Variant report

Variant	rs9321943
Chromosome Location	chr6:144090658-144090659
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144083699..144085965-chr6:144088536..144091208,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10080348	1.00[AMR][1000 genomes]
rs9321942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484811	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496710	1.00[AMR][1000 genomes]
rs9496752	0.85[YRI][hapmap]
rs9496753	0.85[YRI][hapmap]

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	nsv5513	chr6:144068006-144102028	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9321943	SF3B5	cis	lymphoblastoid	seeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144067800-144095400	Weak transcription	NHLF	lung
2	chr6:144067800-144122000	Weak transcription	Colonic Mucosa	Colon
3	chr6:144069400-144097800	Weak transcription	Gastric	stomach
4	chr6:144069600-144093200	Weak transcription	Stomach Mucosa	stomach
5	chr6:144070200-144122000	Weak transcription	Small Intestine	intestine
6	chr6:144070800-144106200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:144072600-144095000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:144072600-144106400	Weak transcription	HMEC	breast
9	chr6:144074200-144113200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:144077200-144093600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:144077200-144095400	Weak transcription	Primary B cells from cord blood	blood
12	chr6:144077400-144095000	Weak transcription	NHEK	skin
13	chr6:144077800-144122000	Weak transcription	Fetal Brain Male	brain
14	chr6:144079000-144092800	Weak transcription	Fetal Kidney	kidney
15	chr6:144079000-144099600	Weak transcription	K562	blood
16	chr6:144079200-144093000	Weak transcription	HSMM	muscle
17	chr6:144079200-144095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:144080600-144095000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:144080600-144101200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:144080600-144122000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:144081200-144096400	Weak transcription	Brain Angular Gyrus	brain
22	chr6:144081800-144095200	Weak transcription	Psoas Muscle	Psoas
23	chr6:144081800-144097600	Weak transcription	Esophagus	oesophagus
24	chr6:144083600-144128600	Weak transcription	Hela-S3	cervix
25	chr6:144083800-144098600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:144084600-144091600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:144084800-144090800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr6:144084800-144091400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:144084800-144092000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:144085000-144113800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr6:144085200-144113800	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:144085600-144091400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:144085600-144091800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr6:144086000-144090800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr6:144086200-144099000	Weak transcription	Thymus	Thymus
36	chr6:144086200-144105400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:144086400-144090800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:144086400-144091600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr6:144086400-144091800	Strong transcription	Fetal Intestine Large	intestine
40	chr6:144086600-144091600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:144086600-144106400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:144086800-144091400	Strong transcription	Placenta	Placenta
43	chr6:144087000-144093000	Weak transcription	HUVEC	blood vessel
44	chr6:144087000-144094600	Weak transcription	HepG2	liver
45	chr6:144087000-144095000	Weak transcription	Aorta	Aorta
46	chr6:144087000-144106600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:144087000-144122000	Weak transcription	Pancreas	Pancrea
48	chr6:144087200-144093400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr6:144087200-144093800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:144087200-144095000	Weak transcription	Placenta Amnion	Placenta Amnion

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