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr5:9226600-9233200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:9227000-9239400	Weak transcription	Fetal Intestine Large	intestine
36	chr5:9228200-9229200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:9228400-9229200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:9228400-9232600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:9229000-9229600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:9229000-9230200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr5:9229000-9250400	Weak transcription	Fetal Muscle Leg	muscle

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