Variant report

Variant	rs13357253
Chromosome Location	chr5:37480540-37480541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10037598	1.00[AMR][1000 genomes]
rs10040554	1.00[AMR][1000 genomes]
rs10041383	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10041658	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs10051627	1.00[AMR][1000 genomes]
rs10055453	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10058009	1.00[AMR][1000 genomes]
rs10058112	0.92[AFR][1000 genomes]
rs10058937	1.00[AMR][1000 genomes]
rs10061784	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10066785	1.00[AMR][1000 genomes]
rs10067668	1.00[AMR][1000 genomes]
rs10069207	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10069590	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10072490	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10074600	0.92[AFR][1000 genomes]
rs10074916	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10078655	1.00[AMR][1000 genomes]
rs10452470	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10472285	1.00[AMR][1000 genomes]
rs10473044	1.00[AMR][1000 genomes]
rs10473045	1.00[AMR][1000 genomes]
rs10473053	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10473057	1.00[AMR][1000 genomes]
rs13436037	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28437282	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28447153	1.00[AMR][1000 genomes]
rs28491140	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28492848	1.00[AMR][1000 genomes]
rs28515785	1.00[AMR][1000 genomes]
rs28764855	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7707421	1.00[AMR][1000 genomes]
rs9292664	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9885097	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	43 gene(s)	inside rSNPs	diseases
4	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
9	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers 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	42 gene(s)	inside rSNPs	diseases
10	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
11	nsv881492	chr5:37239240-37543121	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv880444	chr5:37239240-37556926	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
13	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
14	nsv1021284	chr5:37264275-37630188	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv1029088	chr5:37285576-37604945	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	nsv597844	chr5:37287836-37567851	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	nsv1028058	chr5:37302941-37581735	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv537728	chr5:37302941-37581735	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	nsv1028054	chr5:37331852-37586211	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv537730	chr5:37331852-37586211	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv471012	chr5:37349895-37545998	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv597845	chr5:37369958-37556926	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
25	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
26	nsv1034094	chr5:37406859-37666704	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv537731	chr5:37406859-37666704	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	nsv1015514	chr5:37409579-37522074	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
30	nsv1018722	chr5:37438609-37507131	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
31	nsv880327	chr5:37443079-37567267	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
32	nsv880890	chr5:37443079-37681646	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
33	nsv968168	chr5:37443092-37487412	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	nsv1030223	chr5:37463746-37514800	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
35	nsv1033104	chr5:37463746-37555317	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
36	nsv968302	chr5:37466213-37487412	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37463800-37489600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:37466000-37494400	Weak transcription	Osteobl	bone
3	chr5:37469600-37481200	Weak transcription	Gastric	stomach
4	chr5:37471600-37492400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:37472200-37481600	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:37472800-37483800	Weak transcription	Fetal Heart	heart
7	chr5:37473000-37481000	Weak transcription	Small Intestine	intestine
8	chr5:37476600-37481200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:37476600-37513200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:37477000-37482600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr5:37477000-37504400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:37477400-37483000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:37477600-37481400	Strong transcription	Primary T cells from cord blood	blood
14	chr5:37477800-37481200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr5:37478000-37483200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:37478200-37482800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr5:37478400-37481800	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr5:37478400-37502800	Weak transcription	Psoas Muscle	Psoas
19	chr5:37478600-37482400	Weak transcription	Spleen	Spleen
20	chr5:37478600-37492800	Weak transcription	Stomach Mucosa	stomach
21	chr5:37478600-37494600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:37478600-37502600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr5:37479200-37482800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:37479400-37482800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr5:37479600-37480600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:37479600-37481000	Strong transcription	Fetal Intestine Large	intestine
27	chr5:37479600-37481200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:37479600-37481200	Strong transcription	Fetal Stomach	stomach
29	chr5:37479600-37481400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:37479600-37481600	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:37479600-37482000	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr5:37479600-37483200	Strong transcription	Liver	Liver
33	chr5:37479600-37486000	Weak transcription	HUVEC	blood vessel
34	chr5:37479800-37480600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr5:37479800-37480600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:37479800-37480600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
37	chr5:37479800-37480600	Strong transcription	Fetal Kidney	kidney
38	chr5:37479800-37480600	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr5:37479800-37480600	Strong transcription	HSMM	muscle
40	chr5:37479800-37480600	Strong transcription	HSMMtube	muscle
41	chr5:37479800-37480800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
42	chr5:37479800-37481200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:37479800-37481200	Strong transcription	Fetal Thymus	thymus
44	chr5:37479800-37481400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:37479800-37481400	Strong transcription	Fetal Lung	lung
46	chr5:37479800-37481800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:37479800-37481800	Strong transcription	Brain Substantia Nigra	brain
48	chr5:37479800-37482200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:37479800-37482200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr5:37479800-37482400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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