Variant report

Variant	rs9448614
Chromosome Location	chr6:79747597-79747598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10223389	0.88[AFR][1000 genomes]
rs28623652	0.96[AFR][1000 genomes]
rs9443639	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs9448579	0.80[AFR][1000 genomes]
rs9448585	0.88[AFR][1000 genomes]
rs9448608	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.96[AFR][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	nsv1015352	chr6:79521820-79757024	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv830705	chr6:79659297-79829530	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv518477	chr6:79700159-79850427	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9448614	IRAK1BP1	cis	lymphoblastoid	seeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79687600-79775000	Strong transcription	Dnd41	blood
2	chr6:79704600-79786600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:79706600-79747800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:79707400-79755800	Weak transcription	Pancreas	Pancrea
5	chr6:79707400-79786000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:79707400-79786600	Weak transcription	Esophagus	oesophagus
7	chr6:79708800-79769600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:79710800-79774600	Weak transcription	Psoas Muscle	Psoas
9	chr6:79717200-79765600	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:79724600-79765200	Weak transcription	Stomach Mucosa	stomach
11	chr6:79726000-79751400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:79726000-79765800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:79726600-79751800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:79726600-79766200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:79726800-79750200	Weak transcription	Hela-S3	cervix
16	chr6:79727000-79767800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:79727600-79750200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:79727600-79761800	Weak transcription	Fetal Brain Male	brain
19	chr6:79728000-79753000	Weak transcription	Brain Germinal Matrix	brain
20	chr6:79728600-79750200	Weak transcription	Fetal Stomach	stomach
21	chr6:79730000-79786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:79730600-79776600	Weak transcription	Aorta	Aorta
23	chr6:79732200-79774600	Weak transcription	Gastric	stomach
24	chr6:79732400-79756000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:79733000-79761800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:79733000-79765800	Weak transcription	Lung	lung
27	chr6:79733200-79747800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:79733200-79747800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:79733200-79751000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr6:79733200-79761800	Weak transcription	Thymus	Thymus
31	chr6:79733600-79765200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr6:79733800-79759800	Weak transcription	HMEC	breast
33	chr6:79734000-79768000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:79734800-79758400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr6:79736000-79773600	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:79736200-79762000	Weak transcription	Brain Anterior Caudate	brain
37	chr6:79736400-79749000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr6:79737200-79752600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:79737400-79752200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr6:79737600-79747800	Weak transcription	Ovary	ovary
41	chr6:79737800-79750400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr6:79738200-79750000	Weak transcription	Adipose Nuclei	Adipose
43	chr6:79739000-79780000	Weak transcription	NHLF	lung
44	chr6:79739400-79769400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:79740000-79750000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr6:79741000-79748000	Weak transcription	Fetal Intestine Small	intestine
47	chr6:79741000-79761800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:79741600-79751000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr6:79741800-79749000	Strong transcription	Primary T cells from cord blood	blood
50	chr6:79742000-79752800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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