Variant report

Variant	rs56680779
Chromosome Location	chr5:36897393-36897394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36876233..36877782-chr5:36895355..36898025,2	MCF-7	breast:
2	chr5:36894674..36897624-chr5:36903658..36906079,2	K562	blood:
3	chr5:36881285..36883569-chr5:36896456..36898499,2	K562	blood:

Variant related genes	Relation type
ENSG00000164190	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10941319	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11743833	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11744960	0.92[ASN][1000 genomes]
rs11745128	0.92[ASN][1000 genomes]
rs12153359	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12187383	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12188075	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12513653	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12516349	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12520272	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12520324	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12520562	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12521488	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16903365	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16903373	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16903403	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16903413	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16903419	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16903427	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16903429	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16903442	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16903456	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16903466	0.81[ASN][1000 genomes]
rs16903469	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16903477	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2365495	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2365838	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3776588	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3822471	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3849756	0.85[AMR][1000 genomes]
rs56999464	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57686895	0.92[ASN][1000 genomes]
rs60633925	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60643425	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60730034	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61638663	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62654863	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv532133	chr5:36834932-36906436	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv830264	chr5:36887002-36941494	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36880000-36897400	Weak transcription	NHLF	lung
2	chr5:36880400-36897800	Weak transcription	HUVEC	blood vessel
3	chr5:36881000-36899800	Weak transcription	Brain Substantia Nigra	brain
4	chr5:36881000-36900600	Weak transcription	Osteobl	bone
5	chr5:36881200-36900400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:36881400-36897400	Weak transcription	NHDF-Ad	bronchial
7	chr5:36882400-36899800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:36885000-36899200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:36886200-36897600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:36886200-36899000	Weak transcription	Fetal Thymus	thymus
11	chr5:36886400-36897600	Weak transcription	A549	lung
12	chr5:36886400-36898200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:36886400-36900400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:36886400-36904800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:36886600-36898600	Weak transcription	Esophagus	oesophagus
16	chr5:36886600-36898600	Weak transcription	Fetal Intestine Small	intestine
17	chr5:36886600-36899800	Weak transcription	Brain Angular Gyrus	brain
18	chr5:36886600-36904800	Weak transcription	Right Ventricle	heart
19	chr5:36886600-36909200	Weak transcription	Left Ventricle	heart
20	chr5:36886600-36910400	Weak transcription	Ovary	ovary
21	chr5:36888200-36897800	Weak transcription	Hela-S3	cervix
22	chr5:36888200-36902400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:36888200-36910400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:36888400-36897400	Weak transcription	Fetal Heart	heart
25	chr5:36888400-36897800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:36888600-36899800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:36888800-36899200	Weak transcription	Adipose Nuclei	Adipose
28	chr5:36888800-36911000	Weak transcription	Fetal Lung	lung
29	chr5:36889600-36897800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:36889600-36901200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr5:36892200-36897400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:36892200-36897600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:36892200-36901600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:36892400-36897400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:36893600-36897800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:36894600-36900000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr5:36895000-36898400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr5:36895400-36897600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:36895400-36897600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:36895400-36899200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr5:36895400-36900800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:36895800-36897400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr5:36895800-36897400	Weak transcription	Stomach Mucosa	stomach
44	chr5:36895800-36897600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:36895800-36897600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr5:36895800-36899600	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:36895800-36902200	Weak transcription	Primary B cells from cord blood	blood
48	chr5:36895800-36918800	Weak transcription	Small Intestine	intestine
49	chr5:36895800-36928600	Weak transcription	HSMM	muscle
50	chr5:36896000-36898600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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