Variant report

Variant	rs60556806
Chromosome Location	chr5:37665528-37665529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:37659630..37663695-chr5:37665450..37669812,5	K562	blood:
2	chr5:37664491..37667181-chr5:37703176..37705396,2	MCF-7	breast:
3	chr5:37661443..37663164-chr5:37664838..37666948,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2366671	0.85[ASN][1000 genomes]
rs2910725	0.88[ASN][1000 genomes]
rs2972939	0.83[ASN][1000 genomes]
rs4869534	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6867232	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37648000-37666000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:37654600-37671800	Weak transcription	Primary T cells from cord blood	blood
3	chr5:37656600-37671600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:37658600-37666000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:37658800-37665600	Weak transcription	Left Ventricle	heart
6	chr5:37658800-37667400	Weak transcription	Hela-S3	cervix
7	chr5:37659000-37668000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:37659000-37668000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:37659000-37668600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:37661600-37665600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:37662600-37668200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:37662800-37667200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:37662800-37671800	Weak transcription	Small Intestine	intestine
14	chr5:37663000-37667600	Weak transcription	HepG2	liver
15	chr5:37663400-37666400	Weak transcription	A549	lung
16	chr5:37664000-37665600	Weak transcription	NHDF-Ad	bronchial
17	chr5:37664000-37665800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:37664000-37666000	Weak transcription	Fetal Intestine Large	intestine
19	chr5:37664000-37666000	Weak transcription	Lung	lung
20	chr5:37664000-37667800	Weak transcription	Fetal Intestine Small	intestine
21	chr5:37664000-37668600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:37664000-37668600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:37664000-37671800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:37664200-37665800	Weak transcription	Adipose Nuclei	Adipose
25	chr5:37664400-37667400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:37664400-37667400	Weak transcription	Osteobl	bone
27	chr5:37664400-37668000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:37664400-37668400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:37664600-37668200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:37664800-37667600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:37665000-37666800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr5:37665000-37668600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:37665200-37665800	Enhancers	Colon Smooth Muscle	Colon
34	chr5:37665200-37666400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:37665200-37666600	Enhancers	Fetal Heart	heart
36	chr5:37665200-37668600	Enhancers	Rectal Smooth Muscle	rectum
37	chr5:37665400-37665800	Strong transcription	Primary B cells from cord blood	blood
38	chr5:37665400-37665800	Enhancers	Brain Substantia Nigra	brain
39	chr5:37665400-37665800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr5:37665400-37665800	Enhancers	Stomach Smooth Muscle	stomach
41	chr5:37665400-37666000	Enhancers	Brain Angular Gyrus	brain
42	chr5:37665400-37666000	Enhancers	Brain Cingulate Gyrus	brain
43	chr5:37665400-37666000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:37665400-37666200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:37665400-37666200	Enhancers	Fetal Thymus	thymus
46	chr5:37665400-37666200	Enhancers	Right Ventricle	heart
47	chr5:37665400-37666200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr5:37665400-37666200	Enhancers	NH-A	brain
49	chr5:37665400-37666400	Enhancers	Brain Hippocampus Middle	brain
50	chr5:37665400-37666400	Enhancers	Placenta	Placenta

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