Variant report

Variant	rs61359564
Chromosome Location	chr5:37616224-37616225
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	chr5:37609718..37612103-chr5:37614733..37616548,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10473070	1.00[AMR][1000 genomes]
rs57191191	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57694936	1.00[AMR][1000 genomes]
rs61515510	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61598974	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73748978	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37540000-37621000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:37572200-37620600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:37588800-37628000	Weak transcription	Ovary	ovary
4	chr5:37600000-37620600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:37600800-37627200	Weak transcription	Fetal Intestine Small	intestine
6	chr5:37601400-37618000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr5:37601600-37620800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:37601600-37628600	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:37601800-37620600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:37602000-37630800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:37602200-37626200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:37602800-37628000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:37603000-37621800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:37603600-37627600	Weak transcription	Liver	Liver
15	chr5:37603600-37628000	Weak transcription	Thymus	Thymus
16	chr5:37604000-37627200	Weak transcription	Lung	lung
17	chr5:37604600-37618000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:37604800-37625400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:37604800-37630400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:37605000-37628800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:37605400-37622600	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:37605400-37628800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr5:37606200-37629000	Weak transcription	Fetal Thymus	thymus
24	chr5:37606400-37637800	Weak transcription	Esophagus	oesophagus
25	chr5:37606600-37619200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:37607200-37628000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:37607800-37620800	Weak transcription	GM12878-XiMat	blood
28	chr5:37608200-37627200	Weak transcription	Left Ventricle	heart
29	chr5:37608400-37620400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:37608400-37621000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr5:37608600-37620800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:37608600-37626600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:37608800-37620600	Weak transcription	Psoas Muscle	Psoas
34	chr5:37609400-37627400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr5:37609800-37620400	Weak transcription	Primary B cells from cord blood	blood
36	chr5:37610000-37627800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:37610200-37619200	Weak transcription	Fetal Stomach	stomach
38	chr5:37610200-37620400	Weak transcription	Primary T cells from cord blood	blood
39	chr5:37610200-37624600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:37611200-37616400	Weak transcription	Fetal Lung	lung
41	chr5:37613800-37637600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:37615800-37626200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:37615800-37628800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:37616000-37619200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr5:37616000-37619400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:37616000-37619400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:37616000-37619400	Weak transcription	Colon Smooth Muscle	Colon
48	chr5:37616200-37619400	Weak transcription	Osteobl	bone
49	chr5:37616200-37619600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:37616200-37619600	Weak transcription	HSMMtube	muscle

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