Variant report

Variant	rs9462987
Chromosome Location	chr6:44359274-44359275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44356556..44360481-chr6:44380097..44385414,6	K562	blood:
2	chr6:44357790..44359510-chr6:44364205..44366302,2	K562	blood:
3	chr6:44356394..44359367-chr6:44380277..44384190,3	K562	blood:
4	chr6:44355391..44357263-chr6:44358949..44363275,4	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1888671	0.82[EUR][1000 genomes]
rs2273666	0.82[EUR][1000 genomes]
rs2297334	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4134405	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4143679	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67565544	0.82[EUR][1000 genomes]
rs6934058	0.95[AMR][1000 genomes]
rs9349284	0.82[EUR][1000 genomes]
rs9357444	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9472275	0.93[AMR][1000 genomes];0.82[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	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
2	esv3358564	chr6:44357874-44360072	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3372298	chr6:44358274-44359622	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 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	chr6:44356400-44359400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:44356400-44361800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:44356400-44364800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:44356400-44393800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:44357200-44359400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
6	chr6:44357200-44360400	Weak transcription	Colonic Mucosa	Colon
7	chr6:44357200-44361400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:44357200-44376200	Weak transcription	Stomach Mucosa	stomach
9	chr6:44357400-44359400	Weak transcription	Esophagus	oesophagus
10	chr6:44357400-44359400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:44357400-44360000	Weak transcription	Primary B cells from cord blood	blood
12	chr6:44357400-44360200	Weak transcription	Brain Substantia Nigra	brain
13	chr6:44357400-44360400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:44357400-44361400	Weak transcription	Psoas Muscle	Psoas
15	chr6:44357400-44364400	Weak transcription	Right Atrium	heart
16	chr6:44357400-44367000	Strong transcription	HSMM	muscle
17	chr6:44357400-44367200	Strong transcription	Fetal Muscle Leg	muscle
18	chr6:44357600-44361400	Weak transcription	Right Ventricle	heart
19	chr6:44357600-44370200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:44357600-44377600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:44357600-44383200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:44357600-44388200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:44357800-44359800	Weak transcription	A549	lung
24	chr6:44357800-44361000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr6:44357800-44367000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr6:44357800-44367200	Strong transcription	Placenta	Placenta
27	chr6:44357800-44378200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr6:44358000-44359800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
29	chr6:44358000-44364600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr6:44358000-44366200	Strong transcription	NH-A	brain
31	chr6:44358000-44366800	Strong transcription	HMEC	breast
32	chr6:44358000-44367400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:44358000-44369200	Strong transcription	Osteobl	bone
34	chr6:44358000-44384800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:44358000-44385600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:44358000-44385600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr6:44358000-44385800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr6:44358000-44386000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:44358200-44359800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:44358200-44360400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:44358200-44361200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:44358200-44364200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:44358200-44364600	Strong transcription	Fetal Intestine Large	intestine
44	chr6:44358200-44369200	Strong transcription	Hela-S3	cervix
45	chr6:44358200-44378000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr6:44358200-44381800	Strong transcription	Fetal Thymus	thymus
47	chr6:44358200-44385600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr6:44358400-44359400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:44358400-44359400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr6:44358400-44359400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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