Variant report

Variant	rs60609972
Chromosome Location	chr5:37472527-37472528
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10070366	1.00[ASN][1000 genomes]
rs16903598	1.00[AMR][1000 genomes]
rs16903600	1.00[AMR][1000 genomes]
rs16903603	1.00[AMR][1000 genomes]
rs16903604	1.00[AMR][1000 genomes]
rs16903613	1.00[AMR][1000 genomes]
rs16903618	1.00[AMR][1000 genomes]
rs34243761	1.00[AMR][1000 genomes]
rs57947315	0.88[AFR][1000 genomes]
rs59150742	1.00[AMR][1000 genomes]
rs59289853	1.00[AMR][1000 genomes]
rs59775401	1.00[AMR][1000 genomes]
rs59938294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59956868	1.00[AMR][1000 genomes]
rs60505985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60854599	1.00[AMR][1000 genomes]
rs60866810	1.00[AMR][1000 genomes]
rs61235304	1.00[AMR][1000 genomes]
rs61421708	1.00[AMR][1000 genomes]
rs6864055	1.00[AMR][1000 genomes]
rs6878467	1.00[AMR][1000 genomes]
rs73061771	0.88[AFR][1000 genomes]
rs73066405	1.00[AMR][1000 genomes]
rs73068410	1.00[AMR][1000 genomes]
rs73068415	1.00[AMR][1000 genomes]
rs73068449	1.00[AMR][1000 genomes]
rs73068474	1.00[AMR][1000 genomes]
rs73070406	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070409	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070411	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070497	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072296	1.00[AMR][1000 genomes]
rs73074108	1.00[AMR][1000 genomes]
rs73074115	1.00[AMR][1000 genomes]
rs7727395	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7727585	1.00[AMR][1000 genomes]
rs7727710	1.00[AMR][1000 genomes]
rs7728924	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	nsv881076	chr5:37294473-37479198	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking 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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37420800-37480200	Weak transcription	Brain Hippocampus Middle	brain
2	chr5:37421600-37478400	Weak transcription	Aorta	Aorta
3	chr5:37425400-37480200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:37426000-37479800	Weak transcription	HSMM	muscle
5	chr5:37435600-37480000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:37445200-37479800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:37445200-37480200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:37445200-37480200	Weak transcription	Ovary	ovary
9	chr5:37445200-37480200	Weak transcription	Thymus	Thymus
10	chr5:37445400-37480200	Weak transcription	Hela-S3	cervix
11	chr5:37445600-37480000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:37451800-37477000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr5:37458000-37480200	Weak transcription	Right Ventricle	heart
14	chr5:37463800-37489600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:37464200-37477600	Weak transcription	HSMMtube	muscle
16	chr5:37466000-37494400	Weak transcription	Osteobl	bone
17	chr5:37469200-37480200	Weak transcription	Placenta	Placenta
18	chr5:37469600-37480200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:37469600-37481200	Weak transcription	Gastric	stomach
20	chr5:37470200-37480200	Weak transcription	Pancreas	Pancrea
21	chr5:37470600-37472800	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr5:37471400-37472800	Weak transcription	Fetal Stomach	stomach
23	chr5:37471400-37477600	Weak transcription	Primary T cells from cord blood	blood
24	chr5:37471400-37479600	Weak transcription	Fetal Intestine Small	intestine
25	chr5:37471400-37479600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:37471400-37479800	Weak transcription	Fetal Thymus	thymus
27	chr5:37471400-37480000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:37471400-37480000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:37471400-37480000	Weak transcription	A549	lung
30	chr5:37471400-37480200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:37471400-37480200	Weak transcription	Left Ventricle	heart
32	chr5:37471600-37480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:37471600-37480200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:37471600-37480200	Weak transcription	Brain Angular Gyrus	brain
35	chr5:37471600-37492400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:37471800-37479200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:37472200-37477000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr5:37472200-37477400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:37472200-37479200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:37472200-37479400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr5:37472200-37479800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr5:37472200-37479800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:37472200-37479800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:37472200-37479800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:37472200-37479800	Weak transcription	Dnd41	blood
46	chr5:37472200-37481600	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:37472400-37477600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr5:37472400-37478000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:37472400-37479600	Weak transcription	Liver	Liver
50	chr5:37472400-37480000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links