Variant report

Variant	rs4134405
Chromosome Location	chr6:44381527-44381528
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	chr6:44356556..44360481-chr6:44380097..44385414,6	K562	blood:
2	chr6:44356394..44359367-chr6:44380277..44384190,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1888671	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2273666	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2297334	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4143679	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67565544	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6934058	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9349284	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9349286	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9357444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9369481	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9381325	0.90[AMR][1000 genomes]
rs9462987	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9472275	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019145	chr6:44313576-44421440	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44356400-44393800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:44357600-44383200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:44357600-44388200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:44358000-44384800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:44358000-44385600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:44358000-44385600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:44358000-44385800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr6:44358000-44386000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:44358200-44381800	Strong transcription	Fetal Thymus	thymus
10	chr6:44358200-44385600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr6:44358400-44385200	Strong transcription	Dnd41	blood
12	chr6:44358400-44386000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:44358400-44403800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:44358600-44381800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:44358800-44385600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:44359200-44382000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:44359400-44386000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr6:44366000-44383200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr6:44367800-44382000	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr6:44368000-44385000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:44368200-44382000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:44368400-44381600	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr6:44368400-44383000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:44368400-44386000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:44369400-44385600	Strong transcription	Liver	Liver
26	chr6:44370600-44382600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr6:44370800-44381800	Strong transcription	Primary hematopoietic stem cells	blood
28	chr6:44371200-44382600	Strong transcription	Primary T cells from cord blood	blood
29	chr6:44371400-44381600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:44371400-44381600	Strong transcription	NH-A	brain
31	chr6:44371400-44382200	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:44371400-44382200	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:44371400-44382800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr6:44371400-44385600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:44371400-44385600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr6:44371400-44385600	Strong transcription	Fetal Muscle Leg	muscle
37	chr6:44371600-44382000	Strong transcription	Primary B cells from cord blood	blood
38	chr6:44371600-44382200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:44371600-44385600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr6:44371600-44385600	Strong transcription	Fetal Lung	lung
41	chr6:44371600-44385800	Strong transcription	Fetal Intestine Large	intestine
42	chr6:44371600-44386000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:44371800-44382000	Strong transcription	Thymus	Thymus
44	chr6:44371800-44385600	Strong transcription	Fetal Brain Female	brain
45	chr6:44372200-44381800	Strong transcription	Hela-S3	cervix
46	chr6:44373200-44383800	Strong transcription	HepG2	liver
47	chr6:44373200-44385600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:44374600-44388400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr6:44376800-44383600	Weak transcription	Small Intestine	intestine
50	chr6:44376800-44383800	Weak transcription	NHLF	lung

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