Variant report

Variant	rs56212415
Chromosome Location	chr4:119737731-119737732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119733532..119736191-chr4:119736876..119739551,2	K562	blood:
2	chr4:119733774..119738029-chr4:119752570..119758602,5	K562	blood:

Variant related genes	Relation type
ENSG00000150961	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10001115	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10018977	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10019311	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10025640	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11098451	0.93[EUR][1000 genomes]
rs17257945	0.88[EUR][1000 genomes]
rs17258106	0.88[EUR][1000 genomes]
rs17258830	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17258907	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17259173	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17259257	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17259284	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324807	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324821	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324884	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324968	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325017	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325129	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325192	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28595532	0.93[EUR][1000 genomes]
rs28600971	0.93[EUR][1000 genomes]
rs28627331	0.88[EUR][1000 genomes]
rs28797314	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28837152	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41455648	0.93[EUR][1000 genomes]
rs55633605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55640619	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55649377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55668908	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55671478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55704595	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55726697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55744948	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55758547	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55794497	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55806110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55823625	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55869953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55901549	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55913633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55985953	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56027489	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56042726	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56046449	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56046676	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56055826	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56104443	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56117870	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56124677	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56150431	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56162974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56227053	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56252481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56264833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56283736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56291421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56302493	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56302600	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56303276	1.00[EUR][1000 genomes]
rs56309519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56322132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56331118	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56342843	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56359736	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56364904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56388366	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56389935	0.88[EUR][1000 genomes]
rs56762141	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6818519	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73842253	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv516777	chr4:119733366-119762951	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119703800-119738200	Strong transcription	Placenta	Placenta
2	chr4:119704200-119740000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:119705200-119748200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:119712400-119739000	Strong transcription	Fetal Muscle Leg	muscle
5	chr4:119713800-119739600	Strong transcription	Fetal Muscle Trunk	muscle
6	chr4:119714000-119738200	Strong transcription	Duodenum Mucosa	Duodenum
7	chr4:119714000-119739000	Strong transcription	HSMM	muscle
8	chr4:119714000-119739200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:119714400-119740200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:119714600-119737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:119716200-119738000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr4:119716800-119738600	Strong transcription	GM12878-XiMat	blood
13	chr4:119718200-119739600	Weak transcription	Brain Germinal Matrix	brain
14	chr4:119718400-119756000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:119718600-119744200	Weak transcription	Hela-S3	cervix
16	chr4:119718600-119753600	Weak transcription	Fetal Heart	heart
17	chr4:119719000-119756200	Weak transcription	Fetal Brain Male	brain
18	chr4:119720600-119738200	Strong transcription	NH-A	brain
19	chr4:119722800-119738600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:119723000-119738000	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr4:119723200-119738600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:119723600-119738800	Strong transcription	Dnd41	blood
23	chr4:119724000-119748200	Weak transcription	Psoas Muscle	Psoas
24	chr4:119724600-119738200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:119725400-119738600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:119725400-119738600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:119725400-119739000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:119725600-119738600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:119725600-119738800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:119726200-119740000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:119727000-119737800	Strong transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:119727000-119744000	Weak transcription	Stomach Mucosa	stomach
33	chr4:119730400-119738200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:119730800-119737800	Strong transcription	Primary T cells from cord blood	blood
35	chr4:119730800-119737800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr4:119730800-119739000	Strong transcription	HepG2	liver
37	chr4:119731000-119738800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:119732000-119748000	Weak transcription	Right Atrium	heart
39	chr4:119732000-119755800	Weak transcription	Brain Angular Gyrus	brain
40	chr4:119733200-119738000	Strong transcription	Rectal Smooth Muscle	rectum
41	chr4:119733400-119738600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr4:119733400-119738800	Strong transcription	HSMMtube	muscle
43	chr4:119733400-119740000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr4:119733400-119740400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:119733400-119753200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr4:119734200-119737800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr4:119734400-119748200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:119734800-119755800	Weak transcription	Thymus	Thymus
49	chr4:119735000-119738600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr4:119735200-119738600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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