Variant report

Variant	rs17139323
Chromosome Location	chr5:115607647-115607648
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	chr5:115607181..115609929-chr5:115613382..115615949,2	K562	blood:
2	chr5:115473639..115474170-chr5:115607611..115608509,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1031363	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1549629	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1567336	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17138918	1.00[CEU][hapmap]
rs17139218	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17139272	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17139308	1.00[CEU][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17139432	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17139507	0.89[EUR][1000 genomes]
rs2063251	1.00[CEU][hapmap]
rs2900096	1.00[CEU][hapmap]
rs4342363	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4392665	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4403214	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58502196	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58594358	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60462627	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61263877	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6861593	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6863773	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6872204	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6887806	0.82[CEU][hapmap]
rs6891466	0.82[CEU][hapmap]
rs6897052	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73255169	0.82[EUR][1000 genomes]
rs7701626	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7701783	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7706895	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7708270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7714974	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7728830	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7729217	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7732371	1.00[CEU][hapmap]
rs7736805	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882743	chr5:115501792-115634127	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1019540	chr5:115526349-115610020	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1032799	chr5:115533065-115609552	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1016924	chr5:115533065-115610020	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv599481	chr5:115540041-115609552	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1024670	chr5:115540586-115615459	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv462401	chr5:115541563-115609552	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv599482	chr5:115541563-115609552	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv521050	chr5:115541563-115617297	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv599483	chr5:115561128-115609552	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv882744	chr5:115561128-115609552	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv882745	chr5:115561128-115616288	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv882747	chr5:115566636-115662510	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv34428	chr5:115575513-115626966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv2753795	chr5:115576026-115626966	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv2755740	chr5:115576139-115633474	ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	esv2757134	chr5:115578810-115633474	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	esv2759372	chr5:115578810-115633474	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	esv2760969	chr5:115583627-115630890	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv882748	chr5:115584159-115669950	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	nsv1018714	chr5:115586834-115625245	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv3692873	chr5:115594144-115617297	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv2422101	chr5:115594144-115625228	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv462402	chr5:115596120-115609552	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv599484	chr5:115596120-115609552	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv517704	chr5:115596120-115617297	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv818377	chr5:115596120-115617297	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
32	esv2753045	chr5:115596277-115616014	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv1029470	chr5:115596277-115621603	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv1017822	chr5:115596277-115625216	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	nsv1019259	chr5:115596277-115625245	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	esv34342	chr5:115596277-115626966	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	esv2756234	chr5:115596277-115626966	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	nsv432800	chr5:115596277-115626966	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	nsv1028323	chr5:115596277-115627008	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	nsv1020633	chr5:115596277-115629523	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
41	nsv1023495	chr5:115596277-115629769	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
42	esv2752575	chr5:115596277-115633474	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
43	nsv442961	chr5:115596334-115625228	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
44	nsv1018649	chr5:115596350-115629523	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
45	nsv514321	chr5:115596461-115621213	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
46	nsv1015300	chr5:115597953-115629523	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
47	nsv1028664	chr5:115601522-115630878	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
48	nsv1029334	chr5:115605092-115625245	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115560400-115610600	Weak transcription	Left Ventricle	heart
2	chr5:115579600-115610600	Weak transcription	Primary B cells from cord blood	blood
3	chr5:115586800-115608000	Weak transcription	Adipose Nuclei	Adipose
4	chr5:115586800-115609800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:115586800-115610800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:115590800-115610200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:115592000-115607800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:115597000-115608200	Weak transcription	NHDF-Ad	bronchial
9	chr5:115599200-115612600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:115600600-115611400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:115601600-115608000	Weak transcription	Fetal Lung	lung
12	chr5:115604600-115613200	Weak transcription	Psoas Muscle	Psoas
13	chr5:115606400-115608000	Weak transcription	Primary T cells from cord blood	blood
14	chr5:115607200-115607800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr5:115607200-115608200	Enhancers	Liver	Liver
16	chr5:115607400-115607800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:115607600-115608200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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