Variant report

Variant	rs56333543
Chromosome Location	chr7:129565775-129565776
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129563668..129568192-chr7:129591513..129594464,5	K562	blood:
2	chr7:129554834..129557816-chr7:129564035..129566068,2	MCF-7	breast:
3	chr7:129564245..129566950-chr7:129648426..129651272,2	MCF-7	breast:
4	chr7:129559119..129562737-chr7:129563005..129568178,5	K562	blood:

Variant related genes	Relation type
ENSG00000186591	Chromatin interaction
ENSG00000244036	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs12530557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532959	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533033	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12533528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533953	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12534043	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12534061	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12534320	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12535347	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535722	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12535728	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12535857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12536978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537576	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537604	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537660	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538787	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12539145	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12539653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539800	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12540479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540517	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12540541	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12690	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1464970	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464971	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464972	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1471877	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17559301	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1965567	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1965568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2631601	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2727457	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34930431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35189138	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55675451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55732825	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55735840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55748031	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55767113	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55769831	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55772531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55798026	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55809128	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56022754	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56025626	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56034137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56080853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56085705	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56094908	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56117230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56153730	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56167610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56176516	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56191413	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56321762	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56332361	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56376893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56381627	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56408895	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs718925	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs718926	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129516200-129584400	Weak transcription	Fetal Brain Male	brain
2	chr7:129530000-129587600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:129547400-129576800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:129549200-129586800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:129549400-129580200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:129549800-129572800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:129549800-129577800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:129549800-129588200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:129553200-129570000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:129554000-129573800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:129555200-129587000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:129556600-129572800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:129556600-129579000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:129556600-129588000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:129557400-129566800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:129557400-129587000	Weak transcription	Fetal Lung	lung
17	chr7:129557800-129572800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:129558000-129569200	Weak transcription	Fetal Brain Female	brain
19	chr7:129558000-129570000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:129558000-129573400	Weak transcription	HSMMtube	muscle
21	chr7:129558000-129580200	Weak transcription	Aorta	Aorta
22	chr7:129558000-129584600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:129558000-129587600	Weak transcription	Brain Germinal Matrix	brain
24	chr7:129558200-129572800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:129559600-129576400	Weak transcription	Thymus	Thymus
26	chr7:129559600-129578800	Weak transcription	Pancreas	Pancrea
27	chr7:129559600-129580200	Weak transcription	Gastric	stomach
28	chr7:129559600-129580200	Weak transcription	Ovary	ovary
29	chr7:129559600-129581200	Weak transcription	Lung	lung
30	chr7:129559600-129588000	Weak transcription	Esophagus	oesophagus
31	chr7:129559800-129588600	Weak transcription	Colonic Mucosa	Colon
32	chr7:129561200-129568000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:129561400-129568800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr7:129563000-129566000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:129563000-129566000	Genic enhancers	Osteobl	bone
36	chr7:129563200-129565800	Enhancers	NH-A	brain
37	chr7:129563200-129566000	Enhancers	NHDF-Ad	bronchial
38	chr7:129563400-129565800	Enhancers	Primary B cells from peripheral blood	blood
39	chr7:129563400-129565800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:129563400-129565800	Enhancers	HUVEC	blood vessel
41	chr7:129563400-129566200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:129563600-129565800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:129563600-129566000	Enhancers	Fetal Heart	heart
44	chr7:129563600-129566600	Weak transcription	Fetal Intestine Large	intestine
45	chr7:129563600-129568000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:129563600-129572800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:129563800-129566400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr7:129564000-129565800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr7:129564000-129566000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr7:129564000-129573200	Weak transcription	Hela-S3	cervix

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