Variant report

Variant	rs9496548
Chromosome Location	chr6:143586692-143586693
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143554978..143557095-chr6:143585406..143587197,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10080658	1.00[ASN][1000 genomes]
rs13437539	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17072448	1.00[ASN][1000 genomes]
rs2146300	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28537733	1.00[ASN][1000 genomes]
rs28846218	1.00[ASN][1000 genomes]
rs4467794	1.00[ASN][1000 genomes]
rs55790446	1.00[ASN][1000 genomes]
rs56827403	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56884593	1.00[ASN][1000 genomes]
rs57184543	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57498557	1.00[ASN][1000 genomes]
rs59134343	1.00[ASN][1000 genomes]
rs59572336	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59940435	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6570553	1.00[ASN][1000 genomes]
rs6935733	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73594139	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73594165	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771499	0.83[AMR][1000 genomes]
rs9484726	1.00[ASN][1000 genomes]
rs9484727	1.00[ASN][1000 genomes]
rs9484732	1.00[ASN][1000 genomes]
rs9484734	1.00[ASN][1000 genomes]
rs9484738	1.00[ASN][1000 genomes]
rs9496514	1.00[ASN][1000 genomes]
rs9496544	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496547	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496550	1.00[ASN][1000 genomes]
rs9496551	1.00[ASN][1000 genomes]
rs9496562	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9496563	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9496564	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9496580	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9496581	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9496583	1.00[ASN][1000 genomes]
rs9496586	1.00[ASN][1000 genomes]
rs9496590	1.00[ASN][1000 genomes]
rs9496595	1.00[ASN][1000 genomes]
rs9496596	1.00[ASN][1000 genomes]
rs9496599	1.00[ASN][1000 genomes]
rs9496604	1.00[ASN][1000 genomes]
rs9496608	1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9496548	AIG1	cis	multi-tissue	Pritchard

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143545400-143588800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:143569000-143592000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:143569600-143588600	Weak transcription	Aorta	Aorta
4	chr6:143570800-143609200	Weak transcription	Fetal Intestine Large	intestine
5	chr6:143579800-143589400	Weak transcription	Left Ventricle	heart
6	chr6:143582400-143587600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:143582400-143590000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:143582400-143591800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:143582600-143591200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:143582600-143591200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:143583400-143606000	Weak transcription	Fetal Intestine Small	intestine
12	chr6:143583800-143588800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:143583800-143615400	Weak transcription	K562	blood
14	chr6:143584000-143588200	Weak transcription	Liver	Liver
15	chr6:143585400-143587200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:143585400-143587200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:143585400-143587200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:143585600-143586800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:143585600-143586800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:143585600-143587000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:143585600-143587000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:143585600-143587200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:143585600-143587200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:143585600-143587200	Enhancers	Fetal Stomach	stomach
25	chr6:143585600-143587200	Enhancers	Ovary	ovary
26	chr6:143585800-143587000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:143585800-143587000	Enhancers	Fetal Lung	lung
28	chr6:143585800-143592000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:143586200-143587000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr6:143586200-143587000	Enhancers	Colon Smooth Muscle	Colon
31	chr6:143586200-143587200	Enhancers	Fetal Heart	heart
32	chr6:143586200-143587200	Enhancers	NHDF-Ad	bronchial
33	chr6:143586400-143586800	Enhancers	Rectal Smooth Muscle	rectum
34	chr6:143586600-143586800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:143586600-143587000	Enhancers	Stomach Smooth Muscle	stomach

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