Variant report

Variant	rs6883388
Chromosome Location	chr5:37550196-37550197
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	chr5:37539872..37542556-chr5:37548847..37552617,3	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10062316	0.81[ASN][1000 genomes]
rs1013398	0.86[ASN][1000 genomes]
rs10473055	0.82[ASN][1000 genomes]
rs10941343	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10941344	0.86[ASN][1000 genomes]
rs10941345	0.86[ASN][1000 genomes]
rs10941347	0.86[ASN][1000 genomes]
rs10941348	0.86[ASN][1000 genomes]
rs10941349	0.82[ASN][1000 genomes]
rs10941350	0.82[ASN][1000 genomes]
rs10941351	0.82[ASN][1000 genomes]
rs1126290	0.86[ASN][1000 genomes]
rs11741504	0.86[ASN][1000 genomes]
rs11748123	0.86[ASN][1000 genomes]
rs11750256	0.86[ASN][1000 genomes]
rs11949124	0.86[ASN][1000 genomes]
rs11954727	0.86[ASN][1000 genomes]
rs11957813	0.86[ASN][1000 genomes]
rs12152831	0.87[ASN][1000 genomes]
rs12652433	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12652658	0.86[ASN][1000 genomes]
rs12653047	0.87[ASN][1000 genomes]
rs12654893	0.86[ASN][1000 genomes]
rs12655908	0.85[ASN][1000 genomes]
rs12658877	0.81[ASN][1000 genomes]
rs1400851	0.82[ASN][1000 genomes]
rs1400853	0.82[ASN][1000 genomes]
rs1517785	0.82[ASN][1000 genomes]
rs1533521	0.84[ASN][1000 genomes]
rs1554278	0.86[ASN][1000 genomes]
rs1812818	0.86[ASN][1000 genomes]
rs1812819	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1874178	0.91[AFR][1000 genomes]
rs2088077	0.88[ASN][1000 genomes]
rs2101786	0.87[ASN][1000 genomes]
rs2366419	0.92[AFR][1000 genomes]
rs4357062	0.82[ASN][1000 genomes]
rs4869438	0.86[ASN][1000 genomes]
rs4869439	0.86[ASN][1000 genomes]
rs4869440	0.82[ASN][1000 genomes]
rs4869527	0.85[ASN][1000 genomes]
rs4869530	0.84[ASN][1000 genomes]
rs4869532	0.82[ASN][1000 genomes]
rs4869533	0.82[ASN][1000 genomes]
rs55794983	0.88[ASN][1000 genomes]
rs55960353	0.82[ASN][1000 genomes]
rs55971490	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56044522	0.87[ASN][1000 genomes]
rs56145766	0.88[ASN][1000 genomes]
rs57015453	0.85[ASN][1000 genomes]
rs59696230	0.86[ASN][1000 genomes]
rs62359033	0.88[ASN][1000 genomes]
rs62359036	0.87[ASN][1000 genomes]
rs62359042	0.87[ASN][1000 genomes]
rs62359058	0.86[ASN][1000 genomes]
rs6451326	0.85[ASN][1000 genomes]
rs6865231	0.82[ASN][1000 genomes]
rs6872681	0.85[ASN][1000 genomes]
rs6874891	0.82[ASN][1000 genomes]
rs6876171	0.82[ASN][1000 genomes]
rs6879890	0.82[ASN][1000 genomes]
rs6881383	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6889616	0.86[ASN][1000 genomes]
rs7704853	0.82[ASN][1000 genomes]
rs7705015	0.82[ASN][1000 genomes]
rs7705089	0.82[ASN][1000 genomes]
rs7716464	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718557	0.86[ASN][1000 genomes]
rs9292656	0.82[ASN][1000 genomes]
rs9292662	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 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	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
32	nsv1028838	chr5:37538075-37583196	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	nsv881497	chr5:37539060-37604856	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37519800-37553600	Weak transcription	Left Ventricle	heart
2	chr5:37523800-37553400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr5:37534400-37551400	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:37534400-37552200	Weak transcription	Fetal Stomach	stomach
5	chr5:37534400-37552600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:37534400-37554600	Weak transcription	Aorta	Aorta
7	chr5:37534400-37554800	Weak transcription	Lung	lung
8	chr5:37534400-37561600	Weak transcription	HSMMtube	muscle
9	chr5:37534400-37567800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:37534400-37573000	Weak transcription	Primary T cells from cord blood	blood
11	chr5:37534800-37554600	Weak transcription	Fetal Intestine Small	intestine
12	chr5:37539600-37552200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:37540000-37621000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:37541800-37552200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:37543200-37554000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:37549800-37552200	Enhancers	K562	blood
17	chr5:37550000-37550200	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr5:37550000-37550800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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